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个人简介
I am human (medical) molecular geneticist undertaking internationally leading research in the field of rare genetic disease and disease gene identification. The success of my work is evidenced by the number of novel disease genes identified by my group, now numbering >70, representing a significant achievement for a research group not affiliated with a large-scale genome sequencing program. These genetic discoveries have their foundation in international community based clinical-genetic research programs which I established ~20 years ago, in particular in Oman and in the Amish community (see www.WOHproject.com).
Throughout my career I have held numerous leadership and university administrative positions. This includes the award of the Birth Defects Foundation Personal Professorial Chair while serving as Departmental Head of the Genomics Research Centre (2010-2013, St George’s University London, UK), a core strategic component of an internationally-recognised and dynamic research led and teaching institution. I held this position until my departure to take up a Professorial Chair at the University of Exeter, where I am currently based.
Throughout my career I have placed a great emphasis on postgraduate training and development, which is borne out by my successful supervision and sponsorship of 52 postgraduate (27 PhD, 25 Masters) project-based students to date. Since my first independent academic appointment 21 years ago I have maintained a well-funded research group, raising >£5 million in grant income. The work of our research team is routinely published in leading high impact scientific journals, and I have to date co-authored >120 peer reviewed research manuscripts.
研究兴趣
论文共 215 篇作者统计合作学者相似作者
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Zain Dardas, Laura Harrold,Daniel G Calame,Claire G Salter,Takashi Kikuma, Kevin P Guay, Bobby G Ng,Kanae Sano, Ahmad K Saad, Haowei Du,Riccardo Sangermano, Sohil G Patankar,Shalini N Jhangiani,Semra Gürsoy,Mohamed S Abdel-Hamid, Mahmoud K H Ahmed,Reza Maroofian,Rauan Kaiyrzhanov,Kamran Salayev, Wendy D Jones, Ana Pérez Caballero, Lucy McGavin, Michael Spiller,Miranda Durkie, Nick Wood, Lauren O'Grady, Paula Goldenberg,Ann M Neumeyer,Amber Begtrup, Sherif F Abdel-Ghafar,Maha S Zaki,Hilde Van Esch,Jennifer E Posey, Olivia K Wenger, Ethan M Scott,Kinga M Bujakowska,Richard A Gibbs,Davut Pehlivan,Dana Marafi,Joseph S Leslie, Nishanka Ubeyratna,Jacob Day,Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim,Lama Alabdi, Fowzan S Alkuraya,Yoichi Takeda, Hudson H Freeze,Daniel N Hebert,James R Lupski,Andrew H Crosby,Emma L Baple
American journal of human geneticsno. 5 (2025): 1139-1157
Lettie E. Rawlins, Stuart J. Cannon,Muhannad Daana,Mina Zamani, Shamsul Ghani,Joseph S. Leslie,Nishanka Ubeyratna,Nasar Khan, Hamid Khan,Annarita Scardamaglia, Robin Cloarec, Shujaat Ali Khan, Muhammad Umair,Saeid Sadeghian,Hamid Galehdari,Almundher Al-Maawali,Adila Al-Kindi,Reza Azizimalamiri,Gholamreza Shariati, Faraz Ahmad,Amna Al-Futaisi, Pedro M. Rodriguez Cruz, Ainara Salazar-Villacorta, Moustapha Ndiaye,Amadou G. Diop, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid,Maha S. Zaki,Barbara Vona, Daniel Owrang, Abdullah M. Alhashem,Makram Obeid, Amjad Khan, Ahmad Beydoun,Marwan Najjar,Homa Tajsharghi,Giovanni Zifarelli, Peter Bauer, Wejdan S. Hakami, Amal M. Al Hashem, Rose-Mary N. Boustany, Lydie Burglen,Shahryar Alavi,Adam C. Gunning,Martina Owens,Ehsan G. Karimiani, Joseph G. Gleeson, Mathieu Milh,Somaya Salah, Jahangir Khan, Volker Haucke, Caroline F. Wright,Lucy Mcgavin,Orly Elpeleg, Muhammad I. Shabbir,Henry Houlden, Michael Ebner,Emma L. Baple,Andrew H. Crosby
GENETICS IN MEDICINEno. 2 (2025)
Francesco Saettini,Fabiola Guerra,Mario Mauri,Claire G. Salter,Margaret P. Adam,David Adams,Emma L. Baple,Estibaliz Barredo,Sanil Bhatia,Arndt Borkhardt,Alfredo Brusco,Cristina Bugarin,Clizia Chinello,Andrew H. Crosby,Precilla D’Souza,Vanna Denti,Grazia Fazio, Silvia Giuliani,Hye Sun Kuehn,Hassan Amel,Asha Elmi,Bernice Lo,Federica Malighetti,Giorgia Mandrile,Andrea Martín-Nalda,Heather C. Mefford,Daniele Moratto, Fatemeh Emam Mousavi,Zoe Nelson,Luis González Gutiérrez-Solana,Ellen Macnamara,Vincent Michaud,Melanie O’Leary,Lisa Pagani,Lisa Pavinato, Patricia VVelez Santamaria,Laura Planas-Serra,Manuel Quadri,Miquel Raspall-Chaure,Stefano Rebellato,Sergio D. Rosenzweig,Agathe Roubertie,Dirk Holzinger,Christin Deal,Catherine Walsh Vockley,Angela Maria Savino,Jennifer L.Stoddard,Holm H. Uhlig,Aurora Pujol, Fulvio Magni,Giuseppe Paglia,Gianni Cazzaniga,Rocco Piazza,Matteo Barberis,Andrea Biondi
Laura Mantoan Ritter, Nicholas M. P. Annear,Emma L. Baple, Leila Y. Ben-Chaabane,Istvan Bodi, Lauren Brosson, Jill E. Cadwgan, Bryn Coslett,Andrew H. Crosby,D. Mark Davies, Nicola Daykin, Stefanie Dedeurwaerdere, Christina Dühring Fenger,Elaine A. Dunlop, Frances V. Elmslie, Marie Girodengo,Sophie Hambleton,Anna C. Jansen, Simon R. Johnson, Kelly C. Kearley, John C. Kingswood, Liisi Laaniste,Katherine Lachlan,Andrew Latchford, Ralitsa R. Madsen, Sahar Mansour, Simeon R. Mihaylov, Louwai Muhammed, Claire Oliver, Tom Pepper, Lettie E. Rawlins, Ina Schim van der Loeff,Ata Siddiqui, Pooja Takhar,Katrina Tatton-Brown, Andrew R. Tee,Priyanka Tibarewal,Charlotte Tye, Sila K. Ultanir,Bart Vanhaesebroeck, Benjamin Zare, Deb K. Pal, Joseph M. Bateman
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-33
BMC Neurologyno. 1 (2024): 1-11
American Journal of Medical Genetics Part Ano. 7 (2024)
Jahangir Khan,Saaim Asif, Shamsul Ghani, Hamid Khan,Muhammad Waqar Arshad, Shujaat Ali khan,Siying Lin,Emma L. Baple,Claire Salter,Andrew H. Crosby,Lettie Rawlins,Muhammad Imran Shabbir
BMC Ophthalmologyno. 1 (2024)
Ilaria D'Atri, Emily-Rose Martin, Liming Yang, Elizabeth Sears,Emma Baple,Andrew H. Crosby,John K. Chilton,Asami Oguro-Ando
Cellsno. 12 (2024)
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作者统计
#Papers: 215
#Citation: 12245
H-Index: 51
G-Index: 108
Sociability: 7
Diversity: 4
Activity: 27
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