Ayeshah Chaudhry

Dr. Ayeshah Chaudhry is a Staff Geneticist at Trillium Health Partners and Assistant Professor of Labroatory Medicine and Pathology at the University of Toronto. She completed her residency training in Medical Genetics at The Hospital for Sick Children, University of Toronto in 2016.        

Research Synopsis

Dr. Chaudhry's research interests include detailed delineation of phenotype of rare genetic disorders. She is also interested in research aimed at finding genetic etiology of craniofacial disorders, autism and intellectual disability.

Recent Publications

"Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Paediatric Medicine". Stavropoulos DJ, Merico D, Jobling R, Meyn MS, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G,Yuen RK, Szego M, Hayeems R, Zlotnik-Shaul R, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Badilla Porras R, Carter M T, Chad L, Chaudhry A, Chitayat D, Jougheh Doust S, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena S, Weksberg R, Yoon G, Carew C, Erickson R, Leach R A, Klein R, Ray P N, Scherer S W, Cohn R D, Marshall C R. npj Genomic Medicine. November 2015.

“Heterozygous mutations in ERF gene cause syndromic craniosynostosis with multiple suture involvement”. Chaudhry A, Sabatini P, Han L, Ray P, Forrest C, Bowdin S. Am J Med Genet A. 2015 Jun 22. doi: 10.1002/ajmg.a.37218. [Epub ahead of print]. PMID:26097063

“Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder”. Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; The DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Clinical Genetics. August 2014.    

“Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects”. Lepage N, Chaudhry A, Konforte D, Shaw J, Veljkovic K, Dennis A, Rashid S, Farrell SA. Clinical Biochemistry. June 2012.