Assoc Prof Jamuar Saumya

MBBS, MRCPCH (UK), FAMS, FACMG

Senior Consultant

Profile

Associate Professor Saumya Jamuar is a Senior Consultant in the Genetics Service at KK Women’s and Children’s Hospital. He serves as the Director of the SingHealth Duke-NUS Institute of Precision Medicine and Lead Principal Investigator of the Singapore Childhood Undiagnosed Disease Programme. He was the Inaugural Head of SingHealth Duke-NUS Genomic Medicine Centre. He is the Chair of Chapter of Genomic Medicine, Academy of Medicine, Singapore and co-chair, Genetic and Genomic Testing and Research Review Group, Bioethics Advisory Committee.

After graduating from National University of Singapore, Assoc Prof Jamuar completed his Paediatric training at SingHealth, followed by his Clinical Genetics Fellowship at the Harvard Medical School Genetics Training Program, and worked as a post-doctoral fellow at the Christopher A. Walsh Lab at Harvard Medical School. He is actively involved in research and has presented at both local and international meetings and published in top tier journals including the New England Journal of Medicine and Nature Genetics. His research areas include genetic disorders, precision medicine and neurodevelopmental genetics. He was awarded the Young Investigator Award at the American Epilepsy Society meeting in 2013 and is also the recipient of the 2015 SingHealth Outstanding Young Researcher Award, 2018 SingHealth Outstanding Publish Award, 2021 National Medical Research Council Clinician Scientist Award and 2024 GCEO Outstanding Researcher Award.

He is actively involved in teaching and supervision at both the undergraduate and postgraduate levels, and is an active mentor for medical students and residents.

Education

Bachelor of Medicine, Bachelor of Surgery, National University of Singapore 2002
Paediatrics Specialist training, SingHealth, 2010
Clinical Genetics Residency, Harvard Medical School, 2013

Professional Appointments and Committee Memberships

Senior Consultant, KK Women’s and Children’s Hospital, 2018-Present
Director, SingHealth Duke-NUS Institute of Singapore, 2023-Present
Chair, Chapter of Genomic Medicine, Academy of Medicine, Singapore, 2023- Present
Co-Chair, Genetic and Genomic Testing and Research Review Group, Bioethics Advisory Committee, 2024- Present
Genomics co-Lead, SingHealth Duke-NUS Maternal Child Health Research Institute, 2022-Present
Associate Professor, Duke-NUS Medical School, 2024-present
Visiting Consultant, National Heart Centre Singapore, 2017-Present
Clinical Senior Lecturer, Yong Loo Lin School of Medicine, 2017-Present
Adjunct Assistant Professor, Lee Kong Chian School of Medicine, 2019-Present

Awards

GCEO Outstanding Research Award, SingHealth 2024
Team Research Award, SingHealth Duke-NUS, 2023
PS(Health) Award-Team, Ministry of Health, 2019
Publish Award (Outstanding), SingHealth, 2018
Travel Award, Jackson Lab, United States, 2016
Travel Award, ICHG, Japan 2016
Nurturing Clinical Scientist Scheme, SingHealth 2015
Distinguished Young Researcher Awar, SingHealth 2015
Publish Award (Outstanding), SingHealth 2015
Young Investigator Award, 2013
Long Service Award, KKH, 2013
Health Manpower Development Award, Ministry of Health, 2010
Travel Award, Asian Society of Paediatric Research, Japan, 2008
Excellent Service Award, SPRING, 2008

Research Interests

Medical genetics and rare disorders
Precision medicine
Neurodevelopmental genetics

