Institute of Human… Research Publications


Most Recent Publications

Genetics of High-Altitude Pulmonary Edema.
C. A. Eichstaedt, N. Benjamin, D. Cao, E. Palevičiūtė, E. Grünig.
Heart Fail Clin. 2022 Nov 29;19(1):89-96. doi: 10.1016/j.hfc.2022.07.002. pmid: 36435576.

The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression.
D. L. Floris, H. Peng, V. Warrier, M. V. Lombardo, C. M. Pretzsch, C. Moreau, A. Tsompanidis, W. Gong, M. Mennes, A. Llera, et al.
Am J Psychiatry. 2022 Nov 23;:appiajp20220194. doi: 10.1176/appi.ajp.20220194. pmid: 36415971.

COGNITION: a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapy.
C. Pixberg, M. Zapatka, M. Hlevnjak, S. Benedetto, J. P. Suppelna, J. Heil, K. Smetanay, L. Michel, C. Fremd, V. Körber, et al.
ESMO Open. 2022 Nov 21;7(6):100637. doi: 10.1016/j.esmoop.2022.100637. pmid: 36423362.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
E. E. Palmer, M. Pusch, A. Picollo, C. Forwood, M. H. Nguyen, V. Suckow, J. Gibbons, A. Hoff, L. Sigfrid, A. Megarbane, et al.
Mol Psychiatry. 2022 Nov 16. doi: 10.1038/s41380-022-01852-9. pmid: 36385166.

Further Publications

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
C. M. Kolvenbach, T. Felger, L. Schierbaum, I. Thiffault, T. Pastinen, M. Szczepańska, M. Zaniew, P. Adamczyk, A. Bayat, Ö. Yilmaz, et al.
J Med Genet. 2022 Nov 15. doi: 10.1136/jmg-2022-108738. pmid: 36379543.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
L. D. Morison, E. Meffert, M. Stampfer, I. Steiner-Wilke, B. Vollmer, K. Schulze, T. Briggs, R. Braden, A. Vogel, D. Thompson-Lake, et al.
J Med Genet. 2022 Nov 3. doi: 10.1136/jmg-2022-108734. pmid: 36328423.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
F. B. Basmanav, N. Cesarato, S. Kumar, O. Borisov, P. Kokordelis, D. J. Ralser, M. Wehner, D. Axt, X. Xiong, H. Thiele, et al.
JAMA Dermatol. 2022 Nov 1;158(11):1245. doi: 10.1001/jamadermatol.2022.2319.

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
A. Jahn, A. Rump, T. Widmann, C. Heining, P. Horak, B. Hutter, N. Paramasivam, S. Uhrig, L. Gieldon, S. Drukewitz, et al.
Annals of Oncology. 2022 November;33(11):1186-1199. doi: 10.1016/j.annonc.2022.07.008.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
G. F. Vogel, Y. Mozer-Glassberg, Y. E. Landau, L. D. Schlieben, H. Prokisch, R. G. Feichtinger, J. A. Mayr, H. Brennenstuhl, J. Schröter, A. Pechlaner, et al.
Genet Med. 2022 Oct 28. doi: 10.1016/j.gim.2022.09.015. pmid: 36305855.

Genetic counselling and testing in pulmonary arterial hypertension -A consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
C. A. Eichstaedt, C. Belge, W. K. Chung, S. Gräf, E. Grünig, D. Montani, R. Quarck, J. A. Tenorio-Castano, F. Soubrier, R. C. Trembath, et al.
Eur Respir J. 2022 Oct 27. doi: 10.1183/13993003.01471-2022. pmid: 36302552.

Keratinocyte-induced costimulation of human T cells through CD6 - but not CD2 - activates mTOR and prevents oxidative stress.
C. Orlik, K. M. Berschneider, B. Jahraus, B. Niesler, E. Balta, K. Schäkel, J. Schröder-Braunstein, M. M. Souto-Carneiro, Y. Samstag.
Front Immunol. 2022 Oct 24;13:1016112. doi: 10.3389/fimmu.2022.1016112. pmid: 36353616.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
C. Hakkaart, J. F. Pearson, L. Marquart, J. Dennis, G. A. R. Wiggins, D. R. Barnes, B. A. Robinson, P. D. Mace, K. Aittomäki, I. L. Andrulis, et al.
Commun Biol. 2022 Oct 6;5(1). doi: 10.1038/s42003-022-03978-6.

Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions.
A. Baudon, E. Clauss Creusot, F. Althammer, C. P. Schaaf, A. Charlet.
Progress in Neurobiology. October 2022

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
B. Yuan, K. V. Schulze, N. Assia Batzir, J. Sinson, H. Dai, W. Zhu, F. Bocanegra, C. Fong, J. Holder, J. Nguyen, et al.
Genome Med. 2022 Sep 30;14(1). doi: 10.1186/s13073-022-01113-y.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
J. H. Döring, A. Saffari, T. Bast, K. Brockmann, L. Ehrhardt, W. Fazeli, W. G. Janzarik, A. Klabunde-Cherwon, G. Kluger, H. Muhle, et al.
Neurol Genet. 2022 Sep 28;8(5):e200020. doi: 10.1212/NXG.0000000000200020.

The serotonin receptor 3E variant is a risk factor for female IBS-D.
N. Fritz, S. Berens, Y. Dong, C. Martínez, S. Schmitteckert, L. A. Houghton, M. Goebel-Stengel, V. Wahl, M. Kabisch, D. Götze, et al.
J Mol Med. 2022 Sep 19;100(11):1617-1627. doi: 10.1007/s00109-022-02244-w.

Transcription factor Creb3l1 maintains proteostasis in neuroendocrine cells.
M. Greenwood, B. T. Gillard, R. Farrukh, A. Paterson, F. Althammer, V. Grinevich, D. Murphy, M. P. Greenwood.
Molecular Metabolism. September 2022

Incorporating progesterone receptor expression into the PREDICT breast prognostic model.
I. Grootes, R. Keeman, F. M. Blows, R. L. Milne, G. G. Giles, A. J. Swerdlow, P. A. Fasching, M. Abubakar, I. L. Andrulis, H. Anton-Culver, et al.
European Journal of Cancer. 2022 September;173:178-193. doi: 10.1016/j.ejca.2022.06.011.

Incorporating progesterone receptor expression into the PREDICT breast prognostic model.
I. Grootes, R. Keeman, F. M. Blows, R. L. Milne, G. G. Giles, A. J. Swerdlow, P. A. Fasching, M. Abubakar, I. L. Andrulis, H. Anton-Culver, et al.
European Journal of Cancer. 2022 September;173:178-193. doi: 10.1016/j.ejca.2022.06.011.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
K. Dias, C. M. Carlston, L. E. Blok, L. De Hayr, U. Nawaz, C. Evans, P. Bayrak-Toydemir, S. Htun, Y. Zhu, A. Ma, et al.
Genetics in Medicine. 2022 September;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001.

Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
F. Forzano, O. Antonova, A. Clarke, G. de Wert, S. Hentze, Y. Jamshidi, Y. Moreau, M. Perola, I. Prokopenko, A. Read, et al.
Eur J Hum Genet. 2022 Aug 19;30(11):1306-1306. doi: 10.1038/s41431-022-01155-1.

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies.
F. Althammer, F. Muscatelli, V. Grinevich, C. P. Schaaf.
Transl Psychiatry. 2022 Aug 8;12(1). doi: 10.1038/s41398-022-02054-1.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
S. Ramdas, J. Judd, S. E. Graham, S. Kanoni, Y. Wang, I. Surakka, B. Wenz, S. L. Clarke, A. Chesi, A. Wells, et al.
The American Journal of Human Genetics. 2022 August;109(8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012.

A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.
R. Zhong, T. Schimanski, F. Zhang, H. Lan, A. Hohn, Q. Xu, M. Huang, Z. Liao, L. Qiao, Z. Yang, et al.
IJMS. 2022 Jul 27;23(15):8313. doi: 10.3390/ijms23158313.

Prognostic meaning of right ventricular function and output reserve in patients with systemic sclerosis.
P. Xanthouli, J. Miazgowski, N. Benjamin, O. Gordjani, B. Egenlauf, S. Harutyunova, R. Seeger, A. M. Marra, N. Blank, H. Lorenz, et al.
Arthritis Res Ther. 21 July 2022

The effect of exercise training and physiotherapy on left and right heart function in heart failure with preserved ejection fraction: a systematic literature review.
E. Palevičiūtė, T. Šimbelytė, C. A. Eichstaedt, N. Benjamin, B. Egenlauf, E. Grünig, J. Čelutkienė.
Heart Fail Rev. 13 July 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
M. Dumont, N. Weber-Lassalle, C. Joly-Beauparlant, C. Ernst, A. Droit, B. Feng, S. Dubois, A. Collin-Deschesnes, P. Soucy, M. Vallée, et al.
Cancers. 11 July 2022

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
F. Marbach, B. S. Lipska‐Ziętkiewicz, A. Knurowska, V. Michaud, H. Margot, J. Lespinasse, F. Tran Mau Them, C. Coubes, J. Park, S. Grosch, et al.
American J of Med Genetics Pt A. 5 July 2022

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
M. Rolfes, J. Borde, K. Möllenhoff, M. Kayali, C. Ernst, A. Gehrig, C. Sutter, J. Ramser, D. Niederacher, J. Horváth, et al.
Cancers. 5 July 2022

Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis.
L. Schweizer, W. Hartmann, A. Koch, M. Nunninger, U. Thomale, V. Pennacchietti, A. Tietze, D. Horn, K. W. Pajtler, S. Hirsch, et al.
Neuropathology Appl Neurobio. 5 July 2022

Associations of Mucosal Nerve Fiber Innervation Density with Hirschsprung-Associated Enterocolitis - A retrospective three center cohort study.
M. Moesch, J. Usemann, E. Bruder, P. Romero, C. Schwab, B. Niesler, M. A. Tapia-Laliena, R. Khasanov, T. Nisar, S. G. NIG Retro, et al.
Eur J Pediatr Surg. 1 July 2022

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Grou.
L. Guerrini-Rousseau, J. Masliah-Planchon, S. M. Waszak, P. Alhopuro, P. R. Benusiglio, F. Bourdeaut, I. B. Brecht, G. Del Baldo, S. K. Dhanda, M. L. Garrè, et al.
J Med Genet. 29 June 2022

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
J. Borde, Y. Laitman, B. Blümcke, D. Niederacher, K. Weber-Lassalle, C. Sutter, A. Rump, N. Arnold, S. Wang-Gohrke, J. Horváth, et al.
BMC Cancer. 27 June 2022

Homoarginine treatment of rats improves cardiac function and remodeling in response to pressure overload.
V. Koch, L. D. Gruenewald, T. Gruber‐Rouh, S. Martin, K. Eichler, C. Booz, I. Yel, T. J. Vogl, K. Buchner, M. Hagenmueller, et al.
Fundamemntal Clinical Pharma. 22 June 2022

Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD).
E. Rempel, K. Kluck, S. Beck, I. Ourailidis, D. Kazdal, O. Neumann, A. L. Volckmar, M. Kirchner, H. Goldschmid, N. Pfarr, et al.
npj Precis. Onc.. 9 June 2022

Epigenetic reactivation of transcriptional programs orchestrating fetal lung development in human pulmonary hypertension.
P. Chelladurai, C. Kuenne, A. Bourgeois, S. Günther, C. Valasarajan, A. V. Cherian, R. J. Rottier, C. Romanet, A. Weigert, O. Boucherat, et al.
Sci. Transl. Med. 2022 Jun 8;14(648). doi: 10.1126/scitranslmed.abe5407.

