Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2017

Publikationen 2017

1.       Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM, Jr., Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a journal of neurology 2017;140(10):2610-22.

2.       Berens S, Kraus F, Gauss A, Tesarz J, Herzog W, Niesler B, Stroe-Kunold E, Schaefert R. A Specialty Clinic for Functional Gastrointestinal Disorders in Tertiary Care: Concept and Patient Population. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2017;15(7):1127-29.

3.       Bochtler T, Granzow M, Stolzel F, Kunz C, Mohr B, Kartal-Kaess M, Hinderhofer K, Heilig CE, Kramer M, Thiede C, Endris V, Kirchner M, Stenzinger A, Benner A, Bornhauser M, Ehninger G, Ho AD, Jauch A, Kramer A, Study Alliance Leukemia I. Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia. Blood 2017;129(10):1333-42.

4.       Celli J, Rappold G, Niesler B. The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database. Human mutation 2017;38(2):137-47.

5.       de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nothen MM, Rappold GA, Berkel S. Investigation of SHANK3 in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017.

6.       Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. American journal of medical genetics. Part A 2017;173(5):1369-73.

7.       Eichstaedt CA, Song J, Viales RR, Pan Z, Benjamin N, Fischer C, Hoeper MM, Ulrich S, Hinderhofer K, Grunig E. First identification of Kruppel-like factor 2 mutation in heritable pulmonary arterial hypertension. Clinical science 2017;131(8):689-98.

8.        Evers C, Fischer C, Dikow N, Schott S. Familial breast cancer: Genetic counseling over time, including patients expectations and initiators considering the Angelina Jolie effect. PloS one 2017;12(5):e0177893.

9.       Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. American journal of medical genetics. Part A 2017.

10.     Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kolker S, Bartram CR, Hoffmann GF, Moog U. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Molecular genetics and metabolism 2017;121(4):297-307.

11.    Frohlich H, Rafiullah R, Schmitt N, Abele S, Rappold GA. Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization. Human molecular genetics 2017;26(8):1511-21.

12.    Goehringer C, Sutter C, Kloor M, Gebert J, Slater EP, Keller M, Treiber I, Ganschow P, Kadmon M, Moog U. Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor. Familial cancer 2017;16(2):303-09.

13.     Granzow M, Hegenbart U, Hinderhofer K, Hose D, Seckinger A, Bochtler T, Hemminki K, Goldschmidt H, Schonland SO, Jauch A. Novel recurrent chromosomal aberrations detected in clonal plasma cells of light chain amyloidosis patients show potential adverse prognostic effect: first results from a genome-wide copy number array analysis. Haematologica 2017.

14.     Grunig E, Ohnesorge J, Benjamin N, Burhenne J, Enderle Y, Egenlauf B, Fischer C, Harutyunova S, Huppertz A, Klose H, Haefeli WE. Plasma Drug Concentrations in Patients with Pulmonary Arterial Hypertension on Combination Treatment. Respiration; international review of thoracic diseases 2017;94(1):26-37.

15.     Hinderhofer K, Mechler K, Hoffmann GF, Lampert A, Mountford WK, Ries M. Critical appraisal of genotype assessment in molybdenum cofactor deficiency. Journal of inherited metabolic disease 2017;40(6):801-11.

16.      Hoffmann S, Schmitteckert S, Griesbeck A, Preiss H, Sumer S, Rolletschek A, Granzow M, Eckstein V, Niesler B, Rappold GA. Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells. Stem cell research 2017;21:51-57.

17.     Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers L, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases N, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Gem H, Deciphering Developmental Disorders S, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American journal of human genetics 2017;101(5):768-88.

18.     Lorch C, Novak J, Banerjee R, Weimer S, Dieterle J, Frank C, Hinderhofer A, Gerlach A, Carla F, Schreiber F. Influence of C60 co-deposition on the growth kinetics of diindenoperylene-From rapid roughening to layer-by-layer growth in blended organic films. The Journal of chemical physics 2017;146(5):052807.

19.     Lorenzo Bermejo J, Boekstegers F, Gonzalez Silos R, Marcelain K, Baez Benavides P, Barahona Ponce C, Muller B, Ferreccio C, Koshiol J, Fischer C, Peil B, Sinsheimer J, Fuentes Guajardo M, Barajas O, Gonzalez-Jose R, Bedoya G, Catira Bortolini M, Canizales-Quinteros S, Gallo C, Ruiz Linares A, Rothhammer F. Subtypes of Native American ancestry and leading causes of death: Mapuche ancestry-specific associations with gallbladder cancer risk in Chile. PLoS genetics 2017;13(5):e1006756.

