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
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 22, 2018 Category: Genetics & Stem Cells Authors: Liliana C. Pati ño,
Isabelle Beau,
Adrien Morel,
Brigitte Delemer,
Jacques Young,
Nadine Binart,
Paul Laissue Source Type: research
The mutation ‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 22, 2018 Category: Genetics & Stem Cells Authors: Ágnes Mikó,
Dóra K. Menyhárd,
Ambrus Kaposi,
Corinne Antignac,
Kálmán Tory Source Type: research
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 22, 2018 Category: Genetics & Stem Cells Authors: Asma Tajouri,
Maher Kharrat,
Syrine Hizem,
Hajer Zaghdoudi,
Ridha M'rad,
Gunter Simic ‐Schleicher,
Frank J. Kaiser,
Olaf Hiort,
Ralf Werner Source Type: research
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 22, 2018 Category: Genetics & Stem Cells Authors: Jeffrey Schubert,
Muhammad Tariq,
Gabrielle Geddes,
Steven Kindel,
Erin M. Miller,
Stephanie M. Ware Source Type: research
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 22, 2018 Category: Genetics & Stem Cells Authors: Liliana C. Pati ño,
Isabelle Beau,
Adrien Morel,
Brigitte Delemer,
Jacques Young,
Nadine Binart,
Paul Laissue Source Type: research
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 20, 2018 Category: Genetics & Stem Cells Authors: Christel Vach é,
Simona Torriano,
Valérie Faugère,
Nejla Erkilic,
David Baux,
Gema Garcia‐Garcia,
Christian P. Hamel,
Isabelle Meunier,
Xavier Zanlonghi,
Michel Koenig,
Vasiliki Kalatzis,
Anne‐Françoise Roux Source Type: research
CardioVAI: An automatic implementation of ACMG ‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 19, 2018 Category: Genetics & Stem Cells Authors: Giovanna Nicora,
Ivan Limongelli,
Patrick Gambelli,
Mirella Memmi,
Alberto Malovini,
Andrea Mazzanti,
Carlo Napolitano,
Silvia Priori,
Riccardo Bellazzi Source Type: research
IQSEC2 mutation update and review of the female ‐specific phenotype spectrum including intellectual disability and epilepsy
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 17, 2018 Category: Genetics & Stem Cells Authors: Cheryl Shoubridge,
Robert J. Harvey,
Tracy Dudding ‐Byth Source Type: research
Analysis of the TTR gene in the investigation of amyloidosis: A 25 year single UK centre experience
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 17, 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
IQSEC2 mutation update and review of the female ‐specific phenotype spectrum including intellectual disability and epilepsy
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 17, 2018 Category: Genetics & Stem Cells Authors: Cheryl Shoubridge,
Robert J. Harvey,
Tracy Dudding ‐Byth Source Type: research
Analysis of the TTR gene in the investigation of amyloidosis: A 25 year single UK centre experience
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 17, 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
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l ‐amino acid decarboxylase deficiency
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Chi ‐Ren Tsai,
Hsiu‐Fen Lee,
Ching‐Shiang Chi,
Ming‐Te Yang,
Chia‐Chi Hsu Source Type: research
