基本信息
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Bio
I have studied and taught the molecular genetic basis of human disease as a mechanism to both understand human developmental processes and, potentially, to provide avenues for therapies for patients with these disorders. In the course of my work, I have contributed to the identification of genetic mechanisms involved in the disorders of Friedreich’s ataxia, X-linked cleft palate, severe neural tube defects and rare variants underlying sudden cardiac death.
Research Interests
Papers共 51 篇Author StatisticsCo-AuthorSimilar Experts
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Anne Guimier,Melanie T. Achleitner,Anne Moreau de Bellaing,Matthew Edwards,Loic de Pontual,Kirti Mittal,Kyla E. Dunn,Megan E. Grove,Carolyn J. Tysoe, Clemantino Dimartino,Jessie Cameron,Anil Kanthi,Anju Shukla,Florence van den Broek,Diptendu Chatterjee,Charlotte L. Alston,Charlotte V. Knowles,Laura Brett,Jan A. Till,Tessa Homfray,Paul French,Georgia Spentzou,Noha A. Elserafy,Kate S. Lichkus,Bindu P. Sankaran,Hannah L. Kennedy,Peter M. George,Alexa Kidd,Saskia B. Wortmann,Dianna G. Fisk,Tamara T. Koopmann,Muhammad A. Rafiq,Jason D. Merker,Sumith Parikh,Priyanka Ahimaz,Robert G. Weintraub,Alan S. Ma,Christian Turner,Carolyn J. Ellaway,Liza K. Phillips,David R. Thorburn,Wendy K. Chung,Sajel L. Kana,Ona M. Faye-Petersen,Michelle L. Thompson,Alexandre Janin,Karen McLeod,Ruth McGowan,Robert McFarland,Katta M. Girisha,Deborah J. Morris-Rosendahl,Anna C. E. Hurst,Claire L. S. Turner,Robert M. Hamilton,Robert W. Taylor,Fanny Bajolle,Christopher T. Gordon,Jeanne Amiel,Johannes A. Mayr,Kit Doudney
GENETICS IN MEDICINEno. 4 (2022)
Anne Guimier,Melanie T. Achleitner,Anne Moreau de Bellaing,Matthew Edwards,Loic de Pontual,Kirti Mittal,Kyla E. Dunn, Megan E. Grove,Carolyn J. Tysoe,Clemantine Dimartino,Jessie Cameron,Anil Kanthi,Anju Shukla,Florence van den Broek,Diptendu Chatterjee,Charlotte L. Alston,Charlotte V. Knowles,Laura Brett,Jan A. Till,Tessa Homfray,Paul French,Georgia Spentzou,Noha A. Elserafy,Kate S. Lichkus,Bindu P. Sankaran,Hannah L. Kennedy,Peter M. George,Alexa Kidd,Saskia B. Wortmann,Dianna G. Fisk,Tamara T. Koopmann,Muhammad A. Rafiq,Jason D. Merker,Sumith Parikh,Priyanka Ahimaz,Robert G. Weintraub,Alan S. Ma,Christian Turner,Carolyn J. Ellaway,Liza K. Phillips,David R. Thorburn,Wendy K. Chung,Sajel L. Kana,Ona M. Faye-Petersen,Michelle L. Thompson,Alexandre Janin,Karen McLeod,Ruth McGowan,Robert McFarland,Katta M. Girisha,Deborah J. Morris-Rosendahl,Anna C. E. Hurst,Claire L. S. Turner,Robert M. Hamilton,Robert W. Taylor,Fanny Bajolle,Christopher T. Gordon,Jeanne Amiel,Johannes A. Mayr,Kit Doudney
K. Doudney,C. J. Lacey,P. G. Bridgman,R. T. Mulder, J. J. Zarifeh,B. Kimber,M. Cadzow,M. A. Black,T. R. Merriman,K. Lehnert, V. Bickley,J. F. Pearson,V. A. Cameron,M. A. Kennedy
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A. Moreau de Bellaing,A. Guimier,F. Bajolle,C. Turner, M. Grove, K. Dunn, G. Katta,I. Crozier, A. Kidd,J. Mayr,A. Rotig, JP. Di Rago,A. Delahodde,S. Lyonnet,H. Kennedy,K. Doudney,J. Amiel, C. Gordon, D. Bonnet
The New Zealand medical journalno. 1485 (2018): 88-89
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E. Phillips,K. Lim,T. Woodfield,M. J. Currie,K. Doudney, K. N. Russell,N. L. Mitchell,G. K. Barrell, D. N. Palmer, M. Sukhapure,K. Douglas, A. Fenton,R. Porter,S. E. Morton,J. Dickson,P. Docherty,G. M. Shaw,J. G. Chase,S. G. Yazdi,P. H. Geoghegan,P. D. Docherty
NEW ZEALAND MEDICAL JOURNALno. 1459 (2017): 79-81
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Author Statistics
#Papers: 50
#Citation: 1915
H-Index: 20
G-Index: 35
Sociability: 6
Diversity: 3
Activity: 5
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