Publications and Research Trials

Baynam G, Hartman AL, Letinturier MCV, Bolz-Johnson M, Carrion P, Grady AC, Dong X, Dooms M, Dreyer L, Graessner H, Granados A, Groza T, Houwink E, Jamuar SS, Vasquez-Loarte T, Tumiene B, Wiafe SA, Bjornson-Pennell H, Groft S.
Global health for rare diseases through primary care.
Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. PMID: 38876765.
JIF: 19.9 Times Cited: 0
Moynihan D, Monaco S, Ting TW, Narasimhalu K, Hsieh J, Kam S, Lim JY, Lim WK, Davila S, Bylstra Y, Balakrishnan ID, Heng M, Chia E, Yeo KK, Goh BK, Gupta R, Tan T, Baynam G, Jamuar SS.
Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
Sci Rep. 2024 Mar 1;14(1):5056. doi: 10.1038/s41598-024-55424-8. Erratum in: Sci Rep. 2024 May 2;14(1):10084. doi: 10.1038/s41598-024-60776-2. PMID: 38424111; PMCID: PMC10904843.
JIF: 3.8 Times Cited: 1
Gabrielle Stinton, Jane A Lieviant, Sylvia Kam, Jiin Ying Lim, Jasmine Chew-Yin Goh, Weng Khong Lim, Gareth Baynam, Tele Tan, Duc-Son Pham, Saumya Shekhar Jamuar
Clinical free text to HPO codes
Rare 2023;1:100007
JIF: NA Times Cited: 0
Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open. 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571.
JIF: 8.48, Times Cited: 22
Jamuar S, Palmer R, Dawkins H, Lee DW, Helmholz P, Baynam G.
3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.
PLOS Digit Health 2023 Mar 22;2(3):e0000090. doi: 10.1371/journal.pdig.0000090
JIF: NA; Times Cited: 0
Chan Sock Hoai; Bylstra Yasmin; Teo Jing Xian; Kuan Jyn Ling; Bertin Nicolas; Gonzalez-Porta Mar; Hebrard Maxime; Tirado-Magallanes Roberto; Tan Joanna Hui Juan; Jeyakani Justin; Li Zhihui; Chai Jin Fang; Chong Yap Seng; Davila Sonia; Goh Liuh Ling; Lee Eng Sing; Wong Eleanor; Wong Tien Yin; ; Prabhakar Shyam; Liu Jianjun; Cheng Ching-Yu; Eisenhaber Birgit; Karnani Neerja; Leong Khai Pang; Sim Xueling; Yeo Khung Keong; Chambers John C; Tai E-Shyong; Tan Patrick; Jamuar Saumya S; Ngeow Joanne; Lim Weng Khong
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Nature communications 2022; 13(1):6694-NA
JIF: 17.69; Times Cited: 21
Fong Nikki; Lim Jiin Ying; Cham Breana; Kam Sylvia; Goh Chew Yin; Wei Heming; Tan Yuen Ming; Law Hai Yang; Lim Weng Khong; Tan Ee Shien; Tan Ene Choo; Jamuar Saumya Shekhar
Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context.
Annals of the Academy of Medicine, Singapore 2022; 51(12):798-800 (Article; Published in Print)
JIF: 8.713; Times Cited: 0
Rehm Heidi L; Page Angela J H; Smith Lindsay; Adams Jeremy B; Alterovitz Gil; Babb Lawrence J; Barkley Maxmillian P; Baudis Michael; Beauvais Michael J S; Beck Tim; Beckmann Jacques S; Beltran Sergi; Bernick David; Bernier Alexander; Bonfield James K; Boughtwood Tiffany F; Bourque Guillaume; Bowers Sarion R; Brookes Anthony J; Brudno Michael; Brush Matthew H; Bujold David; Burdett Tony; Buske Orion J; Cabili Moran N; Cameron Daniel L; Carroll Robert J; Casas-Silva Esmeralda; Chakravarty Debyani; Chaudhari Bimal P; Chen Shu Hui; Cherry J Michael; Chung