Multiple Arterial Dissections and Connective Tissue Abnormalities.
P. Erhart, D. Körfer, S. Dihlmann, J. Qiao, I. Hausser, P. Ringleb, J. Männer, N. Dikow, C. P. Schaaf, C. Grond-Ginsbach, et al.
JCM. 7 June 2022

Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study.
S. Berens, Y. Dong, N. Fritz, J. Walstab, M. D'Amato, T. Zheng, V. Wahl, F. Boekstegers, J. L. Bermejo, C. Martinez, et al.
WJG. 7 June 2022

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
J. D. Calhoun, M. C. Aziz, H. C. Happ, J. Gunti, C. Gleason, N. Mohamed, K. Zeng, M. Hiller, E. Bryant, D. S. Mithal, et al.
Brain. 1 June 2022

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.
P. Richter-Pechańska, J. B. Kunz, T. Rausch, B. Erarslan-Uysal, B. Bornhauser, V. Frismantas, Y. Assenov, M. Zimmermann, M. Happich, C. von Knebel-Doeberitz, et al.
Leukemia. 18 May 2022

Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes.
A. Pérez-Martí, S. Ramakrishnan, J. Li, A. Dugourd, M. R. Molenaar, L. R. De La Motte, K. Grand, A. Mansouri, M. Parisot, S. S. Lienkamp, et al.
eLife. 12 May 2022

Oncolytic H-1 Parvovirus Hijacks Galectin-1 to Enter Cancer Cells.
T. Ferreira, A. Kulkarni, C. Bretscher, P. Nazarov, J. Hossain, L. Ystaas, H. Miletic, R. Röth, B. Niesler, A. Marchini.
Viruses. 11 May 2022

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
E. R. Riggs, T. I. Bingaman, C. Barry, A. Behlmann, K. Bluske, B. Bostwick, A. Bright, C. Chen, A. R. Clause, A. V. Dharmadhikari, et al.
Genetics in Medicine. May 2022

Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?.
V. Theobald, N. Benjamin, H. Seyfarth, M. Halank, M. A. Schneider, S. Richtmann, K. Hinderhofer, P. Xanthouli, B. Egenlauf, R. Seeger, et al.
Genes. 26 April 2022

NGS allele counts versus called genotypes for testing genetic association.
R. González Silos, C. Fischer, J. Lorenzo Bermejo.
Computational and Structural Biotechnology Journal. 2022

Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
K. Rhiem, B. Auber, S. Briest, N. Dikow, N. Ditsch, N. Dragicevic, S. Grill, E. Hahnen, J. Horvath, B. Jaeger, et al.
Breast Care. 19 July 2021

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
S. Li, V. Silvestri, G. Leslie, T. R. Rebbeck, S. L. Neuhausen, J. L. Hopper, H. R. Nielsen, A. Lee, X. Yang, L. McGuffog, et al.
JCO. 10 May 2022

Lysozyme amyloidosis—a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.
S. Anker, K. Hinderhofer, J. Baur, C. Haupt, C. Röcken, J. Beimler, M. Zeier, M. Weiler, E. Wühl, C. Kimmich, et al.
Amyloid. 9 May 2022

A Nonviable Probiotic in Irritable Bowel Syndrome: A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study.
I. Mack, J. Schwille-Kiuntke, N. Mazurak, B. Niesler, K. Zimmermann, H. Mönnikes, P. Enck.
Clinical Gastroenterology and Hepatology. May 2022

Drosophila melanogaster: a simple genetic model of kidney structure, function and disease.
J. A. T. Dow, M. Simons, M. F. Romero.
Nat Rev Nephrol. 11 April 2022

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
M. Bertacchi, C. Tocco, C. P. Schaaf, M. Studer.
Cells. 8 April 2022

Inflammation induces pro-NETotic neutrophils via TNFR2 signaling.
F. Neuenfeldt, J. C. Schumacher, R. Grieshaber-Bouyer, J. Habicht, J. Schröder-Braunstein, A. Gauss, U. Merle, B. Niesler, N. Heineken, A. Dalpke, et al.
Cell Reports. 2022 April;39(3):110710. doi: 10.1016/j.celrep.2022.110710.

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
C. A. Eichstaedt, Z. Saßmannshausen, M. Shaukat, D. Cao, P. Xanthouli, H. Gall, N. Sommer, H. Ghofrani, H. Seyfarth, M. Lerche, et al.
Respir Res. 27 March 2022

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
T. J. Demal, T. Scholz, H. Schüler, J. Olfe, A. Fröhlich, F. Speth, Y. von Kodolitsch, T. S. Mir, H. Reichenspurner, C. Kubisch, et al.
Sci Rep. 16 March 2022

The need for recognition of core professional groups in genetics healthcare services in Europe.
M. Paneque, T. Liehr, C. Serra Juhé, U. Moog, B. Melegh, I. Carreira.
Eur J Hum Genet. 14 March 2022

Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression.
J. Rehnitz, B. Messmer, U. Bender, X. P. Nguyen, A. Germeyer, K. Hinderhofer, T. Strowitzki, E. Capp.
Reprod Biol Endocrinol. 5 March 2022

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
P. C. Marcogliese, S. L. Deal, J. Andrews, J. M. Harnish, V. H. Bhavana, H. K. Graves, S. Jangam, X. Luo, N. Liu, D. Bei, et al.
Cell Reports. March 2022

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation.
X. P. Nguyen, A. Vilkaite, B. Messmer, J. E. Dietrich, K. Hinderhofer, K. Schäkel, T. Strowitzki, J. Rehnitz.
Genes. 1 March 2022

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
J. van der Spek, J. den Hoed, L. Snijders Blok, A. J. Dingemans, D. Schijven, C. Nellaker, H. Venselaar, G. D. Astuti, T. S. Barakat, E. M. Bebin, et al.
Genetics in Medicine. March 2022

Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement.
N. Berghaus, S. Schreiner, M. Granzow, C. Müller-Tidow, U. Hegenbart, S. O. Schönland, S. Huhn.
PLoS ONE. 25 February 2022

Lysosomal cystine mobilization shapes the response of TORC1 and tissue growth to fasting.
P. Jouandin, Z. Marelja, Y. Shih, A. A. Parkhitko, M. Dambowsky, J. M. Asara, I. Nemazanyy, C. C. Dibble, M. Simons, N. Perrimon.
Science. 18 February 2022

PIGN encephalopathy: Characterizing the epileptology.
A. Bayat, G. Valles‐Ibáñez, M. Pendziwiat, A. Knaus, K. Alt, E. Biamino, A. Bley, S. Calvert, P. Carney, A. Caro‐Llopis, et al.
Epilepsia. 18 February 2022

Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome.
J. Wang, H. Fröhlich, F. B. Torres, R. L. Silva, G. Poschet, A. Agarwal, G. A. Rappold.
Proc. Natl. Acad. Sci. U.S.A.. 14 February 2022

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
T. Hsieh, A. Bar-Haim, S. Moosa, N. Ehmke, K. W. Gripp, J. T. Pantel, M. Danyel, M. A. Mensah, D. Horn, S. Rosnev, et al.
Nat Genet. 10 February 2022

Adverse Effects of Vemurafenib on Skin Integrity: Hyperkeratosis and Skin Cancer Initiation Due to Altered MEK/ERK-Signaling and MMP Activity.
M. Tham, H. Stark, A. Jauch, C. Harwood, E. Pavez Lorie, P. Boukamp.
Front. Oncol.. 31 January 2022

Encephalocraniocutaneous Lipomatosis.
U. Moog, W. B. Dobyns.
GeneReviews®. 27 January 2022

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
S. Li, V. Silvestri, G. Leslie, T. R. Rebbeck, S. L. Neuhausen, J. L. Hopper, H. R. Nielsen, A. Lee, X. Yang, L. McGuffog, et al.
JCO. 25 January 2022

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.
N. Giesen, N. Paramasivam, U. H. Toprak, D. Huebschmann, J. Xu, S. Uhrig, M. Samur, S. Bähr, M. Fröhlich, S. S. Mughal, et al.
haematol. 20 January 2022

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
C. Wang, S. Seltzsam, B. Zheng, C. W. Wu, C. Nicolas‐Frank, K. Yousef, K. S. Au, N. Mann, D. Pantel, S. Schneider, et al.
American J of Med Genetics Pt A. 18 January 2022

Disrupted Mitochondrial Network Drives Deficits of Learning and Memory in a Mouse Model of FOXP1 Haploinsufficiency.
J. Wang, G. A. Rappold, H. Fröhlich.
Genes. 11 January 2022

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns.
S. C. Titgemeyer, C. P. Schaaf.
JMIR Pediatr Parent. 6 January 2022

Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome.
P. Erhart, D. Körfer, C. Grond-Ginsbach, J. Qiao, M. S. Bischoff, M. Hempel, C. P. Schaaf, A. Grau, D. Böckler.
JCDD. 5 January 2022

