David Chitayat
Affiliations: | Molecular Genetics | University of Toronto, Toronto, ON, Canada |
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Publications
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| Chacon Fonseca I, Wong J, Mireskandari K, et al. (2020) Newborn with bilateral congenital cataracts: Never forget congenital rubella syndrome. Paediatrics & Child Health. 25: 72-76 |
| Roifman M, Niles KM, MacNeil L, et al. (2020) Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical Genetics |
| Miao Y, Tian L, Martin M, et al. (2020) Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. Cell Stem Cell |
| Deshwar AR, Martin N, Shannon P, et al. (2020) A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Clinical Genetics |
| Abdelfattah F, Kariminejad A, Kahlert AK, et al. (2020) Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human Mutation |
| Shinar S, Agrawal S, Ryu M, et al. (2020) Fetal Meconium Peritonitis - Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis. Ultraschall in Der Medizin (Stuttgart, Germany : 1980) |
| Alkhunaizi E, Unger S, Shannon P, et al. (2020) Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. American Journal of Medical Genetics. Part A |
| Choufani S, Gibson WT, Turinsky AL, et al. (2020) DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. American Journal of Human Genetics |
| Raghuram N, Marwaha A, Greer MC, et al. (2020) Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. American Journal of Medical Genetics. Part A |
| Hughes JJ, Alkhunaizi E, Kruszka P, et al. (2019) Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics |