World's Best Scientists 2026 revealed!
David Chitayat

David Chitayat

D-Index & Metrics

Biology and Biochemistry

D-Index
102
Citations
37929
World Ranking
1367
National Ranking
40

Medicine

D-Index
102
Citations
39410
World Ranking
7641
National Ranking
294

Overview

David Chitayat is affiliated with the University of Toronto in Canada. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, encompassing a notable number of publications in these areas.

The subfields that characterize their work include Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, and Surgery. These areas reflect a multidisciplinary approach to medical science and genetic research.

The main topics addressed in their research involve:

  • Prenatal Screening and Diagnostics
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Fetal and Pediatric Neurological Disorders
  • Congenital heart defects research
  • Genetics and Neurodevelopmental Disorders
  • RNA modifications and cancer

David Chitayat has contributed to several scientific publications, including:

  • "Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome" (2020), Cell Stem Cell
  • "Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients" (2020), Science Advances
  • "Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity" (2020), JAMA Network Open
  • "Haploinsufficiency of SF3B2 causes craniofacial microsomia" (2021), Nature Communications
  • "Mapping the cellular origin and early evolution of leukemia in Down syndrome" (2021), Science

Frequent coauthors who have collaborated extensively with David Chitayat include:

  • Patrick Shannon
  • Karen Chong
  • Maian Roifman
  • Shiri Shinar
  • Ebba Alkhunaizi

Their work has appeared in several publication venues multiple times, notably:

  • American Journal of Medical Genetics Part A
  • Prenatal Diagnosis
  • Genetics in Medicine Open
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Clinical Genetics

Best Publications

  • Structural variation of chromosomes in autism spectrum disorder.

    Christian R. Marshall;Abdul Noor;John B. Vincent;Anath C. Lionel

  • Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studies

    Laura Park-Wyllie;Paolo Mazzotta;Anne Pastuszak;Myla E. Moretti

  • Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

    Daniel Beltrán Valero De Bernabé;Sophie Currier;Alice Steinbrecher;Jacopo Celli

  • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

    Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner

  • Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.

    Gideon Koren;James Cairns;David Chitayat;Andrea Gaedigk

  • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  • Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

    Diane J Allingham-Hawkins;Riyana Babul-Hirji;David Chitayat;Jeanette J A Holden

  • Evidence for multi‐site closure of the neural tube in humans

    Margot I. Van Allen;Dagmar K. Kalousek;Gerold F. Chernoff;Diana Juriloff

  • Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

    Alexandre Irrthum;Koenraad Devriendt;David Chitayat;Gert Matthijs

  • Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

    Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  • Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

    Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras

  • A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

    Lucy R. Osborne;Martin Li;Barbara Pober;David Chitayat

  • p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

    Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

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

    Dimitri J. Stavropoulos;Daniele Merico;Rebekah Jobling;Sarah Bowdin

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

    Yaoqin Gong;Deborah Krakow;Deborah Krakow;Jose Marcelino;Douglas Wilkin

  • Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

    Rosanna Weksberg;Cheryl Shuman;Oana Caluseriu;Adam C. Smith

  • Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

    Maria I. New;Moolamannil Abraham;Brian Gonzalez;Miroslav Dumic

  • Mutations in EZH2 cause Weaver syndrome.

    William T. Gibson;William T. Gibson;Rebecca L. Hood;Rebecca L. Hood;Shing Hei Zhan;Dennis E. Bulman

Frequent Co-Authors

Rosanna Weksberg
Rosanna Weksberg University of Toronto
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Sylvie Langlois
Sylvie Langlois University of British Columbia
Gideon Koren
Gideon Koren Brown University
Han G. Brunner
Han G. Brunner Radboud University
Peter N. Ray
Peter N. Ray University of Toronto
Christian R. Marshall
Christian R. Marshall University of Toronto
Lisa G. Shaffer
Lisa G. Shaffer Paw Print Genetics
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Aleksander Hinek
Aleksander Hinek University of Toronto

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