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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Among authors: blaser s. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Abnormalities of the foetal cerebral cortex.
Toi A, Chitayat D, Blaser S. Toi A, et al. Among authors: blaser s. Prenat Diagn. 2009 Apr;29(4):355-71. doi: 10.1002/pd.2211. Prenat Diagn. 2009. PMID: 19235759 Review.
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium; Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Al-Maawali A, et al. Among authors: blaser s. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961627 Free PMC article.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: blaser s. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Mitani T, et al. Among authors: blaser s. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630790 Free PMC article.
391 results