David A. Chitayat

35.5k citations
583 papers · 26.5k · 4 hit papers · h-index 80

Impact in

  • Genetics top 0.1%
    • Genomic variations and chromosomal abnormalities
    • Genetics and Neurodevelopmental Disorders
    • Genomics and Rare Diseases
  • Pediatrics, Perinatology and Child Health top 0.05%
    • Prenatal Screening and Diagnostics
    • Fetal and Pediatric Neurological Disorders

Papers in

  • Pediatrics, Perinatology and Child Health 161
    • Prenatal Screening and Diagnostics 110
    • Fetal and Pediatric Neurological Disorders 52
  • Genetics 211
    • Genomic variations and chromosomal abnormalities 51
    • Genetic Syndromes and Imprinting 33
    • Genomics and Rare Diseases 31
    • Genetics and Neurodevelopmental Disorders 31
    • Connective tissue disorders research 30
Co-authors
Ants Toi (59 shared papers)Gideon Koren (19 shared papers)Susan Blasér (50 shared papers)Greg Ryan (33 shared papers)Riyana Babul‐Hirji (23 shared papers)Andrea Gaedigk (3 shared papers)Steven J. Leeder (1 shared paper)James Cairns (2 shared papers)
Journals
Prenatal Diagnosis (47 papers)The American Journal of Human Genetics (29 papers)Ultrasound in Obstetrics and Gynecology (27 papers)Journal of Obstetrics and Gynaecology Canada (24 papers)American Journal of Obstetrics and Gynecology (19 papers)
Partner nations
CanadaUnited StatesUnited Kingdom

In The Last Decade

David A. Chitayat

550 papers receiving 25.0k citations

David A. Chitayat's Hit Papers

Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1 2015 · 485 citations
4850+8+17Years since publication50010001.5k
What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

  1. 2015 American Journal of Medical Genetics Part A
  2. 2008 The American Journal of Human Genetics
  3. 2006 The Lancet
  4. 2000 Teratology

Peers

David A. Chitayat
Comparison fields: 5 of 189
  • Genetics 8.5k
  • Pediatrics, Perinatology and Child Health 4.2k
  • Molecular Biology 10.9k
  • Developmental Biology 330
  • Genetics 1.2k
Replace Stanislas Lyonnet with:
Stanislas Lyonnet France
Bruno Dallapiccola Italy
Elaine H. Zackai United States
John Burn United Kingdom
Cynthia J. Curry United States
Maximilian Muenke United States
Jan M. Friedman Canada
Jill Clayton‐Smith United Kingdom
Ron G. Rosenfeld United States
Raoul C. M. Hennekam Netherlands
David A. Chitayat relative to Stanislas Lyonnet France Stanislas Lyonnet's profile →
Citations per field
00.5×2×2.5×
Stanislas Lyonnet · 1×
Citations per year

Countries citing papers authored by David A. Chitayat

Since Specialization
Citations

This map shows the geographic impact of David A. Chitayat's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by David A. Chitayat with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites David A. Chitayat more than expected).

Fields of papers citing papers by David A. Chitayat

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by David A. Chitayat. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by David A. Chitayat. The network helps show where David A. Chitayat may publish in the future.