Impact of Homoarginine on Myocardial Function and Remodeling in a Rat Model of Chronic Renal Failure.
V. Koch, C. Weber, J. H. Riffel, K. Buchner, S. J. Buss, S. Hein, D. Mereles, M. Hagenmueller, C. Erbel, W. März, et al.
J Cardiovasc Pharmacol Ther. 1 January 2022

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
J. Park, A. Reilaender, J. N. Petry-Schmelzer, P. Stöbe, I. Cordts, F. Harmuth, M. Rautenberg, S. E. Woerz, G. Demidov, M. Sturm, et al.
Neurol Genet. 7 December 2021

Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
P. Vick, B. Eberle, D. Choukair, B. Weiss, R. Roeth, I. Schneider, N. Paramasivam, M. Bettendorf, G. A. Rappold.
Genes. 24 November 2021

Europe’s Roma people are vulnerable to poor practice in genetics.
V. Lipphardt, M. Surdu, N. Ellebrecht, P. Pfaffelhuber, M. Wienroth, G. A. Rappold.
Nature. 17 November 2021

Publisher Correction: Bortezomib-based induction, high-dose melphalan and lenalidomide maintenance in myeloma up to 70 years of age.
E. K. Mai, K. Miah, U. Bertsch, J. Dürig, C. Scheid, K. C. Weisel, C. Kunz, M. Munder, H. Lindemann, M. Merz, et al.
Leukemia. 16 November 2021

Prognostic impact of hypochromic erythrocytes in patients with pulmonary arterial hypertension.
P. Xanthouli, V. Theobald, N. Benjamin, A. M. Marra, A. D’Agostino, B. Egenlauf, M. Shaukat, C. Ding, A. Cittadini, E. Bossone, et al.
Respir Res. 9 November 2021

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
R. J. Falb, A. J. Müller, W. Klein, M. Grimmel, U. Grasshoff, S. Spranger, P. Stöbe, D. Gauck, A. Kuechler, N. Dikow, et al.
J Med Genet. 5 November 2021

Isatuximab, carfilzomib, lenalidomide, and dexamethasone (Isa-KRd) in front-line treatment of high-risk multiple myeloma: interim analysis of the GMMG-CONCEPT trial.
L. B. Leypoldt, B. Besemer, A. M. Asemissen, M. Hänel, I. W. Blau, M. Görner, Y. Ko, H. C. Reinhardt, P. Staib, C. Mann, et al.
Leukemia. 3 November 2021

Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research.
Y. Sakai, S. Okuzono, C. P. Schaaf, S. Ohga.
Pediatr Res. 26 October 2021

Prevalence of the GFI1-36N SNP in Multiple Myeloma Patients and Its Impact on the Prognosis.
C. Khandanpour, C. Eisfeld, S. C. Nimmagadda, M. S. Raab, N. Weinhold, A. Seckinger, D. Hose, A. Jauch, A. Försti, K. Hemminki, et al.
Front. Oncol.. 25 October 2021

Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
T. Bartram, P. Schütte, A. Möricke, R. S. Houlston, E. Ellinghaus, M. Zimmermann, A. Bergmann, B. Löscher, N. Klein, L. Hinze, et al.
JCM. 20 October 2021

Polymorphisms of the Serotonin Type 3 (5-HT3) Receptor Subunit Genes Associated with Symptoms of Depression and Anxiety in Irritable Bowel Syndrome: a Multi-center Observational Study.
S. Berens, Y. Dong, N. Fritz, J. Walstab, V. Wahl, C. Martinez, S. Schmitteckert, ..., G. A. Rappold, ..., R. Schaefert, B. Niesler.
World J Gastroenterol. 2021, accepted.

The prognostic significance of [18F]FDG PET/CT in multiple myeloma according to novel interpretation criteria (IMPeTUs).
C. Sachpekidis, M. Merz, M. Raab, U. Bertsch, V. Weru, A. Kopp-Schneider, A. Jauch, H. Goldschmidt, A. Dimitrakopoulou-Strauss.
EJNMMI Res. 9 October 2021

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
J. M. Schraw, R. H. Benjamin, D. A. Scott, B. P. Brooks, R. B. Hufnagel, S. D. McLean, H. Northrup, P. H. Langlois, M. A. Canfield, A. E. Scheuerle, et al.
Ophthalmic epidemiology. October 2021

Enhancer-associated H3K4 methylation safeguards in vitro germline competence.
T. Bleckwehl, G. Crispatzu, K. Schaaf, P. Respuela, M. Bartusel, L. Benson, S. J. Clark, K. M. Dorighi, A. Barral, M. Laugsch, et al.
Nat Commun. 1 October 2021

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
S. Hettmer, G. Dachy, G. Seitz, A. Agaimy, C. Duncan, M. Jongmans, S. Hirsch, I. Kventsel, U. Kordes, R. R. de Krijger, et al.
Familial cancer. October 2021

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
N. Mirza-Schreiber, M. Zech, R. Wilson, T. Brunet, M. Wagner, R. Jech, S. Boesch, M. Škorvánek, J. Necpál, D. Weise, et al.
Brain. 30 September 2021

Prognostic Impact of Serum Free Light Chain Ratio Normalization in Patients with Multiple Myeloma Treated within the GMMG-MM5 Trial.
E. Klein, D. Tichy, H. Salwender, E. Mai, J. Duerig, K. Weisel, A. Benner, U. Bertsch, M. Akhavanpoor, B. Besemer, et al.
Cancers. 28 September 2021

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16‐year‐old girl.
C. Dietrich, M. Salzmann, E. Streit, F. Toberer, S. Emmert, N. Dikow, H. Haenssle.
Australas J Dermatol. 27 September 2021

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study.
N. Rippinger, C. Fischer, H. Sinn, N. Dikow, C. Sutter, K. Rhiem, S. Grill, F. W. Cremer, H. P. Nguyen, N. Ditsch, et al.
Cancer Med. 26 September 2021

Parental perceptions of genetic testing for children with autism spectrum disorders.
H. M. Lucas, A. M. Lewis, P. J. Lupo, C. P. Schaaf.
Am J Med Genet. 25 September 2021

Protect minorities in genetic research.
V. Lipphardt, G. A. Rappold, M. Surdu.
Science. 24 September 2021

MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell Migration.
L. Stüssel, R. Hollstein, M. Laugsch, L. Hochfeld, J. Welzenbach, J. Schröder, F. Thieme, N. Ishorst, R. Romero, L. Weinhold, et al.
J Dent Res. 16 September 2021

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
A. Gregor, T. Meerbrei, T. Gerstner, A. Toutain, S. A. Lynch, K. Stals, C. Maxton, J. R. Lemke, J. A. Bernat, H. M. Bombei, et al.
Oxford University Press (OUP). 9 September 2021

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
I. M. Lakeman, A. J. van den Broek, J. A. Vos, D. R. Barnes, J. Adlard, I. L. Andrulis, A. Arason, N. Arnold, B. K. Arun, J. Balmaña, et al.
Genetics in Medicine. September 2021

FMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian Response.
J. Rehnitz, E. Capp, B. Messmer, X. P. Nguyen, A. Germeyer, A. Freis, J. E. Dietrich, K. Hinderhofer, T. Strowitzki, P. H. Vogt.
JCM. 30 August 2021

Longitudinal analyses of CLL in mice identify leukemia-related clonal changes including a Myc gain predicting poor outcome in patients.
S. Öztürk, Y. Paul, S. Afzal, I. Gil-Farina, A. Jauch, P. Bruch, V. Kalter, B. Hanna, L. Arseni, P. M. Roessner, et al.
Leukemia. 20 August 2021

The pediatric precision oncology INFORM registry: clinical outcome and benefit for patients with very high-evidence targets.
C. M. van Tilburg, E. Pfaff, K. W. Pajtler, K. P. Langenberg, P. Fiesel, B. C. Jones, G. P. Balasubramanian, S. Stark, P. D. Johann, M. Blattner-Johnson, et al.
Cancer Discov. 9 August 2021

Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.
P. Horak, J. Leichsenring, H. Goldschmid, S. Kreutzfeldt, D. Kazdal, V. Teleanu, V. Endris, L. Gieldon, M. Allgäuer, A. Volckmar, et al.
Genes Chromosomes Cancer. 9 August 2021

Lenalidomide and dexamethasone in relapsed/refractory immunoglobulin light chain (AL) amyloidosis: results from a large cohort of patients with long follow‐up.
M. Basset, C. R. Kimmich, N. Schreck, J. Krzykalla, T. Dittrich, K. Veelken, H. Goldschmidt, A. Seckinger, D. Hose, A. Jauch, et al.
Br J Haematol. 3 August 2021

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
F. Marbach, G. Stoyanov, F. Erger, C. A. Stratakis, N. Settas, E. London, J. A. Rosenfeld, E. Torti, C. Haldeman-Englert, E. Sklirou, et al.
Genetics in Medicine. August 2021

Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1–64.e8].
K. L. Ludorf, R. H. Benjamin, M. L. Navarro Sanchez, S. D. McLean, H. Northrup, L. E. Mitchell, P. H. Langlois, M. A. Canfield, A. E. Scheuerle, D. A. Scott, et al.
Journal of Pediatric Urology. August 2021

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
C. Velmans, A. H. O'Donnell-Luria, E. Argilli, F. Tran Mau-them, A. Vitobello, M. C. Chan, J. L. Fung, M. Rech, A. Abicht, M. Aubert Mucca, et al.
J Med Genet. 28 July 2021

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
D. R. Barnes, V. Silvestri, G. Leslie, L. McGuffog, J. Dennis, X. Yang, J. Adlard, B. A. Agnarsson, M. Ahmed, K. Aittomäki, et al.
Oxford University Press (OUP). 28 July 2021

A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR ‐associated syndromic microphthalmia.
E. M. C. Schwaibold, M. Brugger, M. Wagner.
Clinical Genetics. 26 July 2021

Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
A. Eltokhi, M. A. Gonzalez-Lozano, L. Oettl, A. Rozov, C. Pitzer, R. Röth, S. Berkel, M. Hüser, A. Harten, W. Kelsch, et al.
Mol Psychiatry. 8 July 2021