Justina; Cline Melissa; Clissold Hayley L; Cook-Deegan Robert M; Courtot Mélanie; Cunningham Fiona; Cupak Miro; Davies Robert M; Denisko Danielle; Doerr Megan J; Dolman Lena I; Dove Edward S; Dursi L Jonathan; Dyke Stephanie O M; Eddy James A; Eilbeck Karen; Ellrott Kyle P; Fairley Susan; Fakhro Khalid A; Firth Helen V; Fitzsimons Michael S; Fiume Marc; Flicek Paul; Fore Ian M; Freeberg Mallory A; Freimuth Robert R; Fromont Lauren A; Fuerth Jonathan; Gaff Clara L; Gan Weiniu; Ghanaim Elena M; Glazer David; Green Robert C; Griffith Malachi; Griffith Obi L; Grossman Robert L; Groza Tudor; Auvil Jaime M Guidry; Guigó Roderic; Gupta Dipayan; Haendel Melissa A; Hamosh Ada; Hansen David P; Hart Reece K; Hartley Dean Mitchell; Haussler David; Hendricks-Sturrup Rachele M; Ho Calvin W L; Hobb Ashley E; Hoffman Michael M; Hofmann Oliver M; Holub Petr; Hsu Jacob Shujui; Hubaux Jean-Pierre; Hunt Sarah E; Husami Ammar; Jacobsen Julius O; Jamuar Saumya S; Janes Elizabeth L; Jeanson Francis; Jené Aina; Johns Amber L; Joly Yann; Jones Steven J M; Kanitz Alexander; Kato Kazuto; Keane Thomas M; Kekesi-Lafrance Kristina; Kelleher Jerome; Kerry Giselle; Khor Seik-Soon; Knoppers Bartha M; Konopko Melissa A; Kosaki Kenjiro; Kuba Martin; Lawson Jonathan; Leinonen Rasko; Li Stephanie; Lin Michael F; Linden Mikael; Liu Xianglin; Udara Liyanage Isuru; Lopez Javier; Lucassen Anneke M; Lukowski Michael; Mann Alice L; Marshall John; Mattioni Michele; Metke-Jimenez Alejandro; Middleton Anna; Milne Richard J; Molnár-Gábor Fruzsina; Mulder Nicola; Munoz-Torres Monica C; Nag Rishi; Nakagawa Hidewaki; Nasir Jamal; Navarro Arcadi; Nelson Tristan H; Niewielska Ania; Nisselle Amy; Niu Jeffrey; Nyrönen Tommi H; O'Connor Brian D; Oesterle Sabine; Ogishima Soichi; Wang Vivian Ota; Paglione Laura A D; Palumbo Emilio; Parkinson Helen E; Philippakis Anthony A; Pizarro Angel D; Prlic Andreas; Rambla Jordi; Rendon Augusto; Rider Renee A; Robinson Peter N; Rodarmer Kurt W; Rodriguez Laura Lyman; Rubin Alan F; Rueda Manuel; Rushton Gregory A; Ryan Rosalyn S; Saunders Gary I; Schuilenburg Helen; Schwede Torsten; Scollen Serena; Senf Alexander; Sheffield Nathan C; Skantharajah Neerjah; Smith Albert V; Sofia Heidi J; Spalding Dylan; Spurdle Amanda B; Stark Zornitza; Stein Lincoln D; Suematsu Makoto; Tan Patrick; Tedds Jonathan A; Thomson Alastair A; Thorogood Adrian; Tickle Timothy L; Tokunaga Katsushi; Törnroos Juha; Torrents David; Upchurch Sean; Valencia Alfonso; Guimera Roman Valls; Vamathevan Jessica; Varma Susheel; Vears Danya F; Viner Coby; Voisin Craig; Wagner Alex H; Wallace Susan E; Walsh Brian P; Williams Marc S; Winkler Eva C; Wold Barbara J; Wood Grant M; Woolley J Patrick; Yamasaki Chisato; Yates Andrew D; Yung Christina K; Zass Lyndon J; Zaytseva Ksenia; Zhang Junjun; Goodhand Peter; North Kathryn; Birney Ewan
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell genomics 2021; 1(2):1-33 (Article; Published in Print)
JIF: NA; Times Cited: 148
