Helen V. Firth - Publications, H-index & Citations

Helen V. Firth

University of Exeter

73H指数

546论文数

2.4W被引数

收录论文 113

发表时间

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study 外显子测序的拷贝数变异分析是优化发育障碍诊断效率的有效方法——DDD-Africa研究

European Journal of Human Genetics

IF4.6

2026-07-09

OAAI

Nadja Louw; Prince Makay; Phelelani T. Mpangase; Barry Shingwenyana; Zandisiwe Goliath; Thirona Naicker; Laura M. Yates; Engela Honey; Gerrye Mubungu; Kris Van Den Bogaert; Helen V. Firth; Matthew E. Hurles; Prosper Lukusa Tshilobo; Koen Devriendt; Amanda Krause; Nadia Carstens; Aimé Lumaka; Zané Lombard

Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms q Gene2Phenotype: 结构化人类单基因疾病及致病机制的数据库

Journal of Molecular Biology

IF4.5

2026-07-01

PREAI

Hunt, Sarah E.; Lemos, Diana; Pericherla, Seeta Ramaraju; Austine-Orimoloye, Olanrewaju; Uhal, Elena Cibrian; Yates, T. Michael; Ansari, Morad; Thompson, Louise; Foreman, Julia; Simpson, T. Ian; Ware, James S.; Wright, Caroline F.; Freeberg, Mallory A.; Firth, Helen V.

Complex de novo structural variants are an underestimated cause of rare disorders 复杂的新发结构变异是罕见疾病的一个被低估的原因。

Nature Communications

IF15.7

2025-11-03

OAAI

Hyunchul Jung; Tsun-Po Yang; Susan Walker; Petr Danecek; O. Isaac Garcia-Salinas; Matthew D. C. Neville; Joseph Christopher; Isidro Cortés-Ciriano; Helen Firth; Aylwyn Scally; Matthew Hurles; Peter Campbell; Raheleh Rahbari

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders 探究早产与基因变异在罕见发育障碍背景下的相互作用

Genome Medicine

IF11.2

2025-11-01

OAAI

Olivia Wootton; Patrick Campbell; Sarah Richardson; Sarah J. Lindsay; Qin Qin Huang; Erwan Delage; Sana Amanat; Hilary S. Wong; Helen V. Firth; Matthew E. Hurles; Michael A. Simpson; Elizabeth J. Radford; Hilary C. Martin

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders LMSz方法——一种可自动化的、可扩展的构建基因特异性生长曲线的方法，适用于罕见疾病

European Journal of Human Genetics

IF4.6

2025-10-13

OAAI

Karen J. Low; Julia Foreman; Rachel J. Hobson; Hannah Kwuo; Elena Martinez-Cayuelas; Berta Almoguera; Purin Marin-Reina; Stefano G. Caraffi; Livia Garavelli; Emily Woods; Meena Balasubramanian; Allan Bayat; Charlotte W. Ockeloen; Caroline M. Wright; Helen V. Firth; Tim J. Cole

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease 系统性鉴定罕见病未诊断患者中8040例疾病致病启动子及非编码区变异

GENOME MEDICINE

IF11.2

2025-04-14

OAAI

Martin-Geary, Alexandra C.; Blakes, Alexander J. M.; Dawes, Ruebena; Findlay, Scott D.; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N.; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; Degoede, Christian G. E. L.; Anderson, Emily R.; Candler, Toby; Firth, Helen; Burge, Christopher B.; Sanders, Stephan J.; Ellingford, Jamie; Baralle, Diana; Whiffin, Nicola

Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome

HUMAN MUTATION

IF3.7

2025-01-30

OAAI

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison

EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024

NUCLEIC ACIDS RESEARCH

IF13.1

2024-11-28

OAAI

Thakur, Matthew; Brooksbank, Catherine; Finn, Robert D.; Firth, Helen, V; Foreman, Julia; Freeberg, Mallory; Gurwitz, Kim T.; Harrison, Melissa; Hulcoop, David; Hunt, Sarah E.; Leach, Andrew R.; Levchenko, Mariia; Marques, Diana; Mcdonagh, Ellen M.; Mithani, Aziz; Parkinson, Helen; Perez-Riverol, Yasset; Perova, Zinaida; Sarkans, Ugis; Tirunagari, Santosh; Tzampatzopoulou, Eleni; Venkatesan, Aravind; Vizcaino, Juan-Antonio; Wingfield, Benjamin; Zdrazil, Barbara; Mcentyre, Johanna

Phenotypic spectrum of dual diagnoses in developmental disorders

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-11-01

OAAI

Ridsdale, Alys M.; Dickerson, Anna; Chundru, V. Kartik; Firth, Helen V.; Wright, Caroline F.