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
F. Semino, J. Schröter, M. H. Willemsen, T. Bast, S. Biskup, S. Beck‐Woedl, H. Brennenstuhl, C. P. Schaaf, S. Kölker, G. F. Hoffmann, et al.
Human Mutation. 5 July 2021

Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.
J. Borde, C. Ernst, B. Wappenschmidt, D. Niederacher, K. Weber-Lassalle, G. Schmidt, J. Hauke, A. S. Quante, N. Weber-Lassalle, J. Horváth, et al.
Journal of the National Cancer Institute. 1 July 2021

Birth defect co-occurrence patterns in the Texas Birth Defects Registry.
R. H. Benjamin, A. E. Scheuerle, D. A. Scott, M. L. Navarro Sanchez, P. H. Langlois, M. A. Canfield, H. Northrup, C. P. Schaaf, J. W. Ray, S. D. McLean, et al.
Pediatr Res. 30 June 2021

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome.
S. Mohr, N. Fritz, C. Hammer, C. Martínez, S. Berens, S. Schmitteckert, V. Wahl, M. Schmidt, L. A. Houghton, M. Goebel‐Stengel, et al.
J Cell Mol Med. 24 June 2021

Oncolytic H-1 parvovirus binds to sialic acid on laminins for cell attachment and entry.
A. Kulkarni, T. Ferreira, C. Bretscher, A. Grewenig, N. El-Andaloussi, S. Bonifati, T. Marttila, V. Palissot, J. A. Hossain, F. Azuaje, et al.
Nat Commun. 22 June 2021

Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers.
P. Horak, C. Heining, S. Kreutzfeldt, B. Hutter, A. Mock, J. Hullein, M. Frohlich, S. Uhrig, A. Jahn, A. Rump, et al.
Cancer Discov. 10 June 2021

A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome.
N. R. Hebach, P. Caro, B. A. Martin‐Giacalone, P. J. Lupo, F. Marbach, D. Choukair, C. P. Schaaf.
Clinical Genetics. 6 June 2021

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
B. Weiss, B. Eberle, R. Roeth, C. de Bruin, J. C. Lui, N. Paramasivam, K. Hinderhofer, H. A. van Duyvenvoorde, J. Baron, J. M. Wit, et al.
Front. Endocrinol.. 4 June 2021

Chromosome 1q21 abnormalities refine outcome prediction in patients with multiple myeloma – a meta-analysis of 2,596 trial patients.
N. Weinhold, H. J. Salwender, D. A. Cairns, M. S. Raab, G. Waldron, I. W. Blau, U. Bertsch, T. Hielscher, G. J. Morgan, A. Jauch, et al.
haematol. 3 June 2021

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset.
M. Gries, A. Christmann, S. Schulte, M. Weyland, S. Rommel, M. Martin, M. Baller, R. Röth, S. Schmitteckert, M. Unger, et al.
Mol Neurodegeneration. 2 June 2021

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
J. Kummeling, D. E. Stremmelaar, N. Raun, M. R. F. Reijnders, M. H. Willemsen, M. Ruiterkamp-Versteeg, M. Schepens, C. C. O. Man, C. Gilissen, M. T. Cho, et al.
Molecular psychiatry. June 2021

A Nonviable Probiotic in Irritable Bowel Syndrome: A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study.
I. Mack, J. Schwille-Kiuntke, N. Mazurak, B. Niesler, K. Zimmermann, H. Mönnikes, P. Enck.
Clinical Gastroenterology and Hepatology. June 2021

Cancer predisposition in pediatric neuro-oncology—practical approaches and ethical considerations.
S. Hirsch, N. Dikow, S. M. Pfister, K. W. Pajtler.
Neuro-Oncology Practice. 28 May 2021

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.
S. Hoffmann, R. Roeth, S. Diebold, J. Gogel, D. Hassel, S. Just, G. A. Rappold.
Front. Genet.. 27 May 2021

Long-term follow-up of subcutaneous versus intravenous bortezomib during induction therapy for newly diagnosed multiple myeloma treated within the GMMG-MM5 Phase III Trial.
H. Salwender, A. Elmaagacli, M. Merz, K. Miah, A. Benner, M. Haenel, C. Jehn, E. K. Mai, U. Bertsch, I. W. Blau, et al.
Leukemia. 24 May 2021

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
A. Eltokhi, M. A. Gonzalez-Lozano, L. Oettl, A. Rozov, C. Pitzer, R. Röth, S. Berkel, M. Hüser, A. Harten, W. Kelsch, et al.
Mol Psychiatry. 21 May 2021

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Y. Kargapolova, R. Rehimi, H. Kayserili, J. Brühl, K. Sofiadis, A. Zirkel, S. Palikyras, A. Mizi, Y. Li, G. Yigit, et al.
Nat Commun. 21 May 2021

Daratumumab, lenalidomide, and dexamethasone in systemic light‐chain amyloidosis: High efficacy, relevant toxicity and main adverse effect of gain 1q21.
C. R. Kimmich, T. Terzer, A. Benner, T. Hansen, A. Carpinteiro, T. Dittrich, K. Veelken, A. Jauch, S. Huhn, M. Basset, et al.
Am J Hematol. 3 May 2021

Germline testing for homologous recombination repair genes-opportunities and challenges.
S. Hirsch, L. Gieldon, C. Sutter, N. Dikow, C. P. Schaaf.
Genes, chromosomes & cancer. May 2021

A versatile system to introduce clusters of genomic double-strand breaks in large cell populations.
T. Kolb, U. Khalid, M. Simović, M. Ratnaparkhe, J. Wong, A. Jauch, P. Schmezer, A. Rode, S. Sebban, D. Haag, et al.
Genes, chromosomes & cancer. May 2021

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder.
B. Niesler, G. A. Rappold.
Molecular psychiatry. May 2021

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
M. L. N. Sanchez, R. H. Benjamin, L. E. Mitchell, P. H. Langlois, M. A. Canfield, M. D. Swartz, A. E. Scheuerle, D. A. Scott, H. Northrup, C. P. Schaaf, et al.
The Cleft Palate-Craniofacial Journal. 28 April 2021

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).
L. Guerrini-Rousseau, M. J. Smith, C. P. Kratz, B. Doergeloh, S. Hirsch, S. M. J. Hopman, M. Jorgensen, M. Kuhlen, O. Michaeli, T. Milde, et al.
Familial Cancer. 16 April 2021

Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control.
S. Hoffmann, S. Schmitteckert, K. Raedecke, D. Rheinert, S. Diebold, R. Roeth, B. Weiss, M. Granzow, B. Niesler, A. Griesbeck, et al.
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. April 2021

CATCH: A Prospective Precision Oncology Trial in Metastatic Breast Cancer.
M. Hlevnjak, M. Schulze, S. Elgaafary, C. Fremd, L. Michel, K. Beck, K. Pfütze, D. Richter, S. Wolf, P. Horak, et al.
JCO Precision Oncology. April 2021

Salvage autologous transplant and lenalidomide maintenance vs. lenalidomide/dexamethasone for relapsed multiple myeloma: the randomized GMMG phase III trial ReLApsE.
H. Goldschmidt, M. A. Baertsch, J. Schlenzka, N. Becker, C. Habermehl, T. Hielscher, M. S. Raab, J. Hillengass, S. Sauer, C. Müller-Tidow, et al.
Leukemia. April 2021

Genomic newborn screening: Proposal of a two‐stage approach.
C. P. Schaaf, S. Kölker, G. F. Hoffmann.
Jrnl of Inher Metab Disea. 29 March 2021

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
D. Diaz, R. H. Benjamin, M. L. Navarro Sanchez, L. E. Mitchell, P. H. Langlois, M. A. Canfield, H. Chen, A. E. Scheuerle, C. P. Schaaf, D. A. Scott, et al.
Am J Med Genet. 22 March 2021

A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1.
M. Kotzerke, F. Mitri, F. Marbach, A. Enk, H. Haenssle.
J Eur Acad Dermatol Venereol. 15 March 2021

Bortezomib-based induction, high-dose melphalan and lenalidomide maintenance in myeloma up to 70 years of age.
E. K. Mai, K. Miah, U. Bertsch, J. Dürig, C. Scheid, K. C. Weisel, C. Kunz, M. Munder, H. W. Lindemann, M. Merz, et al.
Leukemia. March 2021

Selective elimination of immunosuppressive T cells in patients with multiple myeloma.
M. H. S. Awwad, A. Mahmoud, H. Bruns, H. Echchannaoui, K. Kriegsmann, R. Lutz, M. S. Raab, U. Bertsch, M. Munder, A. Jauch, et al.
Leukemia. 17 February 2021

Germ cell mosaicism for AUTS2 exon 6 deletion.
L. Gieldon, A. Jauch, K. Obeid, L. Kaufmann, K. Hinderhofer, U. Haug, U. Moog.
Am J Med Genet. 12 February 2021

Schaaf-Yang Syndrome
C. P. Schaaf, F. Marbach.
Gene Reviews. 11 February 2021

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
M. Brugger, T. Brunet, M. Wagner, L. E. Orec, E. M. C. Schwaibold, N. Boy.
Gene. 5 February 2021

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
M. C. Frühwald, K. Nemes, H. Boztug, M. C. A. Cornips, D. G. Evans, R. Farah, S. Glentis, M. Jorgensen, K. Katsibardi, S. Hirsch, et al.
Familial Cancer. 3 February 2021

Expression Profiling of Rectal Biopsies Suggests Altered Enteric Neuropathological Traits in Parkinson’s Disease Patients.
F. Cossais, E. Schaeffer, S. Heinzel, J. Zimmermann, B. Niesler, R. Röth, G. Rappold, A. Scharf, D. Zorenkov, C. Lange, et al.
JPD. 2 February 2021

A boy with Silver-Russell syndrome and Sotos syndrome.
E. M. C. Schwaibold, J. Beygo, K. Obeid, A. Jauch, K. Hinderhofer, U. Moog.
American journal of medical genetics. Part A. February 2021

Patterns of co-occurring birth defects among infants with hypospadias.
K. L. Ludorf, R. H. Benjamin, M. L. Navarro Sanchez, S. D. McLean, H. Northrup, L. E. Mitchell, P. H. Langlois, M. A. Canfield, A. E. Scheuerle, D. A. Scott, et al.
Journal of Pediatric Urology. February 2021

