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Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.
He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.
Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.
Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.
He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.
Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.
研究兴趣
论文共 218 篇作者统计合作学者相似作者
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A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon, Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo, Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann
medRxiv : the preprint server for health sciences (2024)
Disease models & mechanismsno. 6 (2024)
Peter J Houweling,Chrystal F Tiong, Leonit Kiriaev, Roberto Diaz-Pena, Patrick K Albers,Harrison Wood,Victoria Wyckelsma, Tegan Stait, Tomas Venckunas, Pedro Valenzuela, ADRIAN Castillo-Garcia, Marius Brazaitis,Yemima Berman, Jane T Seto,Hakan Westerblad,Monkol Lek,David Thorburn, Alejandro Lucía,Stewart Head,Kathryn N North
biorxiv(2024)
Shruthi Mohan,Shannon McNulty,Courtney Thaxton,Marwa Elnagheeb,Emma Owens,May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus,Svetlana Gorokhova, April Kennedy,Zhiyv Niu,Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad,Amanda R. Clause,Jacques S. Beckmann,Lucas Bronicki,Sandra T. Cooper,Vijay S. Ganesh,Peter B. Kang,Akanchha Kesari,Monkol Lek, Jennifer Levy,Laura Rufibach,Marco Savarese,Melissa J. Spencer,Volker Straub,Giorgio Tasca,Conrad C. Weihl
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2024)
Daniella H Hock,Nikeisha J Caruana,Liana N Semcesen, Nicole J Lake,Luke E Formosa,Sumudu SC Amarasekera, Tegan Stait,Simone Tregoning, Leah E Frajman,David RL Robinson, Megan Ball,Boris Reljic,Bryony Ryder,Mathew J Wallis,Anand Vasudevan, Cara Beck,Heidi Peters,Joy Lee, MitoMDT Diagnostic Network for Genomics and Omics,Vasiliki Karlaftis,Chantal Attard,Paul Monagle, Amanda Samarasinghe, Rosie Brown,Weimin Bi,Monkol Lek,Robert McFarland,Robert W Taylor, Michael T Ryan,Zornitza Stark,John Christodoulou,Alison G Compton,David R Thorburn,David A Stroud
medrxiv(2024)
Kaiyue Ma,Shushu Huang, Kenneth K. Ng, Nicole J. Lake,Soumya Joseph, Jenny Xu,Angela Lek, Lin Ge, Keryn G. Woodman, Katherine E. Koczwara,Justin Cohen,Vincent Ho, Christine L. O’Connor,Melinda A. Brindley,Kevin P. Campbell,Monkol Lek
Cell (2024)
Disease models & mechanismsno. 6 (2024)
Chao Zhang,Michael Rehman,Xin Tian,Steven Lim Cho Pei,Jianlei Gu,Thomas A Bell,Ke Dong,Ming Shen Tham,Yiqiang Cai, Zemeng Wei, Felix Behrens,Anton M Jetten,Hongyu Zhao,Monkol Lek,Stefan Somlo
Nature communicationsno. 1 (2024)
Rhett G. Marchant,Samantha J. Bryen,Melanie Bahlo,Anita Cairns,Katherine R. Chao,Alastair Corbett,Mark R. Davis,Vijay S. Ganesh,Roula Ghaoui,Kristi J. Jones,Andrew J. Kornberg,Monkol Lek,Christina Liang,Daniel G. MacArthur,Emily C. Oates,Anne O'Donnell-Luria,Gina L. O'Grady,Ikeoluwa A. Osei-Owusu,Haloom Rafehi,Stephen W. Reddel,Richard H. Roxburgh,Monique M. Ryan,Sarah A. Sandaradura, Liam W. Scott,Elise Valkanas,Ben Weisburd,Helen Young,Frances J. Evesson,Leigh B. Waddell,Sandra T. Cooper
Annals of Clinical and Translational Neurologyno. 5 (2024): 1250-1266
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作者统计
#Papers: 216
#Citation: 22885
H-Index: 49
G-Index: 151
Sociability: 8
Diversity: 0
Activity: 2
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