Ashish Marwaha, University of Toronto

Research

Autoantibodies Consortium Diabetic Ketoacidosis Genetic Risk Score Metabolic Monitoring Population Screening Type 1 Diabetes

Latest papers

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Genetics in Medicine · 2024
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
American journal of medical genetics. Part A · 2022 · first author
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.
JIMD reports · 2021 · first author

All 7 publications

Latest funding

Canadian Population Screening for Risk of Type 1 Diabetes Research Consortium
CIHR · 2023 · Principal investigator
$5,999,552

All 1 grants and awards

7 publications.

01

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK

Genetics in Medicine202410 citations

DOI: 10.1016/j.gim.2023.101012

02

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.

Marwaha A, Costain G, Cytrynbaum C, Mendoza-Londono R, Chad L, Awamleh Z, Chater-Diehl E, Choufani S, Weksberg R

American journal of medical genetics. Part A2022First author

DOI: 10.1002/ajmg.a.62650 PMID: 35043535

03

Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.

Marwaha A, Ibrahim J, Rice T, Hamwi N, Rupar CA, Cresswell D, Prasad C, Schulze A

JIMD reports2021First author

DOI: 10.1002/jmd2.12171 PMID: 33473334

04

Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.

Kashani P, Marwaha A, Feanny S, Kim VH, Atkinson AR, Leon-Ponte M, Mendoza-Londono R, Grunebaum E

Immunologic research2021

DOI: 10.1007/s12026-020-09168-y PMID: 33405195

05

The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.

Marwaha A, Chitayat D, Meyn MS, Mendoza-Londono R, Chad L

American journal of medical genetics. Part A2021First author

DOI: 10.1002/ajmg.a.62092 PMID: 33554457

06

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.

Raghuram N, Marwaha A, Greer MC, Gauda E, Chitayat D

American journal of medical genetics. Part A2020

DOI: 10.1002/ajmg.a.61569 PMID: 32207556

07

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy

Earl BR, Szybowska M, Marwaha A, Belostotsky V, Lara‐Corrales I, Pope E, Kannu P

Journal of Dermatology20205 citations

DOI: 10.1111/1346-8138.15377

Canadian Population Screening for Risk of Type 1 Diabetes Research Consortium

Principal investigatorCIHR2023Team Grant: CIHR-JDRF Type 1 Diabetes Screening Research Consortium

Principal investigators: Wherrett, Diane K; Delorme, Sasha; Chakraborty, Pranesh K; Hayeems, Robin Z; Kastner, Monika; L'Espérance, Audrey; Manousaki, Despoina; Marwaha, Ashish K; McGavock, Jonathan M; Pow, Conrad; Senior, Peter A; Tsui, Albert K; Verchere, Bruce C; Witteman, Holly M

Keywords: Autoantibodies; Consortium; Diabetic Ketoacidosis; Genetic Risk Score; Metabolic Monitoring; Population; Screening; Type 1 Diabetes

$5,999,552

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

Frequent collaborators

Pediatrics
Li Ka Shing Knowledge
Computer Science
Developmental and Stem Cell Biology
Genetics and Genome Biology
School of Epidemiology and Public Health
Community Health Sciences
Other

Applying for

Paper to mentionMention their CIHR grant from 2023

Subject: Prospective PhD student: Autoantibodies Dear Professor Marwaha, My name is [your name], and I am a [your current degree or role] at [your institution]. I am applying for a PhD position starting in [term and year]. I read your paper "Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study" (2024), and it connects closely to my own work on [your research topic]. [One or two sentences on what you did and what you learned.] I also saw your CIHR-funded project "Canadian Population Screening for Risk of Type 1 Diabetes Research Consortium" (2023), and I would be glad to contribute to work in that direction. Are you accepting new PhD students for [term and year]? I have attached my CV and transcripts, and I would be glad to talk at a time that suits you. Thank you for your time. Kind regards, [your name]