Analysis of the TTR gene in the investigation of amyloidosis: A 25 ‐year single UK center experience
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - November 1, 2018 Category: Genetics & Stem Cells Authors: Dorota Rowczenio,
Candida C. Quarta,
Marianna Fontana,
Carol J. Whelan,
Ana Martinez ‐Naharro,
Hadija Trojer,
Anna Baginska,
Stuart M. Ferguson,
Janet Gilbertson,
Tamer Rezk,
Sajitha Sachchithanantham,
Shameem Mahmood,
Richa Manwani,
Faye S Source Type: research
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Fiona McLachlan,
Anna Martinez Sires,
Catherine M Abbott Tags: REVIEW Source Type: research
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Paola Fortugno,
Francesco Angelucci,
Gianluca Cestra,
Letizia Camerota,
Angelo Salvatore Ferraro,
Sonia Cordisco,
Luigi Uccioli,
Daniele Castiglia,
Barbara Angelis,
Ingo Kurth,
Uwe Kornak,
Francesco Brancati Tags: RESEARCH ARTICLE Source Type: research
A genotype ‐based database for variants causing the Sjögren‐Larsson Syndrome
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Maximilian Weustenfeld,
Reiner Eidelpes,
Matthias Schmuth,
William B. Rizzo,
Johannes Zschocke,
Markus A. Keller Tags: DATABASES Source Type: research
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Fiona McLachlan,
Anna Martinez Sires,
Catherine M Abbott Source Type: research
A genotype ‐based database for variants causing the Sjögren‐Larsson Syndrome
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Maximilian Weustenfeld,
Reiner Eidelpes,
Matthias Schmuth,
William B. Rizzo,
Johannes Zschocke,
Markus A. Keller Source Type: research
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 29, 2018 Category: Genetics & Stem Cells Authors: Paola Fortugno,
Francesco Angelucci,
Gianluca Cestra,
Letizia Camerota,
Angelo Salvatore Ferraro,
Sonia Cordisco,
Luigi Uccioli,
Daniele Castiglia,
Barbara Angelis,
Ingo Kurth,
Uwe Kornak,
Francesco Brancati Source Type: research
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 26, 2018 Category: Genetics & Stem Cells Authors: Ester Castellsagu é,
Rui Li,
Rosa Aligue,
Sara González,
Judit Sanz,
Edgar Martin,
Àngela Velasco,
Gabriel Capellá,
Colin JR Stewart,
August Vidal,
Jacek Majewski,
Barbara Rivera,
Paz Polak,
Xavier Matias‐Guiu,
Joan Brunet,
William D. Source Type: research
Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 26, 2018 Category: Genetics & Stem Cells Authors: Mariska Davids,
Thomas Markello,
Lynne A. Wolfe,
Xenia Chepa ‐Lotrea,
Cynthia J. Tifft,
William A. Gahl,
May Christine Malicdan Source Type: research
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 26, 2018 Category: Genetics & Stem Cells Authors: Ester Castellsagu é,
Rui Li,
Rosa Aligue,
Sara González,
Judit Sanz,
Edgar Martin,
Àngela Velasco,
Gabriel Capellá,
Colin JR Stewart,
August Vidal,
Jacek Majewski,
Barbara Rivera,
Paz Polak,
Xavier Matias‐Guiu,
Joan Brunet,
William D. Source Type: research
Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 26, 2018 Category: Genetics & Stem Cells Authors: Mariska Davids,
Thomas Markello,
Lynne A. Wolfe,
Xenia Chepa ‐Lotrea,
Cynthia J. Tifft,
William A. Gahl,
May Christine Malicdan Source Type: research
Allele balance bias identifies systematic genotyping errors and false disease associations
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 24, 2018 Category: Genetics & Stem Cells Authors: Francesc Muyas,
Mattia Bosio,
Anna Puig,
Hana Susak,
Laura Dom ènech‐Salgado,
Georgia Escaramis,
Luis Zapata,
German Demidov,
Xavier Estivill,
Raquel Rabionet,
Stephan Ossowski Source Type: research
Variable population prevalence estimates of germline TP53 variants: A gnomAD ‐based analysis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 23, 2018 Category: Genetics & Stem Cells Authors: Kelvin C. Andrade,
Megan N. Frone,
Talia Wegman ‐Ostrosky,
Payal P. Khincha,
Jung Kim,
Amina Amadou,
Karina M. Santiago,
Fernanda P. Fortes,
Nathanaël Lemonnier,
Lisa Mirabello,
Douglas R. Stewart,
Pierre Hainaut,
Luiz P. Kowalski,
Sharon Source Type: research
NR5A1 gene variants repress the ovarian ‐specific WNT signalling pathway in 46,XX Disorders of sex development patients
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 23, 2018 Category: Genetics & Stem Cells Authors: Ingrid M. Knarston,
Gorjana Robevska,
Jocelyn A den Bergen,
Stefanie Eggers,
Brittany Croft,
Jason Yates,
Remko Hersmus,
Leendert H.J. Looijenga,
Fergus J. Cameron,
Klaus Monhike,
Katie L. Ayers,
Andrew H. Sinclair Source Type: research
