2016

Brodbeck M, Yousif Q, Diener PA, Zweier M, Gruenert J (2016) The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Res Notes. 2016 Jun 7;9:294.

Asadollahi R (2016) Inspirations in medical genetics. J Med Biogr. 2016 Feb;24(1):138-40.

Hackenberg A, Boltshauser E, Gerth-Kahlert C, Stahr N, Azzarello-Burri S, Plecko B (2016) Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations. 2016 Dec 26. doi: 10.1055/s-0036-1597610. [Epub ahead of print]

Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium (2016) Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14.

Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV (2016) Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clin Genet. 2016 Oct;90(4):378-82. 

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN (2016) Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet 99:1117-1129.

Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B (2016) The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. J Inherit Metab Dis. 39:733-741

Oneda B, Steindl K, Masood R, Reshetnikova I, Krejci P, Baldinger R, Reissmann R, Taralczak M, Guetg A, Wisser J, Fauchère JC, Rauch A (2016) Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. Eur J Obstet Gynecol Reprod Biol 200:72-75

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C (2016) Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics 53:511-522

Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ (2016) Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18:788-795

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A (2016) A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 170:392-402

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B (2016) N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. J Inherit Metab Dis 39:131–137

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study.; 16p11.2 European Consortium.; Simons Variation in Individuals Project (VIP) Consortium (2016) Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry 73:20-30.