Research Publications


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

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

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

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

Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ
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. 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

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. M. Lakeman, A. J. van den Broek, J. A. M. Vos, D. R. Barnes, J. Adlard, I. L. Andrulis, A. Arason, N. Arnold, B. K. Arun, J. Balmaña, et al.
Genet Med. 10 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

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

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

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. 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

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

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.
Genet Med. 8 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

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

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

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

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

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

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, I. L. Andrulis, A. Arason, N. Arnold, B. Auber, J. Azzollini, J. Balmaña, R. B. Barkardottir, D. Barrowdale, J. Barwell, M. Belotti, et al.
JNCI: Jnl of National Cancer Institute. 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

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

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

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

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

Publications of past Years:

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. July 2021

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder.
B. Niesler, G. A. Rappold.
Molecular psychiatry. 27 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

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

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

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

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

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

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

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

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

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

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

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

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. 5 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

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

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

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

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. 28 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

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

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.
Cellular & molecular immunology. 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

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

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

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.
International journal of stem cells. 30 March 2020

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
C. A. 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. 27 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. 17 March 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

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

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

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
S. Gu, C. A. 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. 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

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 research. February 2020

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.
Molecular psychiatry. 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

1.      Lerche M, Eichstaedt CA, Hinderhofer K, Grünig E, Tausche K, Ziemssen T, Halank M, Seyfarth HJ Mutually reinforcing effects of genetic variants and interferon β-1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients. Pulmonary Circulation. In Press (2019).

2.      Schmitteckert S, Ziegler C, Rappold GA, Niesler B*, Rolletschek A Molecular characterization of embryonic stem cell-derived cardiac neural crest-like cell International Journal of Stem Cells (2019) in press.

3.      Thoeni C, Waldherr R, Scheuerer J, Schmitteckert S, Roeth R, Niesler B, Flechtenmacher C, Goeppert B, Schirmacher P, Lasitschka F Altered Expression of ATP-binding cassette transporters ABCB11 and ABCB4 in primary sclerosing cholangitis Canadian Journal of Gastroenterology and Hepatology (2019) in press.

4.      Per-Ole Carstens, Eva Schwaibold, Katharina Schregel, Carolin Obermaier, Arne Wrede, Sabrina Zechel, Silke Pauli, and Jens Schmidt Recurrent spontaneous pneumothorax in X-linked myotubular myopathy: a new phenotype? Neurology: Genetics (2019) 5(3):e327 doi:10.1212/NXG.0000000000000327.

5.      Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity J Bone Miner Res (2019) 34(1):93-105 doi:10.1002/jbmr.3591.

6.      Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study Glob Pediatr Health (2019) 6:2333794X19830696 doi:10.1177/2333794X19830696.

7.      Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Genet Med (2019) 21(3):663-675 doi:10.1038/s41436-018-0085-6.

8.      Thomann AK, Reindl W, Wüstenberg T, Kmuche D, Ebert MP, Szabo K, Wolf RC, Hirjak D, Niesler B, Griebe M, Thomann PA Aberrant brain structural large-scale connectome in Crohn’s disease Neurogastroenterology and Motility (2019) 31(6):e13593 doi:10.1111/nmo.13593.

9.      Muenchau S, Deutsch R, Hielscher T, Heber N, Niesler B, Stanifer ML, Boulant S Hypoxic environment promotes barrier formation in human intestinal epithelial cells through regulation of miR-320a expression Molecular and Cellular Biology (2019) 39(14). pii: e00553-18 doi:10.1128/MCB.00553-18.

10.      Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data N Engl J Med (2019) 380(25):2478-2480 doi:10.1056/NEJMc1812033.

11.      Erger F, Schaaf CP, Netzer C. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol Cell Probes (2019) 45:84-88 doi:10.1016/j.mcp.2019.03.006.

12.      Orlik C, Deibel D, Küblbeck J, Balta E, Ganskih S, Habicht J, Niesler B, Schröder-Braunstein J, Schäkel K, Wabnitz G and Samstag Y Keratinocytes costimulate naive human T cells via CD2: a potential target to prevent the development of proinflammatory Th1 cells in the skin Cell Mol Immunol (2019) doi:10.1038/s41423-019-0261-x.

13.      Czogalla B, Kahaly M, Mayr D, Schmoeckel E, Niesler B, Hester A, Zeder-Göß C, Kolben T, Burges A, Mahner S, Jeschke U, Trillsch F. Correlation of NRF2 and progesterone receptor and its effects on ovarian cancer biology Cancer management and research (2019) 11:7673-7684 doi:10.2147/CMAR.S210004.