Disorders of the enteric nervous system — a holistic view.
B. Niesler, S. Kuerten, I. E. Demir, K. Schäfer.
Nat Rev Gastroenterol Hepatol. 29 January 2021

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome.
T. Stern, E. H. Crutcher, J. M. McCarthy, M. A. Ali, G. Issachar, A. B. Geva, Z. Peremen, C. P. Schaaf.
Front. Neurosci.. 28 January 2021

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
C. Unsicker, F. Cristian, M. von Hahn, V. Eckstein, G. A. Rappold, S. Berkel.
Sci Rep. 22 January 2021

Analysis of nonleukemic cellular subcompartments reconstructs clonal evolution of acute myeloid leukemia and identifies therapy‐resistant preleukemic clones.
B. R. Saeed, L. Manta, S. Raffel, P. T. Pyl, E. C. Buss, W. Wang, V. Eckstein, A. Jauch, A. Trumpp, W. Huber, et al.
Int. J. Cancer. 18 January 2021

The Role of Brain-Derived Neurotrophic Factor in Irritable Bowel Syndrome.
T. J. Konturek, C. Martinez, B. Niesler, I. van der Voort, H. Mönnikes, A. Stengel, M. Goebel-Stengel.
Front. Psychiatry. 14 January 2021

The Experience, Prerequisites, and the Barriers in Organizing a Specialized Rehabilitation Program for Patients with Pulmonary Hypertension.
E. Palevičiūtė, L. Gumbienė, E. Jurevičienė, T. Šimbelytė, I. Laucevičienė, A. Laucevičius, J. Barysienė, C. A. Eichstaedt, N. Benjamin, E. Grünig, et al.
Respiration. 2021

Effect of Supervised Training Therapy on Pulmonary Arterial Compliance and Stroke Volume in Severe Pulmonary Arterial Hypertension and Inoperable or Persistent Chronic Thromboembolic Pulmonary Hypertension.
C. Nagel, N. Benjamin, B. Egenlauf, C. A. Eichstaedt, C. Fischer, E. Palevičiūtė, J. Čelutkienė, S. Harutyunova, E. Mayer, M. Nasereddin, et al.
Respiration. 2021

Fecal Microbiome Diversity in Irritable Bowel Syndrome (IBS) Clinical Subtypes.
J. Ramic, I. Milovac, Z. Mavija, N. Lojo-Kadric, M. Hadzic, S. Vidovic, B. Niesler, N. Dovrolis, M. Gazouli, N. Pojskic, et al.
Arch Clin Biomed Res. 2021

Lenalidomide versus bortezomib maintenance after frontline autologous stem cell transplantation for multiple myeloma.
M. Baertsch, E. K. Mai, T. Hielscher, U. Bertsch, H. J. Salwender, M. Munder, S. Fuhrmann, U. Dührsen, P. Brossart, et al.
Blood Cancer J. January 2021

Quantitative retrospective natural history modeling for orphan drug development.
S. F. Garbade, M. Zielonka, S. Komatsuzaki, S. Kölker, G. F. Hoffmann, K. Hinderhofer, W. K. Mountford, E. Mengel, T. Sláma, K. Mechler, et al.
Journal of inherited metabolic disease. January 2021


Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.
J. Borde, C. Ernst, B. Wappenschmidt, D. Niederacher, K. Weber-Lassalle, G. Schmidt, J. Hauke, A. S. Quante, N. Weber-Lassalle, J. Horváth, et al.
Journal of the National Cancer Institute. December 2021

Right Heart Size and Right Ventricular Reserve in Pulmonary Hypertension: Impact on Management and Prognosis.
E. Grünig, C. A. Eichstaedt, R. Seeger, N. Benjamin.
Diagnostics. 21 December 2020

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
J. M. Schraw, R. H. Benjamin, D. A. Scott, B. P. Brooks, R. B. Hufnagel, S. D. McLean, H. Northrup, P. H. Langlois, M. A. Canfield, A. E. Scheuerle, et al.
Ophthalmic Epidemiology. 20 December 2020

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
E. M. Swietlik, D. Greene, N. Zhu, K. Megy, M. Cogliano, S. Rajaram, D. Pandya, T. Tilly, K. A. Lutz, C. C. Welch, et al.
Circ: Genomic and Precision Medicine. 15 December 2020

Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience.
M. N. Ungerer, E. Hund, J. C. Purrucker, L. Huber, C. Kimmich, F. aus dem Siepen, S. Hein, A. V. Kristen, K. Hinderhofer, J. Kollmer, et al.
Amyloid. 7 December 2020

Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent.
F. B. Cristian, A. Köppel, J. Janssen, J. S. Utikal, G. A. Rappold, S. Berkel.
Stem cell research. December 2020

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
M. Cannata Serio, L. A. Graham, A. Ashikov, L. E. Larsen, K. Raymond, S. Timal, G. Le Meur, M. Ryan, E. Czarnowska, J. C. Jansen, et al.
Hepatology (Baltimore, Md.). December 2020

Standardized exercise training is feasible, safe, and effective in pulmonary arterial and chronic thromboembolic pulmonary hypertension: results from a large European multicentre randomized controlled trial.
E. Grünig, A. MacKenzie, A. J. Peacock, C. A. Eichstaedt, N. Benjamin, R. Nechwatal, S. Ulrich, S. Saxer, M. Bussotti, M. Sommaruga, et al.
Oxford University Press (OUP). 24 November 2020

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis.
S. C. Titgemeyer, C. P. Schaaf.
JMIR pediatrics and parenting. 19 November 2020

Chromothripsis in Human Breast Cancer.
M. Bolkestein, J. K. L. Wong, V. Thewes, V. Körber, M. Hlevnjak, S. Elgaafary, M. Schulze, F. K. F. Kommoss, H. P. Sinn, T. Anzeneder, et al.
Cancer research. 15 November 2020

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
T. Grimm, M. Garshasbi, L. Puettmann, W. Chen, R. Ullmann, B. Müller-Myhsok, E. Klopocki, L. Herbst, J. Haug, L. R. Jensen, et al.
Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie. November 2020

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
O. O. Oluwafemi, R. H. Benjamin, M. L. Navarro Sanchez, A. E. Scheuerle, C. P. Schaaf, L. E. Mitchell, P. H. Langlois, M. A. Canfield, M. D. Swartz, D. A. Scott, et al.
American journal of medical genetics. Part A. November 2020

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
T. Mederer, S. Schmitteckert, J. Volz, C. Martínez, R. Röth, T. Thumberger, V. Eckstein, J. Scheuerer, C. Thöni, F. Lasitschka, et al.
PLoS genetics. November 2020

Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.
W. T. Powell, C. P. Schaaf, M. E. Rech, J. Wrede.
Pediatric pulmonology. November 2020

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
D. Lenz, D. E. C. Smith, E. Crushell, R. A. Husain, G. S. Salomons, B. Alhaddad, J. A. Bernstein, A. Bianzano, S. Biskup, H. Brennenstuhl, et al.
Genetics in medicine : official journal of the American College of Medical Genetics. November 2020

Acute Stanford type B aortic dissection—who benefits from genetic testing?.
P. Erhart, L. Gieldon, M. Ante, D. Körfer, T. Strom, C. Grond-Ginsbach, D. Böckler.
J Thorac Dis. November 2020

Globally altered epigenetic landscape and delayed osteogenic differentiation in H3.3-G34W-mutant giant cell tumor of bone.
P. Lutsik, A. Baude, D. Mancarella, S. Öz, A. Kühn, R. Toth, J. Hey, U. H. Toprak, J. Lim, V. H. Nguyen, et al.
Nature communications. 27 October 2020

The adult phenotype of Schaaf-Yang syndrome.
F. Marbach, M. Elgizouli, M. Rech, J. Beygo, F. Erger, C. Velmans, C. T. R. M. Stumpel, A. P. A. Stegmann, S. Beck-Wödl, G. Gillessen-Kaesbach, et al.
Orphanet journal of rare diseases. 19 October 2020

Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib Selection.
S. A. Sumer, S. Hoffmann, S. Laue, B. Campbell, K. Raedecke, V. Frajs, S. Clauss, S. Kääb, J. W. G. Janssen, A. Jauch, et al.
Stem cell reports. 13 October 2020

BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.
J. Song, K. Hinderhofer, L. T. Kaufmann, N. Benjamin, C. Fischer, E. Grünig, C. A. Eichstaedt.
Genes. 6 October 2020

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
C. A. Chen, E. Crutcher, H. Gill, T. N. Nelson, L. A. Robak, M. C. J. Jongmans, R. Pfundt, C. Prasad, R. A. Berard, M. Fannemel, et al.
Human mutation. October 2020

Germline SDHB-inactivating mutation in gastric spindle cell sarcoma.
C. E. Heilig, P. Horak, D. B. Lipka, A. Mock, S. Uhrig, S. Kreutzfeldt, S. Richter, L. Gieldon, M. Fröhlich, B. Hutter, et al.
Genes, chromosomes & cancer. October 2020

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
D. R. Barnes, M. A. Rookus, L. McGuffog, G. Leslie, T. M. Mooij, J. Dennis, N. Mavaddat, J. Adlard, M. Ahmed, K. Aittomäki, et al.
Genetics in medicine : official journal of the American College of Medical Genetics. October 2020

Characterisation of the novel spontaneously immortalized and invasively growing human skin keratinocyte line HaSKpw.
E. Pavez Lorie, N. Stricker, B. Plitta-Michalak, I. Chen, B. Volkmer, R. Greinert, A. Jauch, P. Boukamp, A. Rapp.
Sci Rep. 16 September 2020

Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
N. Rippinger, C. Fischer, M. W. Haun, K. Rhiem, S. Grill, M. Kiechle, F. W. Cremer, K. Kast, H. P. Nguyen, N. Ditsch, et al.
Cancer. 1 September 2020

Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disorders.
C. Martínez, F. Lasitschka, C. Thöni, C. Wohlfarth, A. Braun, M. Granzow, R. Röth, V. Dizdar, G. A. Rappold, T. Hausken, et al.
Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. September 2020