20.     Martinez C, Rodino-Janeiro BK, Lobo B, Stanifer ML, Klaus B, Granzow M, Gonzalez-Castro AM, Salvo-Romero E, Alonso-Cotoner C, Pigrau M, Roeth R, Rappold G, Huber W, Gonzalez-Silos R, Lorenzo J, de Torres I, Azpiroz F, Boulant S, Vicario M, Niesler B, Santos J. miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea. Gut 2017;66(9):1537-38.

21.     Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindstrom S, Hui S, Lemacon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM, Investigators A, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomaki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems M, Azzollini J, Bacot F, Balmana J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Bruning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldes T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dork T, Dos-Santos-Silva I, Dubois S, Dugue PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH, Embrace, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, Garcia-Saenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A, Collaborators GS, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Goodfellow P, Greene MH, Alnaes GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guenel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Hakansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS, Hebon, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K, kConFab AI, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Laenkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menendez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL, Collaborators N, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkas K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schurmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengstrom M, Teo SH, Terry MB, Tessier DC, Teule A, Thone K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar R, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, Garcia-Closas M, Schmidt MK, Antoniou AC, Simard J. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature genetics 2017.

22.     Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Jr., Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, group As, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmana J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg A, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dork T, Dossus L, Duran M, Durst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M, Study E, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, Garcia MJ, Garcia-Barberan V, Gehrig A, Collaborators GS, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Hakansson N, Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J, Study H, Hein A, Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Hogdall CK, Hogdall E, Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K, Investigators KC, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim SW, Kjaer SK, Kobel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larranaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubinnski J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandino G, Manoukian S, Massuger L, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley DM, Ong KR, Onland-Moret NC, group Os, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodriguez-Antona C, Romm J, Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP, Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE, Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ, Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH, Terry KL, Thompson PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE, Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR, Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ, Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah PDP. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature genetics 2017;49(5):680-91.

23.     Rehnitz J, Alcoba DD, Brum IS, Hinderhofer K, Youness B, Strowitzki T, Vogt PH. FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells. Reproductive biomedicine online 2017;35(5):485-93.

24.     Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Glaser D, Joset P, Study DDD, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wodl S, Kohlhase J, Reis A, Zweier C. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of medical genetics 2017;54(1):64-72.

25.     Schorling DC, Dietel T, Evers C, Hinderhofer K, Korinthenberg R, Ezzo D, Bonnemann CG, Kirschner J. Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature. Neuropediatrics 2017;48(5):371-77.

26.     Steven S, Dib M, Hausding M, Kashani F, Oelze M, Kroller-Schon S, Hanf A, Daub S, Roohani S, Gramlich Y, Lutgens E, Schulz E, Becker C, Lackner KJ, Kleinert H, Knosalla C, Niesler B, Wild PS, Munzel T, Daiber A. CD40L controls obesity-associated vascular inflammation, oxidative stress and endothelial dysfunction in mice - translational aspects for man. Cardiovascular research 2017.

27.     Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wust T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W. Trichothiodystrophy causative TFIIEbeta mutation affects transcription in highly differentiated tissue. Human molecular genetics 2017.

28.     Toberer F, Happle R, Schneiderbauer R, Hausser I, Krohl V, Epple A, Moog U, Enk AH, Lonsdorf AS. At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series. Journal of the European Academy of Dermatology and Venereology : JEADV 2017.

29.     Wohlfarth C, Schmitteckert S, Hartle JD, Houghton LA, Dweep H, Fortea M, Assadi G, Braun A, Mederer T, Pohner S, Becker PP, Fischer C, Granzow M, Monnikes H, Mayer EA, Sayuk G, Boeckxstaens G, Wouters MM, Simren M, Lindberg G, Ohlsson B, Schmidt PT, Dlugosz A, Agreus L, Andreasson A, D'Amato M, Burwinkel B, Bermejo JL, Roth R, Lasitschka F, Vicario M, Metzger M, Santos J, Rappold GA, Martinez C, Niesler B. miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome. Scientific reports 2017;7(1):14680.

30.     Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gerard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hortnagel K, Docker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Bruckner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Oiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krageloh-Mann I, Helbig I, Kluger G, Lerche H, Moller RS. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain : a journal of neurology 2017;140(5):1316-36.

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