David Mowat

10.1k citations

72 papers · 2.5k · h-index 27

Impact in

Genetics top 5%
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
Molecular Biology top 10%
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology

Papers in

Molecular Biology 32
- Muscle Physiology and Disorders 10
- Renal and related cancers 5
- RNA modifications and cancer 5
Surgery 20
- Congenital gastrointestinal and neural anomalies 15

Co-authors: Meredith Wilson (9 shared papers)Elizabeth E. Palmer (3 shared papers)Michel Goossens (5 shared papers)John A. Lawson (7 shared papers)Bronwyn Kerr (3 shared papers)Seán Kennedy (7 shared papers)Michael F. Buckley (4 shared papers)Florence Dastot‐Le Moal (3 shared papers)
Journals: Journal of Medical Genetics (4 papers)Clinical Genetics (3 papers)The American Journal of Human Genetics (3 papers)Neuromuscular Disorders (2 papers)European Journal of Medical Genetics (2 papers)
Partner nations: Australia United States France

In The Last Decade

David Mowat

71 papers receiving 2.5k citations

Peers

Countries citing papers authored by David Mowat

Since Specialization

Citations

This map shows the geographic impact of David Mowat'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 Mowat with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites David Mowat more than expected).

Fields of papers citing papers by David Mowat

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by David Mowat. 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 Mowat. The network helps show where David Mowat may publish in the future.

