2020

Ansar M, Ebstein F, Ozkoc H, Paracha SA, Iwaszkiewicz J, Gesemann M, Zoete V, Ranza E, Santoni FA, Sarwar MT, Ahmed J, Kruger E, Bachmann-Gagescu R, Antonarakis SE. Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Hum Mol Genet 2020;29(7):1132-43. Epub: 2020/03/05. PMID: 32129449.

Asadollahi H, Vakili M, Asadollahi R. Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country. J Community Genet 2020;11(3):367-75. Epub: 2020/03/01. PMID: 32112302.

Asadollahi R, Britschgi C, Joset P, Oneda B, Schindler D, Meier UR, Rauch A. Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene). Mol Genet Genomic Med 2020;8(10):e1409. Epub: 2020/08/05. PMID: 32748564.

Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Heon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Healthcare recommendations for Joubert syndrome. Am J Med Genet A 2020;182(1):229-49. Epub: 2019/11/12. PMID: 31710777.

Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denomme-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Ounap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med 2021;23(3):543-54. Epub: 2020/11/06. PMID: 33149277.

Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab 2020;105(5):1538-51. Epub: 2020/02/09. PMID: 32034419.

Jagannath V, Grunblatt E, Theodoridou A, Oneda B, Roth A, Gerstenberg M, Franscini M, Traber-Walker N, Correll CU, Heekeren K, Rossler W, Rauch A, Walitza S. Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways. Am J Med Genet B Neuropsychiatr Genet 2020;183(2):140-51. Epub: 2019/11/20. PMID: 31742845.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gronborg S, Mercier S, Kury S, Bezieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Desir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, Lopez-Otin C, Santiago-Fernandez O, Fernandez-Jaen A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, McDougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases N, Schoch K, Sullivan JA, Pinto EVF, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Jr., Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Perez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gecz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. Biol Psychiatry 2020;87(2):100-12. Epub: 2019/08/25. PMID: 31443933.

Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry 2020:Epub ahead of print. Epub: 2020/04/30. PMID: 32346159.

Lang E, Koller S, Atac D, Pfaffli OA, Hanson JVM, Feil S, Bahr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmol 2020:Epub ahead of print. Epub: 2020/10/01. PMID: 32996714.

Lang E, Koller S, Bahr L, Toteberg-Harms M, Atac D, Roulez F, Bahr A, Steindl K, Feil S, Berger W, Gerth-Kahlert C. Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Transl Vis Sci Technol 2020;9(7):47. Epub: 2020/08/25. PMID: 32832252.

Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel C, Stegmann APA, Beck-Wodl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis 2020;15(1):294. Epub: 2020/10/21. PMID: 33076953.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destree A, Garcia-Minaur S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribai P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. A clinical scoring system for congenital contractural arachnodactyly. Genet Med 2020;22(1):124-31. Epub: 2019/07/19. PMID: 31316167.

Nasser H, Vera L, Elmaleh-Berges M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Heron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. J Med Genet 2020;57(6):389-99. Epub: 2020/02/06. PMID: 32015000.

Oneda B, Sirleto P, Baldinger R, Taralczak M, Joset P, Zweier M, Niedrist D, Azzarello-Burri S, Britschgi C, Breymann C, Ochsenbein-Kolble N, Burkhardt T, Wisser J, Zimmermann R, Steindl K, Rauch A. Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing. Eur J Obstet Gynecol Reprod Biol 2020;252:19-29. Epub: 2020/07/04. PMID: 32619881.

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Koninger A, Iannaccone A, Hehr U, Kolbel H, Roos A, Schara-Schmidt U, Kuechler A. Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet J Rare Dis 2020;15(1):242. Epub: 2020/09/11. PMID: 32907597.

Schmiady M, Dave H, Ruschoff JH, Steindl K, Hubler M, Schweiger M. Single coronary artery arising from an atretic pulmonary trunk. Asian Cardiovasc Thorac Ann 2020:218492320963969. Epub: 2020/10/08. PMID: 33023303.

Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. Am J Hum Genet 2020;107(6):1044-61. Epub: 2020/11/08. PMID: 33159882.

Schwotzer R, Flammer AJ, Gerull S, Pabst T, Arosio P, Averaimo M, Bacher VU, Bode P, Cavalli A, Concoluci A, Dirnhofer S, Djerbi N, Dobner SW, Fehr T, Garofalo M, Gaspert A, Heimgartner R, Hubers A, Jung HH, Kessler C, Knopfel R, Laptseva N, Manka R, Mazzucchelli L, Meyer M, Mihaylova V, Monney P, Mylonas A, Nkoulou R, Pazhenkottil A, Pfister O, Rufer A, Schmidt A, Seeger H, Stampfli SF, Stirnimann G, Suter T, Theaudin M, Treglia G, Tzankov A, Vetter F, Zweier M, Gerber B. Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis. Swiss Med Wkly 2020;150:w20364. Epub: 2020/12/06. PMID: 33277911.

Tutschek B, Mayer K, Rauch A. Fetal tuberous sclerosis and diagnosis of paternal gonadal mosaicism. Ultrasound Obstet Gynecol 2020;55(5):691-2. Epub: 2019/10/07. PMID: 31587404.

Walchli R, Knopfel N, Steindl K, Kernland-Lang K, Theiler M, Weibel L. Periorbital pigmented skin tags and milia. Pediatr Dermatol 2020;37(4):740-1. Epub: 2020/07/25. PMID: 32706480.

Werling AM, Grunblatt E, Oneda B, Bobrowski E, Gundelfinger R, Taurines R, Romanos M, Rauch A, Walitza S. High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. J Neural Transm (Vienna) 2020;127(1):81-94. Epub: 2019/12/16. PMID: 31838600.

Wyvekens N, Valtcheva N, Mischo A, Helmchen B, Hermanns T, Choschzick M, Hotker AM, Rauch A, Muhleisen B, Akhoundova D, Weber A, Moch H, Rupp NJ. Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. Genes Chromosomes Cancer 2020;59(11):611-9. Epub: 2020/06/17. PMID: 32537760.

Zanoni P, von Eckardstein A. Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Curr Opin Lipidol 2020;31(2):62-70. Epub: 2020/02/06. PMID: 32022753.