Faculty profile

Ayeshah Chaudhry

Back to faculty

Assistant ProfessorDepartment of Laboratory Medicine and PathobiologyUniversity of Toronto

Ayeshah Chaudhry

Assistant Professor

Department of Laboratory Medicine and Pathobiology

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
3 publications in the last five years, latest in 2023.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

380

Citations

h-index

Collaborators

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

Education

Bachelor of Medicine and Bachelor of Surgery (MBBS)

Profiles and links

University Profile Search on Google Scholar

Find them onX · LinkedIn · Bluesky · YouTube

Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
American journal of medical genetics. Part A · 2023
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Molecular psychiatry · 2023
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
International journal of molecular sciences · 2022

All 8 publications

8 publications.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D

American journal of medical genetics. Part A2023

DOI: 10.1002/ajmg.a.63194 PMID: 36987741

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Bonnet M, Roche F, Fagotto-Kaufmann C, Gazdagh G, Truong I, Comunale F, Barbosa S, Bonhomme M, Nafati N, Hunt D, Rodriguez MP, Chaudhry A, Shears D, Madruga M, Vansenne F, Curie A, Kajava AV, Baralle D, Fassier C, Debant A, Schmidt S

Molecular psychiatry2023

DOI: 10.1038/s41380-023-01963-x PMID: 36717740

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM

International journal of molecular sciences2022

DOI: 10.3390/ijms23148001 PMID: 35887345

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM

Genetics in medicine : official journal of the American College of Medical Genetics2021

DOI: 10.1038/s41436-020-00992-z PMID: 33077894

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D

American journal of medical genetics. Part A2017First author

DOI: 10.1002/ajmg.a.38321 PMID: 28742278

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.

Rafiq MA, Chaudhry A, Care M, Spears DA, Morel CF, Hamilton RM

American journal of medical genetics. Part A2017

DOI: 10.1002/ajmg.a.38087 PMID: 28211974

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ

npj Genomic Medicine2016380 citations

DOI: 10.1038/npjgenmed.2015.12

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S

American journal of medical genetics. Part A2015First author

DOI: 10.1002/ajmg.a.37218 PMID: 26097063

Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.

Something wrong or missing on this profile? Suggest a correction

Ayeshah Chaudhry

Research

Latest papers

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Frequent collaborators

David Chitayat

Sarah Bowdin

Michael Brudno

Sylvia Stockler

Asim Ali

Peter Kannu

Raymond Kim

Lauren Chad

Bekim Sadikovic

Resham Ejaz

Eriskay Liston

Rosanna Weksberg