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American Journal of Medical Genetics. Part A|April 6, 2011
PTPN11 gene mutation associated with abnormal gonadal determinationShailly Jain Ghai, Sarah Keating, David Chitayat
Endocrinology, Diabetes & Metabolism Case Reports|March 29, 2023
First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiencyValerie Lai, Mariam Shahidi, Alicia Chan, et al.
European Journal of Medical Genetics|March 8, 2011
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6Shailly Jain Ghai, Mary Shago, Manohar Shroff, et al.
Acta Neuropathologica Communications|August 6, 2014
Fetal syringomyeliaAnne Guo, David Chitayat, Susan Blaser, et al.
European Journal of Medical Genetics|November 5, 2022
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7Marissa L Ledger, Milja Kaare, Janette A Mailo, et al.
Fetal Diagnosis and Therapy|August 17, 2006
First trimester ultrasound diagnosis of lethal multiple pterygium syndromeMunire Gundogan, Katherine Fong, Sarah Keating, et al.
Pediatrics|March 26, 2014
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patientShailly Jain-Ghai, Navin Mishra, Cecil Hahn, et al.
Molecular Genetics and Metabolism|August 2, 2011
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai, Sandesh C Sreenath Nagamani, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disordersBrian Chung, Lisa G Shaffer, Sarah Keating, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 27, 2009
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetusCharis Kepron, Andrea Blumenthal, David Chitayat, et al.
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