Faculty profile

David Chitayat

ResearcherComputer ScienceUniversity of Toronto

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Toronto directory, so their courses and email address may be missing. Find their university profile.

David Chitayat

Researcher

Computer Science

Health Sciences

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
69 publications in the last five years, latest in 2026.
Senior (last) author on 9 recent papers, a sign of leading a research group.
Principal investigator on 1 research grant (1 CIHR), most recently in 2012.

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

259

Publications

3,079

Citations

h-index

119

Collaborators

Grants

Publications by year

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

Profiles and links

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Signals and details

Research

Clinical Genetics Health Informatics Phenotyping Rare Disorders

Latest papers

Natural History of Fetal Non-Nuchal Lymphatic Malformations: A Single Center Retrospective Study.
Prenatal diagnosis · 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.
American journal of human genetics · 2026
Risk of Major Malformations Following First-Trimester Exposure to Cariprazine: Preliminary Data From the MGH National Pregnancy Registry for Psychiatric Medications.
Bipolar disorders · 2026

All 259 publications

Latest funding

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care
CIHR · 2024 · Co-investigator
$248,625
Establishing the genetic and cellular mechanisms that control growth of the fetal left heart
CIHR · 2022 · Co-investigator
$100,000
Determining the mechanisms underlying disease pathology in Kabuki syndrome
CIHR · 2021 · Co-investigator
$883,576

All 7 grants and awards

From the 150 most recent of 259 publications.

Natural History of Fetal Non-Nuchal Lymphatic Malformations: A Single Center Retrospective Study.

Kunpalin Y, Kajal D, Van der Veeken L, Chitayat D, Carcao M, Campisi P, Ryan G, Shinar S, Van Mieghem T

Prenatal diagnosis2026

DOI: 10.1002/pd.70211 PMID: 42429287

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Lemire G, Marshall AE, Patel TS, Trejo Martinez J, Lerman-Sagie T, Mears W, Wang X, Lev D, Eaton AJ, Bontempo K, Angle B, Shannon P, Blaser S, Care4Rare Canada Consortium, Boycott KM, Richer J, Chong K, Drivas TG, Chitayat D

American journal of human genetics2026

DOI: 10.1016/j.ajhg.2026.06.009 PMID: 42409022

Risk of Major Malformations Following First-Trimester Exposure to Cariprazine: Preliminary Data From the MGH National Pregnancy Registry for Psychiatric Medications.

Viguera AC, Freeman MP, Slaby EK, Manuelian AM, Gaccione P, Chitayat D, Hernández-Díaz S, Cohen LS

Bipolar disorders2026

DOI: 10.1111/bdi.70138 PMID: 42396902

A digital microfluidic platform for cell-based non-invasive testing.

Siriwardena D, Dryden MDM, Chamberlain MD, Taylor C, Dupoiron L, Gulati S, Abbas F, Lamanna J, Chitayat D, Wheeler AR, Greenfeld E

iScience2026

DOI: 10.1016/j.isci.2026.116413 PMID: 42375540

Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association.

Pai V, Shinar S, Krishnan P, Shannon P, Chitayat D, Fisher Y, Blaser S, Miller E

AJNR. American journal of neuroradiology2026

DOI: 10.3174/ajnr.a9173 PMID: 41565358

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S, Weksberg R

American journal of human genetics2026

DOI: 10.1016/j.ajhg.2026.04.010 PMID: 42134323

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Branco Fonseca T, Abramova T, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Otaify GA, Al-Thihli K, Al-Maawali A, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP, Krainc D

The Journal of clinical investigation2026

DOI: 10.1172/jci195336 PMID: 42012897

Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.

Shinar S, Carmant LS, Tripathy P, Wade N, Shannon P, Chong K, Chitayat D, Miller E

Archives of disease in childhood. Fetal and neonatal edition2026

DOI: 10.1136/archdischild-2025-330148 PMID: 41980807

From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.

Al-Mufty S, Mackley MP, Parsons L, Armel SR, McCuaig J, Chitayat D, Afonso S

CJC open2026

DOI: 10.1016/j.cjco.2026.03.009 PMID: 42609835

Examining aspects of job satisfaction associated with burnout and factors related to turnover intention in genetic counselors.