Co-authors

The 25 scholars most cited alongside David A. Chitayat, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with David A. Chitayat Line = papers co-authored together David A. Chitayat links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 583 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics ·Christian R. Marshall, Abdul Rahman Noor, John B. Vincent, Anath Christopher Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner
Hit paper breakdown →		20081510
2
Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies
Teratology ·Laura Y. Park‐Wyllie, Paolo Mazzotta, Anne L. Pastuszak, Myla E. Moretti, Lizanne C Béïque, Laura Hunnisett, Mark H. Friesen, Sheila Jacobson
Hit paper breakdown →		2000723
3
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Nature Genetics ·Yanick Joseph Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin A M Semple
2006596
4
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
The American Journal of Human Genetics ·Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini
2002593
5
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother
The Lancet ·Gideon Koren, James Cairns, David A. Chitayat, Andrea Gaedigk, Steven J. Leeder
Hit paper breakdown →		2006505
6
Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1
American Journal of Medical Genetics Part A ·Yanick Joseph Crow, Diana S. Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson
Hit paper breakdown →		2015485
7
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data
American Journal of Medical Genetics ·Diane J. Allingham‐Hawkins, Riyana Babul‐Hirji, David A. Chitayat, Jeanette J. A. Holden, Kathy T. Yang, C. Lee, R S Hudson, H. Gorwill
1999411
8
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
Human Mutation ·Nicole Revençu, Laurence Myriam Boon, John Butler Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E. Burrows, Philippe R. M. Clapuyt, Frank Hammer
2008330
9
Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia
The American Journal of Human Genetics ·Alexandre Irrthum, Koenraad Devriendt, David A. Chitayat, GERT L. MATTHIJS, Conrad P. Glade, Peter Martin Steijlen, Jean‐Pierre Fryns, Maurice A. M. Van Steensel
2003329
10
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Clinical Genetics ·Sarah L. Sawyer, Taila Hartley, David Alexandre Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda C Smith, H. Melanie Bedford, Geneviève Bernard
2015306
11
Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
The American Journal of Human Genetics ·Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David A. Chitayat
2004304
12
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
The American Journal of Human Genetics ·Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David R FitzPatrick, Gudrun Nürnberg, Frank E. Brasch, Heidemarie Schirmer-Zimmermann
2007303
13
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
The American Journal of Human Genetics ·Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H. G. Duijf, Kaate R. J. Vanmolkot, Ellen van Beusekom
2001299
14
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Proceedings of the National Academy of Sciences ·Maria I. New, Moolamannil Abraham, Brian D. Gonzalez, Miroslav Dumić, Maryam Razzaghy‐Azar, David A. Chitayat, Li Sun, Mone Zaidi
2013285
15
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
npj Genomic Medicine ·Dimitri James Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah C. Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia
2016285
16
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Nature Genetics ·Yaoqin Gong, Deborah Krakow, José Roberto Marcelino, Douglas J. Wilkin, David A. Chitayat, Riyana Babul‐Hirji, Louanne Hudgins, Cor W. R. J. Cremers
1999281
17
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Nature Genetics ·Lucy R. Osborne, Martin Li, Barbara R. Pober, David A. Chitayat, Joann Norma Bodurtha, Ariane Mandel, Teresa Costa, Theresa A. Grebe
2001255
18
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
Nature Genetics ·Alexander Polinkovsky, Nathaniel H. Robin, Jack Thomas, Mira Irons, Audrey H. Lynn, Frances R. Goodman, William Reardon, Sarina G. Kant
1997237
19
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Nature Genetics ·Beverley Anderson, Paul R. Kasher, Joséphine Mayer, Marcin Szynkiewicz, Emma M. Jenkinson, Sanjeev S. Bhaskar, Jill E. Urquhart, Sarah B. Daly
2012222
20
Mutations in EZH2 Cause Weaver Syndrome
The American Journal of Human Genetics ·William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. J. Mungall, Patrice Eydoux
2011220

About David A. Chitayat

David A. Chitayat is a scholar working on Pediatrics, Perinatology and Child Health, Genetics, Molecular Biology, Genetics and Surgery, having authored 583 papers that have together received 26.5k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (110 papers), Fetal and Pediatric Neurological Disorders (52 papers), Genomic variations and chromosomal abnormalities (51 papers), Genetic Syndromes and Imprinting (33 papers), Genomics and Rare Diseases (31 papers), Genetics and Neurodevelopmental Disorders (31 papers), Connective tissue disorders research (30 papers) and Congenital heart defects research (27 papers). The work is most often cited by research in Genetics (8.5k citations), Pediatrics, Perinatology and Child Health (4.2k citations), Molecular Biology (10.9k citations), Developmental Biology (330 citations) and Genetics (1.2k citations). David A. Chitayat has collaborated with scholars based in Canada, United States and United Kingdom. Frequent co-authors include Ants Toi, Gideon Koren, Susan Blasér, Greg Ryan, Riyana Babul‐Hirji, Andrea Gaedigk, Steven J. Leeder, James Cairns, Sarah Keating and Cheryl Shuman. Their work appears in journals such as Prenatal Diagnosis, The American Journal of Human Genetics, Ultrasound in Obstetrics and Gynecology, Journal of Obstetrics and Gynaecology Canada and American Journal of Obstetrics and Gynecology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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