Shao Diane D; Straussberg Rachel; Ahmed Hind; Khan Amjad; Tian Songhai; Hill R Sean; Smith Richard S; Majmundar Amar J; Ameziane Najim; Neil Jennifer E; Yang Edward; Al Tenaiji Amal; Jamuar Saumya S; Schlaeger Thorsten M; Al-Saffar Muna; Hovel Iris; Al-Shamsi Aisha; Basel-Salmon Lina; Amir Achiya Z; Rento Lariza M; Lim Jiin Ying; Ganesan Indra; Shril Shirlee; Evrony Gilad; Barkovich A James; Bauer Peter; Hildebrandt Friedhelm; Dong Min; Borck Guntram; Beetz Christian; Al-Gazali Lihadh; Eyaid Wafaa; Walsh Christopher A
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genetics in medicine : official journal of the American College of Medical Genetics 2021; 23(6):1158-1162 (Article; Published in Print)
JIF: 10.435; Times Cited: 18
Bylstra Yasmin; Lim Weng Khong; Kam Sylvia; Tham Koei Wan; Wu R Ryanne; Teo Jing Xian; Davila Sonia; Kuan Jyn Ling; Chan Sock Hoai; Bertin Nicolas; Yang Cheng Xi; Rozen Steve; Teh Bin Tean; Yeo Khung Keong; Cook Stuart Alexander; Jamuar Saumya Shekhar; Ginsburg Geoffrey S; Orlando Lori A; Tan Patrick
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
Genome medicine 2021; 13(1):3-NA (Article; E-Published Only (Never in Print)/E-collection)
JIF: 10.675; Times Cited: 20
Bhatia Neha S; Lim Jiin Ying; Bonnard Carine; Kuan Jyn-Ling; Brett Maggie; Wei Heming; Cham Breana; Chin Huilin; Bosso-Lefevre Celia; Dharuman Perumal; Escande-Beillard Nathalie; Devasia Arun George; Goh Chew Yin Jasmine; Kam Sylvia; Liew Wendy Kein-Meng; Liew Woei Kang; Lin Grace; Jain Kanika; Ng Alvin Yu-Jin; Subramanian Deepa; Xie Min; Tan Yuen-Ming; Tawari Nilesh R; Tiang Zenia; Ting Teck Wah; Tohari Sumanty; Tong Cheuk Ka; Lezhava Alexander; Ng Sarah B; Law Hai Yang; Venkatesh Byrappa; Tomar Swati; Sethi Raman; Tan Grace; Shanmugasundaram Arthi; Goh Denise Li-Meng; Lai Poh San; Lai Angeline; Tan Ee Shien; Ng Ivy; Reversades Bruno; Tan Ene Choo; Foo Roger; Jamuar Saumya Shekhar
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Archives of disease in childhood 2021; 106(1):31-37 (Article; Published in Print)
JIF: 3.258; Times Cited: 20
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Nature Communications 2020; 11(1):595-N.A. (Article; E-Published Only (Never in Print)/E-collection)
JIF: 11.880; Times Cited: 42
Pua Chee Jian; Tham Nevin; Chin Calvin W L; Walsh Roddy; Khor Chiea Chuen; Toepfer Christopher N; Repetti Giuliana G; Garfinkel Amanda C; Ewoldt Jourdan F; Cloonan Paige; Chen Christopher S; Lim Shi Qi; Cai Jiashen; Loo Li Yang; Kong Siew Ching; Chiang Charleston W K; Whiffin Nicola; de Marvao Antonio; Lio Pei Min; Hii An An; Yang Cheng Xi; Le Thu Thao; Bylstra Yasmin; Lim Weng Khong; Teo Jing Xian; Padilha Kallyandra; Silva Gabriela V; Pan Bangfen; Govind Risha; Buchan Rachel J; Barton Paul J R; Tan Patrick; Foo Roger; Yip James W L; Wong Raymond C C; Chan Wan Xian; Pereira Alexandre C; Tang Hak Chiaw; Jamuar Saumya Shekhar; Ware James S; Seidman Jonathan G; Seidman Christine E; Cook Stuart A
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in and That Are Common in Chinese Patients.
