Helen V. Firth

基本信息

Career Trajectory

Bio

Since 2004, Helen has collaborated with researchers at the Wellcome Sanger Institute and elsewhere to investigate how the application of new genomic technologies can improve the diagnosis of severe developmental disorders. Helen has been central to the development of the DECIPHER database and Deciphering Developmental Disorders (DDD) project.

Research Interests

Papers共 275 篇Author StatisticsCo-AuthorSimilar Experts

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Multiple and Novel Molecular Mechanisms in TUBA1A-related Tubulinopathy: Insights from Deep Clinical and Neuroradiological Phenotyping

James Fasham, Rucha Pandit, Adam T Higgins, Dowon Kim, Karl Austin-Muttitt, Anna V Derrick, Robert Gunn, Maya Matty,Nicola Ragge, Kate E Chandler, Gabriela E Jones,Mohnish Suri,Alison Kraus,Tabib Dabir, Katrina Stone, Wendy D Jones,Julia Rankin,James A Poulter, Marilena Elpidorou,Eamonn Sheridan,Colin A. Johnson,Helen V Firth,Siddharth Banka,Ruth Newbury-Ecob,Neeti Ghali, Andrew J Green,Shelagh Joss,Sahar Mansour,Pradeep Vasudevan, Michael J Parker,Jonathan GL Mullins, Adam G Thomas,Seo-Kyung Chung,Abhijit Dixit

medrxiv（2025）

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Investigating the Role of Common Cis-Regulatory Variants in Modifying Penetrance of Putatively Damaging, Inherited Variants in Severe Neurodevelopmental Disorders

Emilie M. Wigdor,Kaitlin E. Samocha,Ruth Y. Eberhardt,V. Kartik Chundru,Helen V. Firth,Caroline F. Wright,Matthew E. Hurles,Hilary C. Martin

SCIENTIFIC REPORTS（2024）

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Improving the Care of Children with GENetic Rare Disease: Observational Cohort Study (genroc): a Study Protocol

Karen Jaqueline Low, Amy Watford,Peter Blair,Ian Nabney,John Powell,Sarah L. Wynn,Julia Foreman,Helen Firth,Jenny Ingram

BMJ openno. 5 (2024): e085237-e085237

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16P11.2 Distal BP2-BP3 Deletions and SH2B1 Variants Are Associated with a Subtype of Obesity with Accelerated Metabolic Disease

Chiara Auwerx,Ruth Hanssen,Maarja Lepamets,Marie Sadler,Elana Henning,Julia Keogh,Rebecca Bounds,Miriam Smith,Helen Firth,Zoltan Kutalik,Sadaf Farooqi,Katherine Lawler,Alexandre Reymond

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 434-434

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Heterozygous Loss-of-function SMC3 Variants Are Associated with Variable Growth and Developmental Features

Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson, Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone

Human Genetics and Genomics Advances（2024）

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Loss of Transient Receptor Potential Channel 5 Causes Obesity and Postpartum Depression

Yongxiang Li,Tessa M. Cacciottolo,Na Yin,Yang He,Hesong Liu,Hailan Liu, Yuxue Yang,Elana Henning,Julia M. Keogh,Katherine Lawler,Edson Mendes de Oliveira,Eugene J. Gardner,Katherine A. Kentistou,Panayiotis Laouris,Rebecca Bounds,Ken K. Ong,John R. B. Perry,Ines Barroso,Longlong Tu,Jonathan C. Bean,Meng Yu,Kristine M. Conde,Mengjie Wang, Olivia Ginnard, Xing Fang, Lydia Tong,Junying Han, Tia Darwich, Kevin W. Williams,Yongjie Yang, Chunmei Wang,Shelagh Joss,Helen V. Firth,Yong Xu,I. Sadaf Farooqi

CELLno. 16 (2024)

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P570: Generating a Framework for Curating Mechanism of Disease in Monogenic Conditions: A Consensus Effort of the Gene Curation Coalition*

Marina DiStefano,Fowzan Alkuraya,Joanna Amberger,Christina Austin-Tse, Ola Austine,Marie Balzotti,Jonathan Berg,Elspeth Bruford,Alicia Byrne,Elena Cibrian-Uhalte,Alison Coffey,Helen Firth,Ada Hamosh,Sarah Hunt,Teri Klein, Catherine Kurtz,Sarah Leigh,Ivone Leong,Caterina Lucano,Sateesh Maddirevula

Genetics in Medicine Open (2024): 101476

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Federated Analysis of Autosomal Recessive Coding Variants in 29,745 Developmental Disorder Patients from Diverse Populations

V. Kartik Chundru,Zhancheng Zhang,Klaudia Walter,Sarah J. Lindsay,Petr Danecek,Ruth Y. Eberhardt,Eugene J. Gardner,Daniel S. Malawsky,Emilie M. Wigdor,Rebecca Torene,Kyle Retterer,Caroline F. Wright, Hildur Olafsdottir,Maria J. Guillen Sacoto,Akif Ayaz, Ismail Hakki Akbeyaz,Dilsad Tuerkdogan, Aaisha Ibrahim Al Balushi,Aida Bertoli-Avella,Peter Bauer,Emmanuelle Szenker-Ravi,Bruno Reversade,Kirsty Mcwalter,Eamonn Sheridan,Helen V. Firth,Matthew E. Hurles,Kaitlin E. Samocha, Vincent D. Ustach,Hilary C. Martin

NATURE GENETICS（2024）

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Consultant Clinical Geneticist

Papers共 275 篇Author StatisticsCo-AuthorSimilar Experts