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
A. Khan, Z. Miao, M. Umair, A. Ullah, M. A. Alshabeeb, M. Bilal, F. Ahmad, G. A. Rappold, M. Ansar, R. Carapito.
Genes. 31 August 2020

Phenotypic and Imaging Spectrum Associated With WDR45.
L. A. Adang, A. Pizzino, A. Malhotra, H. Dubbs, C. Williams, O. Sherbini, A. K. Anttonen, G. Lesca, T. Linnankivi, C. Laurencin, et al.
Pediatric neurology. August 2020

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
J. Yin, C. A. Chun, N. N. Zavadenko, N. L. Pechatnikova, O. Y. Naumova, H. V. Doddapaneni, J. Hu, D. M. Muzny, C. P. Schaaf, E. L. Grigorenko.
Genes. 25 July 2020

Response-adapted lenalidomide maintenance in newly diagnosed myeloma: results from the phase III GMMG-MM5 trial.
H. Goldschmidt, E. K. Mai, J. Dürig, C. Scheid, K. C. Weisel, C. Kunz, U. Bertsch, T. Hielscher, M. Merz, M. Munder, et al.
Leukemia. July 2020

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
M. M. Thomason, J. McCarthy, R. P. Goin-Kochel, L. R. Dowell, C. P. Schaaf, L. N. Berry.
Journal of autism and developmental disorders. July 2020

Functional interplay of Epstein-Barr virus oncoproteins in a mouse model of B cell lymphomagenesis.
T. Sommermann, T. Yasuda, J. Ronen, T. Wirtz, T. Weber, U. Sack, R. Caeser, J. Zhang, X. Li, V. T. Chu, et al.
Proceedings of the National Academy of Sciences of the United States of America. 23 June 2020

Piperlongumine Acts as an Immunosuppressant by Exerting Prooxidative Effects in Human T Cells Resulting in Diminished TH17 but Enhanced Treg Differentiation.
J. Liang, J. D. Ziegler, B. Jahraus, C. Orlik, R. Blatnik, N. Blank, B. Niesler, G. Wabnitz, T. Ruppert, K. Hübner, et al.
Frontiers in immunology. 12 June 2020

NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD.
M. Seimetz, N. Sommer, M. Bednorz, O. Pak, C. Veith, S. Hadzic, M. Gredic, N. Parajuli, B. Kojonazarov, S. Kraut, et al.
Nature metabolism. June 2020

A framework for an evidence-based gene list relevant to autism spectrum disorder.
C. P. Schaaf, C. Betancur, R. K. C. Yuen, J. R. Parr, D. H. Skuse, L. Gallagher, R. A. Bernier, J. A. Buchanan, J. D. Buxbaum, C. A. Chen, et al.
Nature reviews. Genetics. June 2020

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
M. E. Rech, J. M. McCarthy, C. A. Chen, J. C. Edmond, V. S. Shah, D. G. M. Bosch, G. T. Berry, L. Williams, S. Madan-Khetarpal, D. Niyazov, et al.
American journal of medical genetics. Part A. June 2020

Risk stratification and prognostic factors in patients with pulmonary arterial hypertension and comorbidities a cross-sectional cohort study with survival follow-up.
P. Xanthouli, M. Koegler, A. M. Marra, N. Benjamin, L. Fischer, C. A. Eichstaedt, S. Harutyunova, C. Nagel, E. Grünig, B. Egenlauf.
Respiratory research. 24 May 2020

Can 18F-NaF PET/CT before Autologous Stem Cell Transplantation Predict Survival in Multiple Myeloma?.
C. Sachpekidis, A. Kopp-Schneider, M. Merz, A. Jauch, M. S. Raab, H. Goldschmidt, A. Dimitrakopoulou-Strauss.
Cancers. 23 May 2020

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
C. Eßinger, S. Karch, U. Moog, G. Fekete, A. Lengyel, E. Pinti, T. Eggermann, M. Begemann.
Clinical epigenetics. 11 May 2020

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study.
C. A. Eichstaedt, J. Verweyen, M. Halank, N. Benjamin, C. Fischer, E. Mayer, S. Guth, C. B. Wiedenroth, B. Egenlauf, S. Harutyunova, et al.
International journal of molecular sciences. 8 May 2020

Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors.
M. W. Ronellenfitsch, P. N. Harter, M. Kirchner, C. Heining, B. Hutter, L. Gieldon, J. Schittenhelm, M. U. Schuhmann, M. Tatagiba, G. Marquardt, et al.
The Journal of clinical investigation. 1 May 2020

The (pro)renin receptor: what's in a name?.
M. Simons, M. Bader, D. N. Müller.
Nature reviews. Nephrology. May 2020

Genetics of pulmonary hypertension and high-altitude pulmonary edema.
C. A. Eichstaedt, N. Benjamin, E. Grünig.
Journal of applied physiology. May 2020

Daratumumab for systemic AL amyloidosis: prognostic factors and adverse outcome with nephrotic-range albuminuria.
C. R. Kimmich, T. Terzer, A. Benner, T. Dittrich, K. Veelken, A. Carpinteiro, T. Hansen, H. Goldschmidt, A. Seckinger, D. Hose, et al.
Blood. 30 April 2020

Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity.
L. Francelle, T. F. Outeiro, G. A. Rappold.
Scientific reports. 8 April 2020

Cytogenetic subclone formation and evolution in progressive smoldering multiple myeloma.
M. Merz, T. Hielscher, D. Schult, E. K. Mai, M. S. Raab, J. Hillengass, A. Seckinger, D. Hose, M. Granzow, A. Jauch, et al.
Leukemia. April 2020

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
B. Wappenschmidt, J. Hauke, U. Faust, D. Niederacher, L. Wiesmüller, G. Schmidt, E. Groß, A. Gehrig, C. Sutter, J. Ramser, et al.
Geburtshilfe und Frauenheilkunde. April 2020

ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans.
F. Boekstegers, K. Marcelain, C. Barahona Ponce, P. F. Baez Benavides, B. Müller, G. de Toro, J. Retamales, O. Barajas, M. Ahumada, E. Morales, et al.
Cancer epidemiology. April 2020

POLR3A variants with striatal involvement and extrapyramidal movement disorder.
I. Harting, M. Al-Saady, I. Krägeloh-Mann, A. Bley, M. Hempel, T. Bierhals, S. Karch, U. Moog, G. Bernard, R. Huntsman, et al.
Neurogenetics. April 2020

Fatal amyloid formation in a patient's antibody light chain is caused by a single point mutation.
P. Kazman, M. T. Vielberg, M. D. Pulido Cendales, L. Hunziger, B. Weber, U. Hegenbart, M. Zacharias, R. Köhler, S. Schönland, M. Groll, et al.
eLife. 10 March 2020

Therapeutic potential of KLF2-induced exosomal microRNAs in pulmonary hypertension.
H. A. Sindi, G. Russomanno, S. Satta, V. B. Abdul-Salam, K. B. Jo, B. Qazi-Chaudhry, A. J. Ainscough, R. Szulcek, H. Jan Bogaard, C. C. Morgan, et al.
Nature communications. 4 March 2020

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
C. Staufner, B. Peters, M. Wagner, S. Alameer, I. Barić, P. Broué, D. Bulut, J. A. Church, E. Crushell, B. Dalgıç, et al.
Genetics in medicine : official journal of the American College of Medical Genetics. March 2020

Genetic Predisposition to High-Altitude Pulmonary Edema.
C. A. Eichstaedt, H. Mairbäurl, J. Song, N. Benjamin, C. Fischer, C. Dehnert, K. Schommer, M. M. Berger, P. Bärtsch, E. Grünig, K. Hinderhofer.
High Altitude Medicine & Biology. 1 March 2020

The genomic and clinical landscape of fetal akinesia.
M. Pergande, S. Motameny, Ö. Özdemir, M. Kreutzer, H. Wang, H. S. Daimagüler, K. Becker, M. Karakaya, H. Ehrhardt, N. Elcioglu, et al.
Genetics in medicine : official journal of the American College of Medical Genetics. March 2020

An Animal Model Further Uncovers the Role of Mutant Braf during Papillary Thyroid Cancer Development.
B. Koelsch, S. Theurer, M. Staniszewska, J. Heupel, A. Koch, S. Mergener, F. Walk, C. Fischer, A. Kutritz, K. W. Schmid, et al.
The American Journal of Pathology. March 2020

Umstrukturierung der Risikoberechnung für die intensivierte Früherkennung im Deutschen Konsortium für Brust- und Eierstockkrebs.
A. S. Quante, C. Engel, M. Kiechle, R. K. Schmutzler, C. Fischer.
Gynäkologe. 28 February 2020

Disorders Caused by Genetic Mosaicism.
U. Moog, U. Felbor, C. Has, B. Zirn.
Deutsches Arzteblatt international. 21 February 2020

Heterogeneity of response to immune checkpoint blockade in hypermutated experimental gliomas.
K. Aslan, V. Turco, J. Blobner, J. K. Sonner, A. R. Liuzzi, N. G. Núñez, D. De Feo, P. Kickingereder, M. Fischer, E. Green, et al.
Nature communications. 18 February 2020

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
C. Engel, C. Fischer, S. Zachariae, K. Bucksch, K. Rhiem, J. Giesecke, N. Herold, B. Wappenschmidt, V. Hübbel, M. Maringa, et al.
International journal of cancer. 15 February 2020

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
C. A. Chen, R. Pal, J. Yin, H. Tao, A. Amawi, A. Sabo, M. N. Bainbridge, R. A. Gibbs, H. Y. Zoghbi, C. P. Schaaf.
Human molecular genetics. 1 February 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
B. V. Johnson, R. Kumar, S. Oishi, S. Alexander, M. Kasherman, M. S. Vega, A. Ivancevic, A. Gardner, D. Domingo, M. Corbett, et al.
Biological psychiatry. 15 January 2020

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
M. Bedin, O. Boyer, A. Servais, Y. Li, L. Villoing-Gaudé, M. J. Tête, A. Cambier, J. Hogan, V. Baudouin, S. Krid, et al.
The Journal of clinical investigation. 2 January 2020