Co-authors

The 25 scholars most cited alongside David Mowat, 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 Mowat Line = papers co-authored together David Mowat links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 72 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis The American Journal of Human Genetics ·Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller	2005	251
2	Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. Journal of Medical Genetics ·David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Bronwyn Kerr, Jeffrey Chaitow, Lesley C. Adès, Nicole Chia, Meredith Wilson	1998	175
3	Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy PLoS ONE ·Peter J. Taylor, Grant A. Betts, Sarah Maroulis, Christian Gilissen, Robyn L. Pedersen, David Mowat, Heather Johnston, Michael F. Buckley	2010	157
4	Mowat-Wilson syndrome Journal of Medical Genetics ·David Mowat, (unknown), (unknown)	2003	154
5	Coffin–Siris syndrome is a SWI/SNF complex disorder Clinical Genetics ·Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Seiji Mizuno, Naomichi Matsumoto, (unknown), Yoshio Makita, M. Fukuda, Bertrand Isidor, J. Perrier, Shagun Aggarwal, Ashwin Dalal, Adila Al‐Kindy, Jan Liebelt, David Mowat, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Nobuyuki Matsumoto, (unknown)	2013	105
6	Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing Human Mutation ·Alan Ma, John Grigg, Gladys Ho, Ivan Prokudin, Elizabeth Farnsworth, Katherine Holman, Anson Cheng, Frank A. Billson, Frank Martin, Clare L. Fraser, David Mowat, James E. Smith, John Christodoulou, Maree Flaherty, Bruce Bennetts, Robyn V. Jamieson	2015	104
7	Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex The Journal of Pediatrics ·Michael Cardamone, Danny Flanagan, David Mowat, Seán Kennedy, Maya Chopra, John A. Lawson	2014	102
8	ZFHX1B mutations in patients with Mowat-Wilson syndrome Human Mutation ·Florence Dastot‐Le Moal, Meredith Wilson, David Mowat, Nathalie Collot, Florence Niel, Michel Goossens	2007	101
9	SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism Human Genetics ·Véronique Pingault, Mathilde Girard, Nadège Bondurand, Huw Dorkins, Lionel Van Maldergem, David Mowat, Takashi Shimotake, Ishwar C. Verma, Clarisse Baumann, Michel Goossens	2002	95
10	Agenesis of the corpus callosum: A clinical approach to diagnosis American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Elizabeth E. Palmer, David Mowat	2014	70
11	Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B American Journal of Medical Genetics Part A ·Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens	2003	69
12	Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy The American Journal of Human Genetics ·Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, Sandra T. Cooper, Biljana Ilkovski, Kristi Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C. Froehner, Kathryn N. North	2008	61
13	A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome The American Journal of Human Genetics ·Sze Chern Lim, Katherine R. Smith, David A. Stroud, Alison G. Compton, Elena J. Tucker, Ayan Dasvarma, Luke C. Gandolfo, Justine E. Marum, Matthew McKenzie, Heidi Peters, David Mowat, Peter G. Procopis, Bridget Wilcken, John Christodoulou, Garry K. Brown, Michael T. Ryan, Melanie Bahlo, David R. Thorburn	2014	55
14	Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity Annals of Neurology ·Rishika A. Pace, Rachel A. Peat, Naomi L. Baker, Laura Zamurs, Matthias Mörgelin, Melita Irving, Naomi E. Adams, John F. Bateman, David Mowat, Nicholas Smith, Phillipa J. Lamont, Steven A. Moore, Katherine D. Mathews, Kathryn N. North, Shireen R. Lamandé	2008	54
15	Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience European Journal of Paediatric Neurology ·Darcy A. Krueger, Jamie K. Capal, Paolo Curatolo, Orrin Devinsky, Kevin C. Ess, Michal Tzadok, Mary Kay Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jóźwiak, Petrus de Vries, Anna Jansen, Michael Wong, David Mowat, John A. Lawson, Stephanie Bruns, David Neal Franz	2018	54
16	Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz–Jeghers syndrome patients Clinical Genetics ·Rodney J. Scott, Renee Crooks, Cliff Meldrum, L. Thomas, CJA Smith, David Mowat, Mary McPhillips, AD Spigelman	2002	46
17	Preferential replication of the ribosomal RNA genes during a nutritional shift-up in Tetrahymena pyriformis Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis ·Jan Engberg, David Mowat, Ronald E. Pearlman	1972	42
18	Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy Journal of Medical Genetics ·Peter J. Taylor, Sarah Maroulis, Glenda Mullan, Robyn L. Pedersen, A. Baumli, George Elakis, (unknown), (unknown), B. Prosper-Gutierrez, F. De La Puente-Alonso, Christopher G. Bell, David Mowat, (unknown), Michael F. Buckley	2007	41
19	ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome Human Molecular Genetics ·Jamal Ghoumid, Loïc Drévillon, Seyedeh Maryam Alavi-Naini, Nadège Bondurand, Marlène Rio, Audrey Briand‐Suleau, Mayssa Nasser, Linda Goodwin, P. Raymond, Constantin Yanicostas, Michel Goossens, Stanislas Lyonnet, David Mowat, Jeanne Amiel, Nadia Soussi‐Yanicostas, Irina Giurgea	2013	41
20	Epilepsy and associated psychopathology in young people with intellectual disability Journal of Paediatrics and Child Health ·Joan Lewis, Bruce J. Tonge, David Mowat, Stewart Einfeld, Heather Michelle Siddons, Vaughan W. Rees	2000	35

About David Mowat

David Mowat is a scholar working on Molecular Biology, Surgery, Genetics, Pediatrics, Perinatology and Child Health and Physiology, having authored 72 papers that have together received 2.5k indexed citations. Recurring topics across this work include Congenital gastrointestinal and neural anomalies (15 papers), Muscle Physiology and Disorders (10 papers), Tuberous Sclerosis Complex Research (8 papers), Neurogenetic and Muscular Disorders Research (7 papers), Genomic variations and chromosomal abnormalities (6 papers), Renal and related cancers (5 papers), Prenatal Screening and Diagnostics (5 papers) and RNA modifications and cancer (5 papers). The work is most often cited by research in Genetics (551 citations), Molecular Biology (1.2k citations), Surgery (591 citations), Pediatrics, Perinatology and Child Health (239 citations) and Genetics (131 citations). David Mowat has collaborated with scholars based in Australia, United States and France. Frequent co-authors include Meredith Wilson, Elizabeth E. Palmer, Michel Goossens, John A. Lawson, Bronwyn Kerr, Seán Kennedy, Michael F. Buckley, Florence Dastot‐Le Moal, Stewart Einfeld and Nicole Chia. Their work appears in journals such as Journal of Medical Genetics, Clinical Genetics, The American Journal of Human Genetics, Neuromuscular Disorders and European Journal of Medical Genetics.

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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