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GM-07526

Funded outputs count: 29
Funder award ID: GM-07526
OpenAlex ID: G368261771
Impact of prenatal genomics on clinical genetics practice
2024 · Roni Zemet, Ignatia B. Van den Veyver · Best Practice & Research Clinical Obstetrics & Gynaecology · 7
Limited Role of MSAFP Screening for Prenatal Omphalocele Detection
2024 · Christian M. Parobek, Matthew A. Shanahan, et al. · Journal of Ultrasound in Medicine
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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation
2024 · Roni Zemet, Roni Zemet, et al. · Molecular Genetics and Metabolism · 13
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis
2024 · Christian M. Parobek, Roni Zemet, et al. · Clinical Genetics · 11
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
2023 · Roni Zemet, Haowei Du, et al. · Human Genetics · 3
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Implication of chromosomal microarray analysis prior to in‐utero repair of fetal open neural tube defect
2023 · R. Zemet, E. Krispin, et al. · Ultrasound in Obstetrics and Gynecology · 10
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
2021 · Chaofan Zhang, Angad Jolly, et al. · Human Genetics and Genomics Advances · 39
Comprehensive genomic analysis of patients with disorders of cerebral cortical development
2018 · Wojciech Wiszniewski, Pawel Gawlinski, et al. · European Journal of Human Genetics · 43
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
2016 · Regis A. James, Ian M. Campbell, et al. · Genome Medicine · 42
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POGZ truncating alleles cause syndromic intellectual disability
2016 · Janson White, Christine R. Beck, et al. · Genome Medicine · 99
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
2015 · Shen Gu, Jennifer E. Posey, et al. · Human Mutation · 18
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
2015 · F. J. Probst, R. A. James, et al. · Orphanet Journal of Rare Diseases · 50
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
2014 · Sirisha Peddibhotla, Sandesh CS Nagamani, et al. · European Journal of Human Genetics · 53
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Lysinuric protein intolerance presenting with multiple fractures
2014 · Jennifer E. Posey, Lindsay C. Burrage, et al. · Molecular Genetics and Metabolism Reports · 25
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The genetic basis of DOORS syndrome: an exome-sequencing study
2013 · Philippe M Campeau, Dalia Kasperaviciute, et al. · The Lancet Neurology · 225
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A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria
2012 · Sandesh C.S. Nagamani, Oleg A. Shchelochkov, et al. · Molecular Genetics and Metabolism · 44
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Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
2012 · Sandesh C S Nagamani, Ayelet Erez, et al. · European Journal of Human Genetics · 68
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Optimizing therapy for argininosuccinic aciduria
2012 · Sandesh CS Nagamani, Brendan Lee, et al. · Molecular Genetics and Metabolism · 16
Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
2012 · Sandesh C.S. Nagamani, Philippe M. Campeau, et al. · The American Journal of Human Genetics · 83
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Argininosuccinate lyase deficiency
2012 · Sandesh C.S. Nagamani, Ayelet Erez, et al. · Genetics in Medicine · 124
Requirement of argininosuccinate lyase for systemic nitric oxide production
2011 · Ayelet Erez, Sandesh C S Nagamani, et al. · Nature Medicine · 232
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
2011 · Sandesh C Sreenath Nagamani, Ayelet Erez, et al. · European Journal of Human Genetics · 51
Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism
2011 · Ayelet Erez, Oleg A. Shchelochkov, et al. · The American Journal of Human Genetics · 64
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Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond
2011 · Ayelet Erez, Sandesh C. Sreenath Nagamani, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 105
Phenotypic manifestations of copy number variation in chromosome 16p13.11
2010 · Sandesh C Sreenath Nagamani, Ayelet Erez, et al. · European Journal of Human Genetics · 117
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