Sarju Mehta - Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust

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论文共 71 篇作者统计合作学者相似作者

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Genetic Basis and Imaging Findings of Neurofibromatosis 1 and Other Somatic Overgrowth Disorders

Orsolya Vittay, Joseph Christopher,Sarju G. Mehta,Andoni P. Toms

Skeletal Radiologypp.1-9, (2024)

引用0浏览0WOS引用

Abrogation of MAP4K4 Protein Function Causes Congenital Anomalies in Humans and Zebrafish

SCIENCE ADVANCESno. 17 (2023)

引用2浏览0WOSSCIENCE引用

The impact of germline inversions in the rare-disease arm of the 100,000 Genomes Project

Jing Yu,Alistair Pagnamenta,Susan Walker,Benito Banos-Pinero, Mark Rogers,Jackie Cook,Mohamed Wafik, Ellie Hay,Detlef Bockenhauer,Adam Jackson,Emma Clement,Louise Wilson, Paul Brennan,Nayana Lahiri,Meriel McEntagart,Anirban Majumdar, Smrithi Devaiah,Peter Risby,Fleur Van Dijk,Siddharth Banka,Ed Blair,Andrew Wilkie,Sarju Mehta,Kassim Javaid,Sarah Smithson,Jenny Taylor

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 56-57

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Clinical genetics（2023）

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Alkuraya-Kucinskas syndrome: novel compound heterozygous KIAA1109 variants in two siblings with this recently delineated disorder of brain development

Matina Prapa,Suzanna Dunkerton, Jeremy Brockelsby,Nishigandh Deole,Pooja Harijan, Marion Bohatschek,Elspeth Whitby,Joan Paterson,Soo-Mi Park,Sarju G. Mehta

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Conclusion of Diagnostic Odysseys Due to Inversions Disrupting GLI3 and FBN1

Alistair T. Pagnamenta,Jing Yu,Julie Evans,Philip Twiss,Amaka C. Offiah,Mohamed Wafik,Sarju G. Mehta, Mohammed K. Javaid,Sarah F. Smithson,Jenny C. Taylor

Journal of medical genetics（2022）

引用7浏览0WOS引用

SMAD3 Mutation in LDS3 Causes Bone Fragility by Impairing the TGF-β Pathway and Enhancing Osteoclastogenesis

Ahmed El-Gazzar,Heeseog Kang,Nadja Fratzl-Zelman,Emma Webb,Aileen M. Barnes,Milena Jovanovic,Sarju G. Mehta,Vipan Datta,Vrinda Saraff,Ryan K. Dale,Frank Rauch,Joan C. Marini,Wolfgang Hoegler

Bone reports（2022）

引用3浏览0WOS引用

An HNRNPK-specific DNA Methylation Signature Makes Sense of Missense Variants and Expands the Phenotypic Spectrum of Au-Kline Syndrome

Sanaa Choufani,Vanda McNiven,Cheryl Cytrynbaum,Maryam Jangjoo,Margaret P. Adam,Hans T. Bjornsson,Jacqueline Harris,David A. Dyment,Gail E. Graham,Marjan M. Nezarati,Ritu B. Aul,Claudia Castiglioni,Jeroen Breckpot,Koen Devriendt,Helen Stewart,Benito Banos-Pinero,Sarju Mehta,Richard Sandford,Carolyn Dunn,Remi Mathevet,Lionel van Maldergem,Juliette Piard,Elise Brischoux-Boucher,Antonio Vitobello,Laurence Faivre,Marie Bournez, Frederic Tran-Mau,Isabelle Maystadt,Alberto Fernandez-Jaen,Sara Alvarez,Irene Diez Garcia-Prieto,Fowzan S. Alkuraya,Hessa S. Alsaif,Zuhair Rahbeeni,Karen El-Akouri,Mariam Al-Mureikhi,Rebecca C. Spillmann,Vandana Shashi,Pedro A. Sanchez-Lara,John M. Graham,Amy Roberts,Odelia Chorin,Gilad D. Evrony,Minna Kraatari-Tiri,Tracy Dudding-Byth,Anamaria Richardson,David Hunt,Laura Hamilton,Sarah Dyack,Bryce A. Mendelsohn, Nicolas Rodriguez,Rosario Sanchez-Martinez,Jair Tenorio-Castano,Julian Nevado,Pablo Lapunzina,Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues,Lina Quteineh,A. Micheil Innes,Antonie D. Kline,P. Y. Billie Au,Rosanna Weksberg

AMERICAN JOURNAL OF HUMAN GENETICSno. 10 (2022): 1867-1884

引用5浏览0WOS引用

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Yanick J. Crow,Heather Marshall,Gillian Rice,Luis Seabra,Emma M. Jenkinson,Kristin Baranano,Roberta Battini,Andrea Berger,Edward Blair,Thomas Blauwblomme,Francois Bolduc, Natalie Boddaert,Johannes Buckard,Heather Burnett,Sophie Calvert,Roseline Caumes,Andy Cheuk-Him Ng,Diana Chiang,David B. Clifford,Duccio M. Cordelli,Anna Burca,Natasha Demic,Isabelle Desguerre,Liesbeth De Waele,Alessio Di Fonzo,S. Richard Dunham,Sarah Dyack,Frances Elmslie,Mickael Ferrand, Gemma Fisher,Ehsan Ghayoor Karimiani,Jamal Ghoumid,Frances Gibbon,Himanshu Goel,Hilde T. Hilmarsen,Imelda Hughes,Anu Jacob,Elizabeth A. Jones,Ram Kumar,Richard J. Leventer,Shelley MacDonald,Reza Maroofian,Sarju G. Mehta,Imke Metz,Edoardo Monfrini, Daniela Neumann,Michael Noetzel,Mary O'Driscoll,Katrin Ounap,Axel Panzer,Sumit Parikh,Prab Prabhakar,Francis Ramond,Richard Sandford,Russell Saneto,Calvin Soh,Chloe A. Stutterd,Gopinath M. Subramanian,Kevin Talbot,Rhys H. Thomas,Camilo Toro,Renaud Touraine,Emma Wakeling,Evangeline Wassmer,Andrea Whitney,John H. Livingston,Raymond T. O'Keefe,Andrew P. Badrock

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2021）

引用14浏览0WOS引用

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