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
L. Fachal, H. Aschard, J. Beesley, D. R. Barnes, J. Allen, S. Kar, K. A. Pooley, J. Dennis, K. Michailidou, C. Turman, et al.
Nature genetics. January 2020

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
D. Choukair, B. Eberle, P. Vick, P. Hermanns, B. Weiss, N. Paramasivam, M. Schlesner, K. Lornsen, R. Roeth, C. Klutmann, et al.
Hormone research in paediatrics. 2020

Supervised Exercise Training in Patients with Chronic Thromboembolic Pulmonary Hypertension as Early Follow-Up Treatment after Pulmonary Endarterectomy: A Prospective Cohort Study.
C. Nagel, M. Nasereddin, N. Benjamin, B. Egenlauf, S. Harutyunova, C. A. Eichstaedt, P. Xanthouli, E. Mayer, E. Grünig, S. Guth.
Respiration. 2020

Patients with Multiple Functional Gastrointestinal Disorders (FGIDs) Show Increased Illness Severity: A Cross-Sectional Study in a Tertiary Care FGID Specialty Clinic.
S. Berens, F. Engel, A. Gauss, J. Tesarz, W. Herzog, B. Niesler, E. Stroe-Kunold, R. Schaefert.
Gastroenterology research and practice. 2020

Genetische Diagnostik in der Gefäßmedizin.
P. Erhart, L. Gieldon, C. Grond-Ginsbach, D. Böckler.
Gefässchirurgie. 19 December 2019

Pädiatrie. Entwicklungsstörungen und Behinderungen.
U. Moog, R. Blank.
Springer. March 2019

Molecular Characterization of Embryonic Stem Cell-Derived Cardiac Neural Crest-Like Cells Revealed a Spatiotemporal Expression of an Mlc-3 Isoform.
S. Schmitteckert, C. Ziegler, G. A. Rappold, B. Niesler, A. Rolletschek.
IJSC. 30 March 2020

The genomic and clinical landscape of fetal akinesia.
M. Pergande, S. Motameny, Ö. Özdemir, M. Kreutzer, H. Wang, H. Daimagüler, K. Becker, M. Karakaya, H. Ehrhardt, N. Elcioglu, et al.
Genetics in Medicine. March 2020

Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
C. Thoeni, R. Waldherr, J. Scheuerer, S. Schmitteckert, R. Roeth, B. Niesler, E. Cutz, C. Flechtenmacher, B. Goeppert, P. Schirmacher, et al.
Canadian Journal of Gastroenterology and Hepatology. 10 December 2019

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
S. Gu, C. Chen, J. A. Rosenfeld, H. Cope, N. Launay, K. M. Flanigan, M. A. Waldrop, R. Schrader, J. Juusola, O. Goker‐Alpan, et al.
Human Mutation. 25 November 2019

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
V. L. Patel, E. L. Busch, T. M. Friebel, A. Cronin, G. Leslie, L. McGuffog, J. Adlard, S. Agata, B. A. Agnarsson, M. Ahmed, et al.
Cancer Res. 13 November 2019

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.
E. Crutcher, R. Pal, F. Naini, P. Zhang, M. Laugsch, J. Kim, A. Bajic, C. P. Schaaf.
Sci Rep. 4 November 2019

Mutations in ASH1L confer susceptibility to Tourette syndrome.
S. Liu, M. Tian, F. He, J. Li, H. Xie, W. Liu, Y. Zhang, R. Zhang, M. Yi, F. Che, et al.
Mol Psychiatry. 31 October 2019

Dietary tryptophan links encephalogenicity of autoreactive T cells with gut microbial ecology.
J. K. Sonner, M. Keil, M. Falk-Paulsen, N. Mishra, A. Rehman, M. Kramer, K. Deumelandt, J. Röwe, K. Sanghvi, L. Wolf, et al.
Nat Commun. 25 October 2019

Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/− mice.
H. Fröhlich, M. L. Kollmeyer, V. C. Linz, M. Stuhlinger, D. Groneberg, A. Reigl, E. Zizer, A. Friebe, B. Niesler, G. Rappold.
Proc Natl Acad Sci USA. 14 October 2019

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
C. Chen, W. Wang, S. E. Pedersen, A. Raman, M. L. Seymour, F. R. Ruiz, A. Xia, M. E. van der Heijden, L. Wang, J. Yin, et al.
Human Molecular Genetics. 10 October 2019

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex.
E. C. Ballinger, C. P. Schaaf, A. J. Patel, A. de Maio, H. Tao, D. A. Talmage, H. Y. Zoghbi, L. W. Role.
eNeuro. 27 September 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
M. T. Parsons, E. Tudini, H. Li, E. Hahnen, B. Wappenschmidt, L. Feliubadaló, C. M. Aalfs, S. Agata, K. Aittomäki, E. Alducci, et al.
Human Mutation. September 2019

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
I. Sepahi, U. Faust, M. Sturm, K. Bosse, M. Kehrer, T. Heinrich, K. Grundman-Hauser, P. Bauer, S. Ossowski, H. Susak, et al.
BMC Cancer. 8 August 2019

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
M. D. Fountain, D. S. Oleson, M. E. Rech, L. Segebrecht, J. V. Hunter, J. M. McCarthy, P. J. Lupo, M. Holtgrewe, R. Moran, J. A. Rosenfeld, et al.
Genetics in Medicine. August 2019

Correlation of NRF2 and progesterone receptor and its effects on ovarian cancer biology.
B. Czogalla, M. Kahaly, D. Mayr, E. Schmoeckel, B. Niesler, A. Hester, C. Zeder-Göß, T. Kolben, A. Burges, S. Mahner, et al.
CMAR. August 2019

Abnormalities of mucosal serotonin metabolism and 5-HT3receptor subunit 3C polymorphism in irritable bowel syndrome with diarrhoea predict responsiveness to ondansetron.
D. Gunn, K. Garsed, C. Lam, G. Singh, M. Lingaya, V. Wahl, B. Niesler, A. Henry, I. P. Hall, P. Whorwell, et al.
Aliment Pharmacol Ther. 24 July 2019

Keratinocytes costimulate naive human T cells via CD2: a potential target to prevent the development of proinflammatory Th1 cells in the skin.
C. Orlik, D. Deibel, J. Küblbeck, E. Balta, S. Ganskih, J. Habicht, B. Niesler, J. Schröder-Braunstein, K. Schäkel, G. Wabnitz, et al.
Cell Mol Immunol. 19 July 2019

Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
S. Hoffmann, C. Paone, S. A. Sumer, S. Diebold, B. Weiss, R. Roeth, S. Clauss, I. Klier, S. Kääb, A. Schulz, et al.
Front. Genet.. 11 July 2019

Postnatal human enteric neurospheres show a remarkable molecular complexity.
S. Schmitteckert, T. Mederer, R. Röth, P. Günther, S. Holland‐Cunz, M. Metzger, Y. Samstag, J. Schröder‐Braunstein, G. Wabnitz, S. Kurzhals, et al.
Neurogastroenterology & Motility. 18 July 2019

Co-occurring defect analysis: A platform for analyzing birth defect co‐occurrence in registries.
R. H. Benjamin, X. Yu, M. L. Navarro Sanchez, H. Chen, L. E. Mitchell, P. H. Langlois, M. A. Canfield, M. D. Swartz, A. E. Scheuerle, D. A. Scott, et al.
Birth Defects Research. 16 July 2019

Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients.
M. Lerche, C. A. Eichstaedt, K. Hinderhofer, E. Grünig, K. Tausche, T. Ziemssen, M. Halank, H. Wirtz, H. Seyfarth.
Pulm Circ. July 2019

Reanalysis of Clinical Exome Sequencing Data.
P. Liu, L. Meng, E. A. Normand, F. Xia, X. Song, A. Ghazi, J. Rosenfeld, P. L. Magoulas, A. Braxton, P. Ward, et al.
N Engl J Med. 20 June 2019

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
F. Erger, C. P. Schaaf, C. Netzer.
Molecular and Cellular Probes. June 2019

Hypoxic Environment Promotes Barrier Formation in Human Intestinal Epithelial Cells through Regulation of MicroRNA 320a Expression.
S. Muenchau, R. Deutsch, I. J. de Castro, T. Hielscher, N. Heber, B. Niesler, M. Lusic, M. L. Stanifer, S. Boulant.
Mol Cell Biol. 6 May 2019

X-linked myotubular myopathy and recurrent spontaneous pneumothorax.
P. Carstens, E. M. C. Schwaibold, K. Schregel, C. D. Obermaier, A. Wrede, S. Zechel, S. Pauli, J. Schmidt.
Neurol Genet. 26 April 2019

Aberrant brain structural large‐scale connectome in Crohn’s disease.
A. K. Thomann, W. Reindl, T. Wüstenberg, D. Kmuche, M. P. Ebert, K. Szabo, R. C. Wolf, D. Hirjak, B. Niesler, M. Griebe, et al.
Neurogastroenterology & Motility. 14 April 2019

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
B. Yuan, J. Neira, D. Pehlivan, T. Santiago-Sim, X. Song, J. Rosenfeld, J. E. Posey, V. Patel, W. Jin, M. P. Adam, et al.
Genetics in Medicine. March 2019

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
K. Klaschik, J. Hauke, G. Neidhardt, C. Tränkle, H. M. Surowy, S. Heilmann‐Heimbach, G. Rappl, E. Mangold, N. Arnold, D. Niederacher, et al.
Int. J. Cancer. 6 January 2019

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
R. P. Goin-Kochel, F. Scaglia, C. P. Schaaf, L. N. Berry, D. Dang, K. P. Nowel, A. L. Laakman, L. R. Dowell, C. G. Minard, A. Loh, et al.
Global Pediatric Health. January 2019

Magel2 Modulates Bone Remodeling and Mass in Prader‐Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
S. Baraghithy, R. Smoum, A. Drori, R. Hadar, A. Gammal, S. Hirsch, M. Attar‐Namdar, A. Nemirovski, Y. Gabet, Y. Langer, et al.
J Bone Miner Res. 22 October 2018

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
F. Qian, S. Wang, J. Mitchell, L. McGuffog, D. Barrowdale, G. Leslie, J. C. Oosterwijk, W. K. Chung, D. G. Evans, C. Engel, et al.
JNCI. 12 October 2018