Stanley KJ, MacFarlane IM, Randall Armel S, Chitayat D, Johnstone B

Journal of genetic counseling2026

DOI: 10.1002/jgc4.70189 PMID: 41772869

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care

Co-investigatorCIHR2024Project Grant

Principal investigators: Hayeems, Robin Z

Keywords: Clinical Utility; Genomics; Neonatal Intensive Care; Outcome Measurement Development

$248,625

Establishing the genetic and cellular mechanisms that control growth of the fetal left heart

Co-investigatorCIHR2022Operating Grant - PA: Genetics (Bridge Funding: Research Priorities)

Principal investigators: Sled, John G; Scott, Ian C

Keywords: Comparative Genomics; Congenital Heart Disease; Heart Growth; Hypoplastic Left Heart Syndrome; Imaging; Model Organism; Transcriptomics

$100,000

Determining the mechanisms underlying disease pathology in Kabuki syndrome

Co-investigatorCIHR2021Project Grant

Principal investigators: Weksberg, Rosanna

Keywords: Chromatin Regulation; Crispr Editing; Disease Mechanism; Dna Methylation; Functional Epigenomics; Ipsc; Ipsc Derived Neurons; Mouse Model; Neurodevelopmental Disorders; Precision Medicine

$883,576

Developmental Pathways to Health and Disease: Fetal Programming and Protection

Co-investigatorCIHR2015Foundation Grant

Principal investigators: Matthews, Stephen G

Keywords: Blood-Brain-Barrier; Fetus; Glucocorticoids; Human Development; Maternal/Child Health; Neuroendocrinology; Perinatal; Pregnancy; Programming; Stress Physiology

$4,094,169

Computerized patient phenotyping to connect canadian clinical genetics clinics

Co-investigatorNSERC2013Collaborative Health Research Projects

Principal investigators: Brudno, Michael

$211,500

Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics

Principal investigatorCIHR2012Collaborative Health Research Projects (NSERC partnered)

Principal investigators: Brudno, Michael; Bowdin, Sarah; Boycott, Kym M; Chitayat, David A

Keywords: Clinical Genetics; Health Informatics; Phenotyping; Rare Disorders

$211,500

Genetic and Epigenetic Determinants of Syndromic Intellectual Disability

Co-investigatorCIHR2012Operating Grant

Principal investigators: Weksberg, Rosanna

Keywords: Dna Methylation; Epigenetics; Exome Sequencing; Intellectual Disability

$750,400

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

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David Chitayat

Research

Latest papers

Latest funding

Natural History of Fetal Non-Nuchal Lymphatic Malformations: A Single Center Retrospective Study.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Risk of Major Malformations Following First-Trimester Exposure to Cariprazine: Preliminary Data From the MGH National Pregnancy Registry for Psychiatric Medications.

A digital microfluidic platform for cell-based non-invasive testing.

Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.

From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.

Examining aspects of job satisfaction associated with burnout and factors related to turnover intention in genetic counselors.

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care

Establishing the genetic and cellular mechanisms that control growth of the fetal left heart

Determining the mechanisms underlying disease pathology in Kabuki syndrome

Developmental Pathways to Health and Disease: Fetal Programming and Protection

Computerized patient phenotyping to connect canadian clinical genetics clinics

Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics

Genetic and Epigenetic Determinants of Syndromic Intellectual Disability

Frequent collaborators

Rosanna Weksberg

Abdul Noor

Seema Mital

Gideon Koren

Gregory Costain

John Kingdom

Lauren Chad

Edgar Jaeggi

Michael Brudno

Resham Ejaz

Jennifer Harrington

Peter Kannu

Christoph Licht

Mathieu Lemaire

David Malkin

Yiming Wang

Diane Wherrett

Jordan Lerner-Ellis

Daria Grafodatskaya

Cynthia Hawkins

Hilary Whyte

Yvonne Bombard

Peter Kim

Vibhuti Shah

Ronald Cohn

Pranesh Chakraborty

Asim Ali

Mathew Sermer

Chumei Li

Mark Tarnopolsky

Diane Reid

Tapas Mondal

Sarah Bowdin

Anne-Marie Laberge

Yigal Dror

Andrea Eisen

Sergio Grinstein

Michelle Hladunewich

James Drake

Rohan D'Souza