Edwin Philip Kirk

8.3k citations

167 papers · 6.1k · 1 hit paper · h-index 40

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Genetics top 1%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders

Papers in

Genetics 52
- Genomic variations and chromosomal abnormalities 18
- Genomics and Rare Diseases 18
Clinical Biochemistry 15
- Metabolism and Genetic Disorders 15

Co-authors: Richard Paul Harvey (16 shared papers)David Scott Winlaw (15 shared papers)Gary F. Sholler (14 shared papers)Gillian M. Blue (12 shared papers)Michael Patrick Feneley (5 shared papers)Sally L. Dunwoodie (9 shared papers)Diane Fatkin (4 shared papers)Avihu Boneh (4 shared papers)
Journals: European Journal of Human Genetics (13 papers)Genetics in Medicine (11 papers)The American Journal of Human Genetics (8 papers)Prenatal Diagnosis (5 papers)Journal of Medical Genetics (5 papers)
Partner nations: Australia United States United Kingdom

In The Last Decade

Edwin Philip Kirk

158 papers receiving 5.8k citations

Edwin Philip Kirk's Hit Papers

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Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1 2015 · 485 citations

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.

2015 American Journal of Medical Genetics Part A

Peers

Countries citing papers authored by Edwin Philip Kirk

Since Specialization

Citations

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

Fields of papers citing papers by Edwin Philip Kirk

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Edwin Philip Kirk. 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 Edwin Philip Kirk. The network helps show where Edwin Philip Kirk may publish in the future.

Co-authors

The 25 scholars most cited alongside Edwin Philip Kirk, 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 Edwin Philip Kirk Line = papers co-authored together Edwin Philip Kirk 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 167 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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 →	2015	485
2	Mutations in Cardiac T-Box Factor Gene TBX20 are associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy Griffith Research Online ·Edwin Philip Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro, Tanya L. Butler, Changbaig Hyun	2007	299
3	Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition The American Journal of Human Genetics ·Anna A. Richards, M. Buddles, Rosemary L. Donne, Bernard S. Kaplan, Edwin Philip Kirk, Michael C. Venning, Christian L. Tielemans, Judith A. Goodship	2001	274
4	Congenital heart disease: current knowledge about causes and inheritance The Medical Journal of Australia ·Gillian M. Blue, Edwin Philip Kirk, Gary F. Sholler, Richard Paul Harvey, David Scott Winlaw	2012	218
5	Cardiac homeobox gene NKX2-5mutations and congenital heart disease Journal of the American College of Cardiology ·David A. Elliott, Edwin Philip Kirk, Thomas Yeoh, Suchitra Chandar, Fiona McKenzie, Peter Nicholas Taylor, Paul Grossfeld, Diane Fatkin	2003	207
6	Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System JAMA ·Sebastian Lunke, Stefanie Eggers, Meredith J.C. Wilson, Chirag Patel, Christopher Barnett, Jason R. Pinner, Sarah A. Sandaradura, Michael F. Buckley	2020	191
7	NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation ·Denise M. Kirby, Renato Salemi, Canny Sugiana, Akira Ohtake, Lee Parry, Katrina M. Bell, Edwin Philip Kirk, Avihu Boneh	2004	175
8	IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria Science ·Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, K. Michael Gibson, Warsha A. Kanhai, Marjo van der Knaap, Jeanne Amiel, Neil R.M. Buist	2010	171
9	Dominant missense mutations in ABCC9 cause Cantú syndrome Nature Genetics ·Magdaléna Harakaľová, J. J. T. van Harssel, Paulien A. Terhal, Stef van Lieshout, Karen J. Duran, Ivo J. Renkens, David J. Amor, Louise C. Wilson	2012	166
10	Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Genetics in Medicine ·Lisa Ewans, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee	2018	146
11	Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years PEDIATRICS ·Bridget M Wilcken, Marion R. Haas, Pamela Joy, Veronica C. Wiley, Francis Gerard Bowling, Kevin H Carpenter, John Christodoulou, David M. Cowley	2009	140
12	Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II Human Mutation ·Monique M. P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer	2003	134
13	α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects Human Molecular Genetics ·Javier T Granados-Riveron, Tushar K. Ghosh, Mark Pope, Frances A Bu'Lock, Christopher Thornborough, Jacqueline Eason, Edwin Philip Kirk, Diane Fatkin	2010	128
14	Advances in the Genetics of Congenital Heart Disease Journal of the American College of Cardiology ·Gillian M. Blue, Edwin Philip Kirk, Eleni Giannoulatou, Gary F. Sholler, Sally L. Dunwoodie, Richard Paul Harvey, David Scott Winlaw	2017	124
15	Rapamycin treatment for a child with germline PTEN mutation Nature Clinical Practice Oncology ·Deborah J. Marsh, Toby N. Trahair, Janet L. Martin, Wey Yeeng Chee, Jan L Walker, Edwin Philip Kirk, Robert C. Baxter, Glenn M. Marshall	2008	107
16	Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate The American Journal of Human Genetics ·Liza L. Cox, Timothy C. Cox, Lina M. Moreno Uribe, Ying Zhu, Chika T. Richter, Nichole Nidey, Jennifer M. Standley, Mei Deng	2018	99
17	A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures Cell ·Vincenzo Alessandro Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda M. Koire, Lauren See, Chun‐An Chen	2018	98
18	Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes Human Molecular Genetics ·Sze Chern Lim, Martin Friemel, Justine E. Marum, Elena J. Tucker, Damien L. Bruno, Lisa G. Riley, John Christodoulou, Edwin Philip Kirk	2013	96
19	Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness Molecular Genetics & Genomic Medicine ·Elizabeth E. Palmer, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo A. Sampaio	2018	92
20	Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome Journal of Medical Genetics ·Tiong Yang Tan, Salim F. Aftimos, Lisa C. Worgan, Rachel Susman, Michael D. Wilson, Sondhya Ghedia, Edwin Philip Kirk, Donald R. Love	2009	86

About Edwin Philip Kirk

Edwin Philip Kirk is a scholar working on Genetics, Clinical Biochemistry, Molecular Biology, Pediatrics, Perinatology and Child Health and Pulmonary and Respiratory Medicine, having authored 167 papers that have together received 6.1k indexed citations. Recurring topics across this work include Congenital heart defects research (23 papers), Genomic variations and chromosomal abnormalities (18 papers), Genomics and Rare Diseases (18 papers), Metabolism and Genetic Disorders (15 papers), Prenatal Screening and Diagnostics (14 papers), Congenital Heart Disease Studies (13 papers), Mitochondrial Function and Pathology (12 papers) and Cystic Fibrosis Research Advances (12 papers). The work is most often cited by research in Clinical Biochemistry (518 citations), Genetics (1.6k citations), Molecular Biology (2.9k citations), Immunology (691 citations) and Genetics (281 citations). Edwin Philip Kirk has collaborated with scholars based in Australia, United States and United Kingdom. Frequent co-authors include Richard Paul Harvey, David Scott Winlaw, Gary F. Sholler, Gillian M. Blue, Michael Patrick Feneley, Sally L. Dunwoodie, Diane Fatkin, Avihu Boneh, Bernard S. Kaplan and M. Buddles. Their work appears in journals such as European Journal of Human Genetics, Genetics in Medicine, The American Journal of Human Genetics, Prenatal Diagnosis and 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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Edwin Philip Kirk

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Edwin Philip Kirk

Edwin Philip Kirk's Hit Papers

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