2017

Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL. Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS One 2017;12(5):e0176363. Epub: 2017/05/04. PMID: 28463998.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenco C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 2017;13(3):e1006683. Epub: 2017/03/28. PMID: 28346496.

Asadollahi R*, Zweier M*, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet 2017;60(9):451-64. Epub: 2017/06/25. PMID: 28645799.

Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. Am J Med Genet A 2017;173(5):1237-42. Epub: 2017/04/04. PMID: 28371402.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers L, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet 2017;100(6):907-25. Epub: 2017/06/03. PMID: 28575647.

Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci 2017;58(10):3840-50. Epub: 2017/08/02. PMID: 28763557.

Grunblatt E*, Oneda B*, Ekici AB, Ball J, Geissler J, Uebe S, Romanos M, Rauch A, Walitza S. High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. BMC Med Genomics 2017;10(1):68. Epub: 2017/11/29. PMID: 29179725.

Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, University of Washington Center for Mendelian G, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet 2017;100(1):21-30. Epub: 2016/12/13. PMID: 27939641.

Hackenberg A, Boltshauser E, Gerth-Kahlert C, Stahr N, Azzarello-Burri S, Plecko B. Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations. Neuropediatrics 2017;48(1):57-8. Epub: 2016/12/27. PMID: 28024310.

Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojcakova D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS, Recessive HABCRG. UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology 2017;89(17):1821-8. Epub: 2017/09/22. PMID: 28931644.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gerard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivie H, Park SM, Rauch A, Revencu N, Riviere JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. J Med Genet 2017;54(7):479-88. Epub: 2017/01/26. PMID: 28119487.

Mateos JM, Barmettler G, Doehner J, Ojeda Naharros I, Guhl B, Neuhauss SCF, Kaech A, Bachmann-Gagescu R, Ziegler U. Correlative Super-resolution and Electron Microscopy to Resolve Protein Localization in Zebrafish Retina. J Vis Exp 2017(129). Epub: 2017/11/21. PMID: 29155784.

Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Ziegler U, Neuhauss SCF, Bachmann-Gagescu R. Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genet 2017;13(12):e1007150. Epub: 2017/12/28. PMID: 29281629.

Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A. Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. Mol Syndromol 2017;8(5):266-71. Epub: 2017/09/08. PMID: 28878611.

Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genet Med 2018;20(2):223-33. Epub: 2017/08/05. PMID: 28771248.

Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A. Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy. J Med Genet 2017;54(12):809-14. Epub: 2017/04/10. PMID: 28391250.

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. J Med Genet 2017;54(1):64-72. Epub: 2016/08/31. PMID: 27572252.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garcia-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Muhlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Jr., Lin AE, Katsanis N, Jones PL, Crowley WF, Jr., Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 2017;49(2):238-48. Epub: 2017/01/10. PMID: 28067909.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet 2017;101(6):985-94. Epub: 2017/12/05. PMID: 29198724.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian G, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 2017;101(1):23-36. Epub: 2017/06/20. PMID: 28625504.

Zweier M, Peippo MM, Poyhonen M, Kaariainen H, Begemann A, Joset P, Oneda B, Rauch A. The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. Am J Med Genet A 2017;173(5):1440-3. Epub: 2017/03/23. PMID: 28323383.