Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

Vulto-van Silfhout, Anneke T; Gilissen, Christian; Goeman, Jelle J; Jansen, Sandra; van Amen-Hellebrekers, Claudia J M; van Bon, Bregje W M; Koolen, David A; Sistermans, Erik A; Brunner, Han G; de Brouwer, Arjan P M; de Vries, Bert B A

Vulto-van Silfhout, Anneke T; Gilissen, Christian; Goeman, Jelle J; Jansen, Sandra; van Amen-Hellebrekers, Claudia J M; van Bon, Bregje W M; Koolen, David A; Sistermans, Erik A; Brunner, Han G; de Brouwer, Arjan P M; de Vries, Bert B A.

Afiliação

Vulto-van Silfhout AT; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Goeman JJ; Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.
Jansen S; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.
van Amen-Hellebrekers CJM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
van Bon BWM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Koolen DA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Sistermans EA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Brunner HG; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
de Brouwer APM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

Hum Mutat ; 38(5): 594-599, 2017 05.

Article em En | MEDLINE | ID: mdl-28074630

Assuntos

Estudos de Associação Genética; Predisposição Genética para Doença; Fenótipo; Estudos de Associação Genética/métodos; Genótipo; Humanos; Modelos Genéticos; Modelos Estatísticos; Reprodutibilidade dos Testes

Palavras-chave

de novo mutations; intellectual disability; patient cohorts; phenotype features; statistical approach; systematic phenotyping

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda

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