Helen V Firth

发表

Genomic variant sharing: a position statement

Nazneen Rahman, Caroline F Wright, James S Ware, 2019, Wellcome open research.

Returning genome sequences to research participants: Policy and practice

Matthew E Hurles, Caroline F Wright, Anna Middleton, 2017, Wellcome open research.

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Matthew E Hurles, Caroline F Wright, Elena Prigmore, 2019, Genome research.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Jan M Friedman, Lionel Willatt, Howard Martin, 2007, Journal of Medical Genetics.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Alejandro Sifrim, Matthew E Hurles, Tomas W. Fitzgerald, 2015, The Lancet.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Manuel Corpas, Matthew E Hurles, Caroline F Wright, 2012, Human molecular genetics.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Dagmar Wieczorek, Juliane Hoyer, Ute Moog, 2009, European Journal of Human Genetics.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Andrew J Lees, Susan Gribble, Rohan de Silva, 2006, Nature Genetics.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Manuel Corpas, Yves Moreau, Steven Van Vooren, 2009, American journal of human genetics.

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Leslie Burke, Thilo Dörk, Paolo Radice, 2019, Journal of Medical Genetics.

Interpretation of Genomic Copy Number Variants Using DECIPHER

Manuel Corpas, Stephen Clayton, Eugene Bragin, 2012, Current protocols in human genetics.