Circulation. Genomic and precision medicine 2020; 13(5):424-434 (Article; Published in Print)
JIF: 3.43; Times Cited: 25
Tan Enrica Ek; Hopkins Richard A; Lim Chrissie K; Jamuar Saumya S; Ong Christina; Thoon Koh C; Koh Mark Ja; Shin Eun Mong; Lian Derrick Wq; Weerasooriya Madhushanee; Lee Christopher Zw; Soetedjo Andreas Alvin Pumomo; Lim Chang Siang; Au Veonice B; Chua Edmond; Lee Hui Yin; Jones Leigh Ann; James Sharmy S; Kaliaperumal Nivashini; Kwok Jeffery; Tan Ee Shien; Thomas Biju; Wu Lynn Xue; Ho Lena; Fairhurst Anna Marie; Ginhoux Florent; Teo Adrian Kk; Zhang Yong Liang; Ong Kok Huar; Yu Weimiao; Venkatesh Byrappa; Tergaonkar Vinay; Reversade Bruno; Chin Keh Chuang; Tan Ah Moy; Liew Woei Kang; Connolly John E
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.
The Journal of clinical investigation 2020; 130(11):5817-5832 (Article; Published in Print)
JIF: 11.864; Times Cited: 10
Bylstra Y, Davila S, Lim WK, Wu R, Teo JX, Kam S, Lysaght T, Rozen S, Teh BT, Yeo KK, Cook SA, Tan P, Jamuar SS
Implementation of genomics in medical practice to deliver precision medicine for an Asian population NPJ Genom Med 2019; 4:12-N.A. (Article; E-Published Only (Never in Print)/E-collection) JIF: 7.355; Times Cited: 2
Hulsen T, Jamuar SS, Moody AR, Karnes JH, Varga O, Hedensted S, Spreafico R, Hafler DA, McKinney EF
From Big Data to Precision Medicine.
Front Med (Lausanne) 2019; 6:34-N.A. (Article; E-Published Only (Never in Print)/E-collection)
JIF: 1.847; Times Cited: 401
Bylstra Yasmin; Kuan Jyn Ling; Lim Weng Khong; Bhalshankar Jaydutt Digambar; Teo Jing Xian; Davila Sonia; Teh Bin Tean; Rozen Steve; Tan Ene-Choo; Liew Wendy Kein Meng; Yeo Khung Keong; Tan Patrick; Saw Seang Mei; Cheng Ching-Yu; Cook Stuart; Foo Roger; Jamuar Saumya Shekhar
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2019; 21(1):207-212 (Article; Published in Print)
JIF: 8.683; Times Cited: 4
Gueneau Lucie; Fish Richard J; Shamseldin Hanan E; Voisin Norine; Tran Mau-Them Frédéric; Preiksaitiene Egle; Monroe Glen R; Lai Angeline; Putoux Audrey; Allias Fabienne; Ambusaidi Qamariya; Ambrozaityte Laima; Cimbalistienė Loreta; Delafontaine Julien; Guex Nicolas; Hashem Mais; Kurdi Wesam; Jamuar Saumya Shekhar; Ying Lim J; Bonnard Carine; Pippucci Tommaso; Pradervand Sylvain; Roechert Bernd; van Hasselt Peter M; Wiederkehr Michaël; Wright Caroline F; ; Xenarios Ioannis; van Haaften Gijs; Shaw-Smith Charles; Schindewolf Erica M; Neerman-Arbez Marguerite; Sanlaville Damien; Lesca Gaëtan; Guibaud Laurent; Reversade Bruno; Chelly Jamel; Kučinskas Vaidutis; Alkuraya Fowzan S; Reymond Alexandre
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
American journal of human genetics 2018; 102(1):116-132 (Article; Published in Print)
JIF: 9.025; Times Cited: 55