14.      Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Genet Med (2019) 21(8):1797-1807 doi:10.1038/s41436-019-0433-1.

15.      Gunn D, Garsed K, Lam C, Singh G, Lingaya M, Wahl V, Niesler B, Henry A, Hall I, Whorwell P, Spiller R Abnormalities of mucosal serotonin metabolism in IBS with diarrhoea predict responsiveness to Ondansetron, a 5-HT3 receptor antagonist Alimentary Pharmacology and Therapeutics (2019) 50(5):538-546 doi:10.1111/apt.15420.

16.      Fröhlich H, Kollmeyer ML, Linz V, Stuhlinger M, Groneberg D, Reigl A, Zizer E, Friebe A, Niesler B, Rappold, GA Gastrointestinal dysfunction in autism: altered motility and achalasia in Foxp1+/- mice Proc Natl Acad Sci USA (2019) 116(44):22237-22245 doi:10.1073/pnas.1911429116.

17.      Schmitteckert S, Mederer T, Roeth R, Guenther P., Holland-Cunz S, Metzger M, Samstag Y, Schröder-Braunstein J, Wabnitz G, Kurzhals S, Scheuerer J, Beretta CA, Lasitschka F, Rappold GA, Romero P, Niesler B Postnatal human enteric neurospheres show a remarkable molecular complexity Neurogastroenterology and Motility (2019) 31(10):e13674 doi:10.1111/nmo.13674.

18.      Sonner JK, Keil M, Falk-Paulsen M, Mishra N, Rehman A, Kramer M, Deumelandt K, Röwe J, Sanghvi K, Wolf L, von Landenberg A, Wolff H, Bharti R, Oezen I, Lanz TV, Wanke F, Tang Y, Brandao I, Mohapatra SR, Epping L, Grill A, Röth R, Niesler B, Meuth SG, Opitz CA, Okun JG, Reinhardt C, Kurschus FC, Wick W, Bode HB, Rosenstiel P, Platten M. Dietary tryptophan links encephalogenicity of autoreactive T cells with gut 1 microbial ecology Nature Communication (2019) 10(1):4877 doi:10.1038/s41467-019-12776-4.

19.      Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry (2019) 25(2):476-490 doi:10.1038/s41380-019-0560-8.

20.      Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity Hum Mol Genet. (2019) pii: ddz233 doi:10.1093/hmg/ddz233.

21.      Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. The Genomic and Clinical Landscape of Fetal Akinesia Genet Med (2019) doi:10.1038/s41436-019-0680-1.

22.      Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. (2019) 41(3):632-640 doi:10.1002/humu.23950.

23.      Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. Sci Rep. (2019) 9(1):15935 doi:10.1038/s41598-019-52287-2.

24.      Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro (2019) 6(6) doi:10.1523/ENEURO.0134-19.2019.

25.      Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Res. (2019) 111(18):1356-1364 doi:10.1002/bdr2.1549.

1.      Bächli H, Ecker J, van Tilburg C, Sturm D, Selt F, Sahm F, Koelsche C, Grund K, Sutter C, Pietsch T, Witt H, Herold-Mende C, von Deimling A, Jones D, Pfister S, Witt O, Milde T Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series KLIN PADIATR 2018;230:305-9.

2.      Berens S, Stroe-Kunold E, Kraus F, Tesarz J, Gauss A, Niesler B, Herzog W, Schaefert R Pilot-RCT of an integrative group therapy for patients with refractory irritable bowel syndrome (ISRCTN02977330) J PSYCHOSOM RES 2018;105:72-8.

3.      Berkel S, Elthoki A, Fröhlich H, Porras González D, Rafiullah R, Sprengel R, Rappold G Sex Hormones Regulate SHANK Expression FRONT MOL NEUROSCI 2018;11:1-10.

4.      Böck J, Appenzeller S, Haertle L, Schneider T, Gehrig A, Schröder J, Rost S, Wolf B, Bartram C, Sutter C, Haaf T 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 INT J CANCER 2018;143:1416-10.

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6.      Coghlan J, Wolf M, Distler O, Denton C, Doelberg M, Harutyunova S, Marra A, Benjamin N, Fischer C, Gruenig E Incidence of pulmonary hypertension and determining factors in patients with systemic sclerosis EUR RESPIR J 2018;51:1-11.

7.      Czogalla B, Kahaly M, Mayr D, Schmoeckel E, Niesler B, Kolben T, Burges A, Mahner S, Jeschke U, Trillsch F Interaction of ER alpha and NRF2 Impacts Survival in Ovarian Cancer Patients INT J MOL SCI 2018;20:1-13.