Indikationsstellung zur prophylaktischen Mastektomie.
S. Oral, E. Katagis, N. Rippinger, J. Nees, J. Heil, C. Sutter, N. Dikow, I. Maatouk, S. Schott.
Gynäkologische Praxis. 2019

Interaction of ERα and NRF2 Impacts Survival in Ovarian Cancer Patients.
B. Czogalla, M. Kahaly, D. Mayr, E. Schmoeckel, B. Niesler, T. Kolben, A. Burges, S. Mahner, U. Jeschke, F. Trillsch.
IJMS. 29 December 2018

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
U. Moog, W. B. Dobyns.
Am J Med Genet. December 2018

Right ventricular size and function under riociguat in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension (the RIVER study).
A. M. Marra, M. Halank, N. Benjamin, E. Bossone, A. Cittadini, C. A. Eichstaedt, B. Egenlauf, S. Harutyunova, C. Fischer, H. Gall, et al.
Respir Res. December 2018

Pathobiology, pathology and genetics of pulmonary hypertension: Update from the Cologne Consensus Conference 2018.
A. Olschewski, E. M. Berghausen, C. A. Eichstaedt, B. K. Fleischmann, E. Grünig, G. Grünig, G. Hansmann, L. Harbaum, J. K. Hennigs, D. Jonigk, et al.
International Journal of Cardiology. December 2018

Sulforaphane Inhibits Inflammatory Responses of Primary Human T-Cells by Increasing ROS and Depleting Glutathione.
J. Liang, B. Jahraus, E. Balta, J. D. Ziegler, K. Hübner, N. Blank, B. Niesler, G. H. Wabnitz, Y. Samstag.
Front. Immunol.. 14 November 2018

Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.
M. Ratnaparkhe, J. K. L. Wong, P. Wei, M. Hlevnjak, T. Kolb, M. Simovic, D. Haag, Y. Paul, F. Devens, P. Northcott, et al.
Nat Commun. 12 November 2018

Right heart size and function significantly correlate in patients with pulmonary arterial hypertension – a cross-sectional study.
L. Fischer, N. Benjamin, N. Blank, B. Egenlauf, C. Fischer, S. Harutyunova, M. Koegler, H. Lorenz, A. M. Marra, C. Nagel, et al.
Respir Res. 8 November 2018

Sex Hormones Regulate SHANK Expression.
S. Berkel, A. Eltokhi, H. Fröhlich, D. Porras-Gonzalez, R. Rafiullah, R. Sprengel, G. A. Rappold.
Front. Mol. Neurosci.. 25 September 2018

Topokaryotyping demonstrates single cell variability and stress dependent variations in nuclear envelope associated domains.
A. Jurisic, C. Robin, P. Tarlykov, L. Siggens, B. Schoell, A. Jauch, K. Ekwall, C. S. Sørensen, M. Lipinski, M. Shoaib, et al.
Nucleic Acids Research. 12 September 2018

Funding for gastrointestinal disease research in the European Union.
H. Törnblom, M. Simrén, G. Barbara, B. Niesler.
The Lancet Gastroenterology & Hepatology. September 2018

CD38 as Immunotherapeutic Target in Light Chain Amyloidosis and Multiple Myeloma—Association With Molecular Entities, Risk, Survival, and Mechanisms of Upfront Resistance.
A. Seckinger, J. Hillengass, M. Emde, S. Beck, C. Kimmich, T. Dittrich, M. Hundemer, A. Jauch, U. Hegenbart, M. Raab, et al.
Front. Immunol.. 20 July 2018

Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants.
A. Eltokhi, G. Rappold, R. Sprengel.
Front. Mol. Neurosci.. 19 July 2018

Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation.
G. Domschke, F. Linden, L. Pawig, A. Hafner, M. Akhavanpoor, J. Reymann, A. O. Doesch, C. Erbel, C. Weber, H. A. Katus, et al.
Sci Rep. 12 July 2018

Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making — A Selected Case Series.
H. Bächli, J. Ecker, C. van Tilburg, D. Sturm, F. Selt, F. Sahm, C. Koelsche, K. Grund, C. Sutter, T. Pietsch, et al.
Klin Padiatr. 11 July 2018

Cytogenetic abnormalities in monoclonal gammopathy of undetermined significance.
M. Merz, T. Hielscher, K. Hoffmann, A. Seckinger, D. Hose, M. S. Raab, J. Hillengass, A. Jauch, H. Goldschmidt.
Leukemia. 6 July 2018

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
F. Simm, A. Griesbeck, D. Choukair, B. Weiß, N. Paramasivam, J. Klammt, M. Schlesner, S. Wiemann, C. Martinez, G. F. Hoffmann, et al.
Genetics in Medicine. July 2018

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
F. Erger, K. Burau, M. Elsässer, K. Zimmermann, U. Moog, C. Netzer.
Eur J Hum Genet. 11 June 2018

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
S. M. Waszak, P. A. Northcott, I. Buchhalter, G. W. Robinson, C. Sutter, S. Groebner, K. B. Grund, L. Brugières, D. T. W. Jones, K. W. Pajtler, et al.
The Lancet Oncology. June 2018

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.
A. Montalbano, L. Juergensen, M. Fukami, C. T. Thiel, N. H. Hauer, R. Roeth, B. Weiss, Y. Naiki, T. Ogata, D. Hassel, et al.
Eur J Hum Genet. 30 April 2018

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients.
J. Böck, S. Appenzeller, L. Haertle, T. Schneider, A. Gehrig, J. Schröder, S. Rost, B. Wolf, C. R. Bartram, C. Sutter, et al.
Int. J. Cancer. 25 April 2018

IKZF1plus Defines a New Minimal Residual Disease–Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.
M. Stanulla, E. Dagdan, M. Zaliova, A. Möricke, C. Palmi, G. Cazzaniga, C. Eckert, G. te Kronnie, J. Bourquin, B. Bornhauser, et al.
JCO. 20 April 2018

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.
A. de Sena Cortabitarte, S. Berkel, F. Cristian, C. Fischer, G. A. Rappold.
J Neurodevelop Disord. 17 April 2018

Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
J. Vijayakrishnan, J. Studd, P. Broderick, B. Kinnersley, A. Holroyd, P. J. Law, R. Kumar, J. M. Allan, C. J. Harrison, et al.
Nat Commun. 9 April 2018

Incidence of pulmonary hypertension and determining factors in patients with systemic sclerosis.
J. G. Coghlan, M. Wolf, O. Distler, C. P. Denton, M. Doelberg, S. Harutyunova, A. M. Marra, N. Benjamin, C. Fischer, E. Grünig.
Eur Respir J. 21 March 2018

Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations.
T. R. Rebbeck, T. M. Friebel, E. Friedman, U. Hamann, D. Huo, A. Kwong, E. Olah, O. I. Olopade, A. R. Solano, S. Teo, et al.
Human Mutation. 12 March 2018

Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
J. Hauke, J. Horvath, E. Groß, A. Gehrig, E. Honisch, K. Hackmann, G. Schmidt, N. Arnold, U. Faust, C. Sutter, et al.
Cancer Med. 9 March 2018

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.
I. Ojeda Naharros, F. B. Cristian, J. Zang, M. Gesemann, P. W. Ingham, S. C. F. Neuhauss, R. Bachmann-Gagescu.
Sci Rep. 2 February 2018

Pilot-RCT of an integrative group therapy for patients with refractory irritable bowel syndrome (ISRCTN02977330).
S. Berens, E. Stroe-Kunold, F. Kraus, J. Tesarz, A. Gauss, B. Niesler, W. Herzog, R. Schaefert.
Journal of Psychosomatic Research. February 2018

Cytogenetic aberrations in multiple myeloma are associated with shifts in serum immunoglobulin isotypes distribution and levels.
P. Yadav, M. Merz, E. K. Mai, A. Försti, A. Jauch, H. Goldschmidt, K. Hemminki.
Haematologica. 1 February 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
V. A. Gennarino, E. E. Palmer, L. M. McDonell, L. Wang, C. J. Adamski, A. Koire, L. See, C. Chen, C. P. Schaaf, J. A. Rosenfeld, et al.
Cell. February 2018

Reduced-Intensity Delayed Intensification in Standard-Risk Pediatric Acute Lymphoblastic Leukemia Defined by Undetectable Minimal Residual Disease: Results of an International Randomized Trial (AIEOP-BFM ALL 2000).
M. Schrappe, K. Bleckmann, M. Zimmermann, A. Biondi, A. Möricke, F. Locatelli, G. Cario, C. Rizzari, A. Attarbaschi, M. G. Valsecchi, et al.
JCO. 20 January 2018

Right Ventricular Index for Risk Stratification of Patients with Pulmonary Arterial Hypertension.
C. Sinning, L. Harbaum, B. Schrage, N. Rübsamen, C. Magnussen, B. Waschki, W. Kleemann, K. Baaske, M. Kögler, F. Ojeda, et al.
Respiration. 2018

Drug-perturbation-based stratification of blood cancer.
S. Dietrich, M. Oleś, J. Lu, L. Sellner, S. Anders, B. Velten, B. Wu, J. Hüllein, M. da Silva Liberio, T. Walther, et al.
J Clin Invest. 11 December 2017

Site-specific gene expression analysis from archived human intestine samples combining laser-capture microdissection and multiplexed color-coded probes.
A. Braun, C. Martinez, S. Schmitteckert, R. Röth, F. Lasitschka, B. Niesler.
Neurogastroenterol Motil. 28 November 2017

CD40L controls obesity-associated vascular inflammation, oxidative stress, and endothelial dysfunction in high fat diet-treated and db/db mice.
S. Steven, M. Dib, M. Hausding, F. Kashani, M. Oelze, S. Kröller-Schön, A. Hanf, S. Daub, S. Roohani, Y. Gramlich, et al.
Cardiovascular Research. 26 September 2017

Bortezomib before and after high-dose therapy in myeloma: long-term results from the phase III HOVON-65/GMMG-HD4 trial.
H. Goldschmidt, H. M. Lokhorst, E. K. Mai, B. van der Holt, I. W. Blau, S. Zweegman, K. C. Weisel, E. Vellenga, M. Pfreundschuh, M. J. Kersten, et al.
Leukemia. 4 July 2017