Marsh Ashley P L; Edwards Timothy J; Galea Charles; Cooper Helen M; Engle Elizabeth C; Jamuar Saumya S; Méneret Aurélie; Moutard Marie-Laure; Nava Caroline; Rastetter Agnès; Robinson Gail; Rouleau Guy; Roze Emmanuel; Spencer-Smith Megan; Trouillard Oriane; Billette de Villemeur Thierry; Walsh Christopher A; Yu Timothy W; ; Heron Delphine; Sherr Elliott H; Richards Linda J; Depienne Christel; Leventer Richard J; Lockhart Paul J
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Human mutation 2018; 39(1):23-39 (Article; Published in Print)
JIF: 5.359; Times Cited: 64
Jamuar Saumya S; Schmitz-Abe Klaus; D'Gama Alissa M; Drottar Marie; Chan Wai-Man; Peeva Maya; Servattalab Sarah; Lam Anh-Thu N; Delgado Mauricio R; Clegg Nancy J; Zayed Zayed Al; Dogar Mohammad Asif; Alorainy Ibrahim A; Jamea Abdullah Abu; Abu-Amero Khaled; Griebel May; Ward Wendy; Lein Ed S; Markianos Kyriacos; Barkovich A James; Robson Caroline D; Grant P Ellen; Bosley Thomas M; Engle Elizabeth C; Walsh Christopher A; Yu Timothy W
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Nature genetics 2017; 49(4):606-612 (Article; Published in Print)
JIF: 27.125; Times Cited: 64
Jamuar Saumya Shekhar; Kuan Jyn Ling; Brett Maggie; Tiang Zenia; Tan Wilson Lek Wen; Lim Jiin Ying; Liew Wendy Kein Meng; Javed Asif; Liew Woei Kang; Law Hai Yang; Tan Ee Shien; Lai Angeline; Ng Ivy; Teo Yik Ying; Venkatesh Byrappa; Reversade Bruno; Tan Ene Choo; Foo Roger Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
EBioMedicine 2016; 5:211-266 (Article; E-Published Only (Never in Print)/E-collection)
JIF: 6.680; Times Cited: 31
D'Gama Alissa M; Pochareddy Sirisha; Li Mingfeng; Jamuar Saumya S; Reiff Rachel E; Lam Anh-Thu N; Sestan Nenad; Walsh Christopher A Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
Neuron 2015; 88(5):910-977 (Article; Published in Print)
JIF: 14.403; Times Cited: 160
Jamuar Saumya S; Lam Anh-Thu N; Kircher Martin; D'Gama Alissa M; Wang Jian; Barry Brenda J; Zhang Xiaochang; Hill Robert Sean; Partlow Jennifer N; Rozzo Aldo; Servattalab Sarah; Mehta Bhaven K; Topcu Meral; Amrom Dina; Andermann Eva; Dan Bernard; Parrini Elena; Guerrini Renzo; Scheffer Ingrid E; Berkovic Samuel F; Leventer Richard J; Shen Yiping; Wu Bai Lin; Barkovich A James; Sahin Mustafa; Chang Bernard S; Bamshad Michael; Nickerson Deborah A; Shendure Jay; Poduri Annapurna; Yu Timothy W; Walsh Christopher A
Somatic mutations in cerebral cortical malformations.
The New England journal of medicine 2014; 371(8):733-743 (Article; Published in Print)
JIF: 70.670; Times Cited: 373

Research Trials

Understanding the Genetics of Mendelian Disorders: Singapore Undiagnosed Programme, 2014- present
Characterizing facial variations of individuals of Asian ancestry to aid in diagnostics of patients with genetic and rare diseases and syndromes, 2021- Present
Prospective Clinical Assessment Study In Children With Achondroplasia: The Propel Trial, 2023- present
A Phase 3, Multicenter, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Infigratinib in Children 3 to <18 Years of Age with Achondroplasia: PROPEL 3 - QBGJ398-303, 2024- present
Prospective Clinical Assessment Study in Children with Hypochondroplasia: ACCEL - QBGJ398-004