Edwin P Kirk

Affiliations

Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au.
Genetics Laboratory, NSW Health Pathology East, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au.
School of Women's and Children's Health, UNSW Medicine, Sydney, New South Wales, Australia. Edwin.kirk@health.nsw.gov.au.

Publications (6)

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Kristine Barlow-Stewart , Arthavan Selvanathan , Sarah Josephi-Taylor , Lisa Worgan , Sulekha Rajagopalan , Mark J Cowley , Velimir Gayevskiy , Alan Bittles , Leslie Burnett , George Elakis , William Lo , Michael Buckley , Alison Colley , Tony Roscioli

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Human mutation

Avec: Timothy C Cox , Andrew C Lidral , Jason C McCoy , Huan Liu , Liza L Cox , Ying Zhu , Ryan D Anderson , Lina M Moreno Uribe , Deepti Anand , Mei Deng , Chika T Richter , Nichole L Nidey , Jennifer M Standley , Elizabeth E Blue , Jessica X Chong , Joshua D Smith , Hanka Venselaar , Katy N Krahn , Hans van Bokhoven , Huiqing Zhou , Robert A Cornell , Ian A Glass , Michael J Bamshad , Deborah A Nickerson , Jeffrey C Murray , Salil A Lachke , Thomas B Thompson , Michael F Buckley , Tony Roscioli

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

American journal of human genetics

Avec: Elizabeth E Palmer , Seungbeom Hong , Fatema Al Zahrani , Mais O Hashem , Fajr A Aleisa , Heba M Jalal Ahmed , Tejaswi Kandula , Rebecca Macintosh , Andre E Minoche , Clare Puttick , Velimir Gayevskiy , Alexander P Drew , Mark J Cowley , Marcel Dinger , Jill A Rosenfeld , Rui Xiao , Megan T Cho , Suliat F Yakubu , Lindsay B Henderson , Maria J Guillen Sacoto , Amber Begtrup , Muddathir Hamad , Marwan Shinawi , Marisa V Andrews , Marilyn C Jones , Kristin Lindstrom , Ruth E Bristol , Saima Kayani , Molly Snyder , María Mercedes Villanueva , Angeles Schteinschnaider , Laurence Faivre , Christel Thauvin , Antonio Vitobello , Tony Roscioli , Ann Bye , Jasmeen Merzaban , Łukasz Jaremko , Mariusz Jaremko , Rani K Sachdev , Fowzan S Alkuraya , Stefan T Arold

Personal genomic screening: How best to facilitate preparedness of future clients.

European journal of medical genetics

Avec: Jane Fleming , Bronwyn Terrill , Marie Dziadek , Tony Roscioli , Kristine Barlow-Stewart

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

Journal of genetic counseling

Avec: Sarah Josephi-Taylor , Kristine Barlow-Stewart , Arthavan Selvanathan , Tony Roscioli , Alan Bittles , Bettina Meiser , Lisa Worgan , Sulekha Rajagopalan , Alison Colley ,

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Dorothy K Grange , Helen I Roessler , Conor McClenaghan , Karen Duran , Kathleen Shields , Maria S Remedi , Nine V A M Knoers , Jin-Moo Lee , Ingrid Scurr , Sarah F Smithson , Gautam K Singh , Mieke M van Haelst , Colin G Nichols , Gijs van Haaften

Réseau de co-auteurs

Tony Roscioli 5 collaborations

Kristine Barlow-Stewart 3 collaborations

Arthavan Selvanathan 2 collaborations

Sarah Josephi-Taylor 2 collaborations

Lisa Worgan 2 collaborations

Sulekha Rajagopalan 2 collaborations

Mark J Cowley 2 collaborations

Velimir Gayevskiy 2 collaborations

Alan Bittles 2 collaborations

Alison Colley 2 collaborations

Leslie Burnett 1 collaboration

George Elakis 1 collaboration

William Lo 1 collaboration

Michael Buckley 1 collaboration

Timothy C Cox 1 collaboration

Andrew C Lidral 1 collaboration

Jason C McCoy 1 collaboration

Huan Liu 1 collaboration

Liza L Cox 1 collaboration

Ying Zhu 1 collaboration

Ryan D Anderson 1 collaboration

Lina M Moreno Uribe 1 collaboration

Deepti Anand 1 collaboration

Mei Deng 1 collaboration

Chika T Richter 1 collaboration

Nichole L Nidey 1 collaboration

Jennifer M Standley 1 collaboration

Elizabeth E Blue 1 collaboration

Jessica X Chong 1 collaboration

Joshua D Smith 1 collaboration

Hanka Venselaar 1 collaboration

Katy N Krahn 1 collaboration

Hans van Bokhoven 1 collaboration

Huiqing Zhou 1 collaboration

Robert A Cornell 1 collaboration

Ian A Glass 1 collaboration

Michael J Bamshad 1 collaboration

Deborah A Nickerson 1 collaboration

Jeffrey C Murray 1 collaboration

Salil A Lachke 1 collaboration

Thomas B Thompson 1 collaboration

Michael F Buckley 1 collaboration

Elizabeth E Palmer 1 collaboration

Seungbeom Hong 1 collaboration

Fatema Al Zahrani 1 collaboration

Mais O Hashem 1 collaboration

Fajr A Aleisa 1 collaboration

Heba M Jalal Ahmed 1 collaboration

Tejaswi Kandula 1 collaboration

Rebecca Macintosh 1 collaboration

Andre E Minoche 1 collaboration

Clare Puttick 1 collaboration

Alexander P Drew 1 collaboration

Marcel Dinger 1 collaboration

Jill A Rosenfeld 1 collaboration

Rui Xiao 1 collaboration

Megan T Cho 1 collaboration

Suliat F Yakubu 1 collaboration

Lindsay B Henderson 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Amber Begtrup 1 collaboration

Muddathir Hamad 1 collaboration

Marwan Shinawi 1 collaboration

Marisa V Andrews 1 collaboration

Marilyn C Jones 1 collaboration

Kristin Lindstrom 1 collaboration

Ruth E Bristol 1 collaboration

Saima Kayani 1 collaboration

Molly Snyder 1 collaboration

María Mercedes Villanueva 1 collaboration

Angeles Schteinschnaider 1 collaboration

Laurence Faivre 1 collaboration

Christel Thauvin 1 collaboration

Antonio Vitobello 1 collaboration

Ann Bye 1 collaboration

Jasmeen Merzaban 1 collaboration

Łukasz Jaremko 1 collaboration

Mariusz Jaremko 1 collaboration

Rani K Sachdev 1 collaboration

Fowzan S Alkuraya 1 collaboration

Stefan T Arold 1 collaboration

Jane Fleming 1 collaboration

Bronwyn Terrill 1 collaboration

Marie Dziadek 1 collaboration

Bettina Meiser 1 collaboration

Dorothy K Grange 1 collaboration

Helen I Roessler 1 collaboration

Conor McClenaghan 1 collaboration

Karen Duran 1 collaboration

Kathleen Shields 1 collaboration

Maria S Remedi 1 collaboration

Nine V A M Knoers 1 collaboration

Jin-Moo Lee 1 collaboration

Ingrid Scurr 1 collaboration

Sarah F Smithson 1 collaboration

Gautam K Singh 1 collaboration

Mieke M van Haelst 1 collaboration

Colin G Nichols 1 collaboration

Gijs van Haaften 1 collaboration