DISSECTING THE CONTRIBUTION OF COMMON VARIANTS TO RISK OF RARE NEURODEVELOPMENTAL CONDITIONS

EUROPEAN NEUROPSYCHOPHARMACOLOGY

IF6.7

2024-10-01

PREAI

Huang, Qinqin; Wigdor, Emilie; Campbell, Patrick; Malawsky, Daniel; Samocha, Kaitlin; Chundru, Kartik; Danecek, Petr; Radford, Elizabeth; Barrett, Jeffrey; Wright, Caroline; Firth, Helen; Warrier, Varun; Young, Alexander; Hurles, Matt; Martin, Hilary

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

NATURE GENETICS

IF31.8

2024-09-23

OAAI

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

PSMC5 insufficiency and P320R mutation impair proteasome function

HUMAN MOLECULAR GENETICS

IF3.2

2024-05-22

OAAI

Yu, Zhong-Qiu; Carmichael, Jenny; Collins, Galen A.; D'Agostino, Maria Daniela; Lessard, Mathieu; Firth, Helen, V; Harijan, Pooja; Fry, Andrew E.; Dean, John; Zhang, Jiuchun; Kini, Usha; Goldberg, Alfred L.; Rubinsztein, David C.

Minimum information and guidelines for reporting a multiplexed assay of variant effect

GENOME BIOLOGY

IF9.4

2024-04-19

OAAI

Claussnitzer, Melina; Parikh, Victoria N.; Wagner, Alex H.; Arbesfeld, Jeremy A.; Bult, Carol J.; Firth, Helen V.; Muffley, Lara A.; Ba, Alex N. Nguyen; Riehle, Kevin; Roth, Frederick P.; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M.; Rubin, Alan F.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

SCIENTIFIC REPORTS

IF3.9

2024-04-15

OAAI

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

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-04-01

OAAI

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

Challenges of using whole genome sequencing in population newborn screening 全基因组测序在人群新生儿筛查中应用的挑战

BMJ-BRITISH MEDICAL JOURNAL

IF42.7

2024-03-05

PREAI

Horton, Rachel; Wright, Caroline F.; Firth, Helen, V; Turnbull, Clare; Lachmann, Robin; Houlston, Richard S.; Lucassen, Anneke

Population screening requires robust evidence-genomics is no exception 人口筛查需要强有力的证据-基因组学也不例外

LANCET

IF88.5

2024-02-01

PREAI

Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms

GENETICS IN MEDICINE

IF6.2

2024-02-01

OAAI

Roberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen, V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S.

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes 复发性从头MAX p.Arg60Gln变体通过c-myc靶基因的差异表达引起综合征过度生长障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-01-01

OAAI

Harris, Erica L.; Roy, Vincent; Montagne, Martin; Rose, Ailsa M. S.; Livesey, Helen; Reijnders, Margot R. F.; Hobson, Emma; Sansbury, Francis H.; Willemsen, Marjolein H.; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M.; Brunner, Han G.; Sheridan, Eamonn G.; Firth, Helen V.; Lavigne, Pierre; Poulter, James A.

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

NATURE COMMUNICATIONS

IF15.7

2023-12-06

OAAI

Radford, Elizabeth J.; Tan, Hong-Kee; Andersson, Malin H. L.; Stephenson, James D.; Gardner, Eugene J.; Ironfield, Holly; Waters, Andrew J.; Gitterman, Daniel; Lindsay, Sarah; Abascal, Federico; Martincorena, Inigo; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; Firth, Helen V.; Baker, Kate; Perry, John R. B.; Adams, David J.; Gerety, Sebastian S.; Hurles, Matthew E.

研究方向