Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

P. Ostergaard; M. A. Simpson; G. Brice; S. Mansour; F. C. Connell; A. Onoufriadis; A. H. Child; J. Hwang; K. Kalidas; P. S. Mortimer; R. Trembath; S. Jeffery

doi:10.1136/jmg.2010.085563

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Journal of Medical Genetics ◽

10.1136/jmg.2010.085563 ◽

2011 ◽

Vol 48 (4) ◽

pp. 251-255 ◽

Cited By ~ 62

Author(s):

P. Ostergaard ◽

M. A. Simpson ◽

G. Brice ◽

S. Mansour ◽

F. C. Connell ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Rapid Identification ◽

Whole Exome

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Faculty Opinions recommendation of Linkage analysis combined with whole exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.736729566.793568262 ◽

2019 ◽

Author(s):

Toshiyuki Miyata

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Gene Mutation ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Caucasian Family

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384 Whole genome linkage analysis followed by whole exome sequencing identifies nicastrin ( NCSTN ) as a causative gene in a multiplex family with γ-secretase associated autoinflammatory skin phenotypes

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.02.417 ◽

2016 ◽

Vol 136 (5) ◽

pp. S68

Author(s):

M. Faraji Zonooz ◽

F. Sabbaghzadeh-Kermani ◽

Z. Fattahi ◽

M. Fadaee ◽

M.R. Akbari ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Genome ◽

Multiplex Family ◽

Causative Gene ◽

Whole Exome

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Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2

Neurodegenerative Diseases ◽

10.1159/000487754 ◽

2018 ◽

Vol 18 (2-3) ◽

pp. 74-83 ◽

Cited By ~ 1

Author(s):

Xianli Bian ◽

Pengfei Lin ◽

Jiangxia Li ◽

Feng Long ◽

Ruonan Duan ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Chinese Family ◽

Whole Genome ◽

Charcot Marie Tooth ◽

Whole Exome ◽

Novel Variant

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Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Neurogenetics ◽

10.1007/s10048-019-00576-3 ◽

2019 ◽

Vol 20 (3) ◽

pp. 117-127 ◽

Cited By ~ 3

Author(s):

Shelisa Tey ◽

Nortina Shahrizaila ◽

Alexander P. Drew ◽

Sarimah Samulong ◽

Khean-Jin Goh ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Whole Exome ◽

Autosomal Recessive Cmt

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Genome‐wide linkage analysis and whole‐exome sequencing identifies anITGA2Bmutation in a family with thrombocytopenia

British Journal of Haematology ◽

10.1111/bjh.15961 ◽

2019 ◽

Vol 186 (4) ◽

pp. 574-579

Author(s):

Rami Khoriaty ◽

Ayse B. Ozel ◽

Shweta Ramdas ◽

Charles Ross ◽

Karl Desch ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Genome Wide ◽

Whole Exome

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SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

European Journal of Human Genetics ◽

10.1038/ejhg.2015.46 ◽

2015 ◽

Vol 23 (12) ◽

pp. 1627-1633 ◽

Cited By ~ 11

Author(s):

Christina Evers ◽

Nagarajan Paramasivam ◽

Katrin Hinderhofer ◽

Christine Fischer ◽

Martin Granzow ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Congenital Cataract ◽

Novel Gene ◽

Whole Exome

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Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing

Medicine ◽

10.1097/md.0000000000028436 ◽

2021 ◽

Vol 100 (52) ◽

pp. e28436

Author(s):

Wenwen Zhang ◽

Chen Huang ◽

Wei Zhou

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Rapid Identification ◽

Pathogenic Variant ◽

Whole Exome

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.02.801 ◽

2016 ◽

Vol 136 (6) ◽

pp. 1283-1286 ◽

Cited By ~ 7

Author(s):

Mehrshid Faraji Zonooz ◽

Farahnaz Sabbagh-Kermani ◽

Zohreh Fattahi ◽

Mahsa Fadaee ◽

Mohammad Reza Akbari ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Genome ◽

Multiplex Family ◽

Causative Gene ◽

Whole Exome

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Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2011.09.020 ◽

2011 ◽

Vol 104 (4) ◽

pp. 517-520 ◽

Cited By ~ 57

Author(s):

Itai Berger ◽

Ziva Ben-Neriah ◽

Talia Dor-Wolman ◽

Avraham Shaag ◽

Ann Saada ◽

...

Keyword(s):

Linkage Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Exome

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Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing

Clinical and Translational Gastroenterology ◽

10.14309/ctg.0000000000000100 ◽

2019 ◽

Vol 10 (10) ◽

pp. e00100 ◽

Cited By ~ 1

Author(s):

Claudio Toma ◽

Marcos Díaz-Gay ◽

Yasmin Soares de Lima ◽

Coral Arnau-Collell ◽

Sebastià Franch-Expósito ◽

...

Keyword(s):

Linkage Analysis ◽

Candidate Gene ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Polyposis Syndrome ◽

Whole Exome

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