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9.      Dietrich S, Oleś M, Lu J, Sellner L, Anders S, Velten B, Wu B, Huellein J, da Silva Liberio M, Walther T, Wagner L, Rabe S, Ghidelli-Disse S, Bantscheff M, Oleś A, Słabicki M, Mock A, Oakes C, Wang S, Oppermann S, Lukas M, Kim V, Sill M, Benner A, Jauch A, Sutton L, Young E, Rosenquist R, Liu X, Jethwa A, Lee K, Lewis J, Putzker K, Lutz C, Rossi D, Mokhir A, Oellerich T, Zirlik K, Herling M, Nguyen-Khac F, Plass C, Andersson E, Mustjoki S, von Kalle C, Ho A, Hensel M, Duerig J, Ringshausen I, Zapatka M, Huber W, Zenz T Drug-perturbation-based stratification of blood cancer J CLIN INVEST 2018;128:427-19.

10.      Domschke G, Linden F, Pawig L, Hafner A, Akhavanpoor M, Reymann J, Doesch A, Erbel C, Weber C, Katus H, Noels H, Erfle H, Gleissner C, Runz H Systematic RNA-interference in primary human monocyte-derived macrophages: a high-throughput platform to study foam cell formation SCI REP-UK 2018;8:1-11.

11.      Eltokhi A, Rappold G, Sprengel R Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients with SHANK2 variants FRONT MOL NEUROSCI 2018;11:1-15.

12.      Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C Uniparental isodisomy as a cause of recessive Mendelian disease: A diagnostic pitfall with a quick and easy solution in medium/large-scale NGS-based analyses EUR J HUM GENET 2018;26:1392-4.

13.      Fischer L, Benjamin N, Blank N, Egenlauf B, Fischer C, Harutyunova S, Koegler M, Lorenz H, Marra A, Nagel C, Xanthouli P, Bossone E, Gruenig E Right heart size and function significantly correlate in patients with pulmonary arterial hypertension - a cross-sectional study RESP RES 2018;19:1-13.

14.      Gennarino V, Palmer E, McDonell L, Wang L, Adamski C, Koire A, See L, Chen C, Schaaf C, Rosenfeld J, Panzer J, Moog U, Hao S, Bye A, Kirk E, Stankiewicz P, Breman A, McBride A, Kandula T, Dubbs H, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias K, Cho M, Henderson L, Baskin B, Morris P, Tao J, Cowley M, Dinger M, Roscioli T, Caluseriu O, Suchowersky O, Sachdev R, Lichtarge O, Tang J, Boycott K, Holder JL J, Zoghbi H A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures CELL 2018;172:924-13.

15.      Goldschmidt H, Lokhorst H, Mai E, van der Holt B, Blau I, Zweegman S, Weisel K, Vellenga E, Pfreundschuh M, Kersten M, Scheid C, Croockewit S, Raymakers R, Hose D, Potamianou A, Jauch A, Hillengass J, Stevens-Kroef M, Raab M, Broijl A, Lindemann H, Bos G, Brossart P, van Marwijk Kooy M, Ypma P, Duehrsen U, Schaafsma R, Bertsch U, Hielscher T, Jarari L, Salwender H, Sonneveld P Bortezomib before and after high-dose therapy in myeloma: long-term results from the phase III HOVON-65/GMMG-HD4 trial LEUKEMIA 2018;32:383-8.

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18.      Liang J, Jahraus B, Balta E, Ziegler J, Huebner K, Blank N, Niesler B, Wabnitz G, Samstag Y Sulforaphane Inhibits Inflammatory Responses of Primary Human T-Cells by Increasing ROS and Depleting Glutathione Front Immunol 2018;9:1-17.

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21.      Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold G Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature EUR J HUM GENET 2018;26:1113-8.

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27.      Schrappe M, Bleckmann K, Zimmermann M, Biondi A, Möricke A, Locatelli F, Cario G, Rizzari C, Attarbaschi A, Valsecchi M, Bartram C, Barisone E, Niggli F, Niemeyer C, Testi A, Mann G, Ziino O, Schäfer B, Panzer-Gruemayer R, Beier R, Parasole R, Göhring G, Ludwig W, Casale F, Schlegel PG Basso G, Conter V 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 J CLIN ONCOL 2018;36:244-10.

28.      Seckinger A, Hillengass J, Emde M, Beck S, Kimmich C, Dittrich T, Hundemer M, Jauch A, Hegenbart U, Raab M, Ho A, Schönland S, Hose D CD38 as Immunotherapeutic Target in Light Chain Amyloidosis and Multiple Myeloma-Association With Molecular Entities, Risk, Survival, and Mechanisms of Upfront Resistance. Front Immunol 2018;9:1-15.

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