Ayesha Ahmad

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

Fabiola Quintero‐Rivera, Yanli Fan, Fowzan S. Alkuraya et al. · PLoS Genetics · 2007 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin et al. · The Journal of Pediatrics · 2016 · 80 citations

Medicine, Pediatrics, Pharmacology +17

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Devin Oglesbee, Miao He, Nilanjana Majumder et al. · Genetics in Medicine · 2007 · 55 citations · Full text

Medicine, Biochemistry, Pediatrics +16

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3

Wenbo Xu, Ayesha Ahmad, Susan L. Dagenais et al. · American Journal of Medical Genetics Part A · 2012 · 44 citations · Full text

Medicine, Genetics, Molecular Genetics +17