Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 12

Results: 15

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 12, p. 1243, doi. 10.1002/humu.22896
Publication type:: Article

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1329, doi. 10.1002/humu.23038

By:

Dubourg, Christèle;
Carré, Wilfrid;
Hamdi‐Rozé, Houda;
Mouden, Charlotte;
Roume, Joëlle;
Abdelmajid, Benmansour;
Amram, Daniel;
Baumann, Clarisse;
Chassaing, Nicolas;
Coubes, Christine;
Faivre‐Olivier, Laurence;
Ginglinger, Emmanuelle;
Gonzales, Marie;
Levy‐Mozziconacci, Annie;
Lynch, Sally‐Ann;
Naudion, Sophie;
Pasquier, Laurent;
Poidvin, Amélie;
Prieur, Fabienne;
Sarda, Pierre

Publication type:

Article

Fourth Generation of Next-Generation Sequencing Technologies: Promise and Consequences.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1363, doi. 10.1002/humu.23051

By:

Ke, Rongqin;
Mignardi, Marco;
Hauling, Thomas;
Nilsson, Mats

Publication type:

Article

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1340, doi. 10.1002/humu.23063

By:

Marelli, Cecilia;
Guissart, Claire;
Hubsch, Cecile;
Renaud, Mathilde;
Villemin, Jean‐Philippe;
Larrieu, Lise;
Charles, Perrine;
Ayrignac, Xavier;
Sacconi, Sabrina;
Collignon, Patrick;
Cuntz‐Shadfar, Danielle;
Perrin, Laurine;
Benarrosh, Anelia;
Degardin, Adrian;
Lagha‐Boukbiza, Ouhaïd;
Mutez, Eugenie;
Carlander, Bertrand;
Morales, Raul Juntas;
Gonzalez, Victoria;
Carra‐Dalliere, Clarisse

Publication type:

Article

Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1283, doi. 10.1002/humu.23066

By:

Veneziano, Dario;
Di Bella, Sebastiano;
Nigita, Giovanni;
Laganà, Alessandro;
Ferro, Afredo;
Croce, Carlo M.

Publication type:

Article

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1272, doi. 10.1002/humu.23110

By:

Salgado, David;
Bellgard, Matthew I.;
Desvignes, Jean‐Pierre;
Béroud, Christophe

Publication type:

Article

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113

By:

Béroud, Christophe;
Letovsky, Stanley I.;
Braastad, Corey D.;
Caputo, Sandrine M.;
Beaudoux, Olivia;
Bignon, Yves Jean;
Paillerets, Brigitte;
Bronner, Myriam;
Buell, Crystal M.;
Collod‐Béroud, Gwenaëlle;
Coulet, Florence;
Derive, Nicolas;
Divincenzo, Christina;
Elzinga, Christopher D.;
Garrec, Céline;
Houdayer, Claude;
Karbassi, Izabela;
Lizard, Sarab;
Love, Angela;
Muller, Danièle

Publication type:

Article

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1263, doi. 10.1002/humu.23114

By:

Laurie, Steve;
Fernandez‐Callejo, Marcos;
Marco‐Sola, Santiago;
Trotta, Jean‐Remi;
Camps, Jordi;
Chacón, Alejandro;
Espinosa, Antonio;
Gut, Marta;
Gut, Ivo;
Heath, Simon;
Beltran, Sergi

Publication type:

Article

Actionable Genes, Core Databases, and Locus-Specific Databases.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1299, doi. 10.1002/humu.23112

By:

Pinard, Amélie;
Miltgen, Morgane;
Blanchard, Arnaud;
Mathieu, Hélène;
Desvignes, Jean‐Pierre;
Salgado, David;
Fabre, Aurélie;
Arnaud, Pauline;
Barré, Laura;
Krahn, Martin;
Grandval, Philippe;
Olschwang, Sylviane;
Zaffran, Stéphane;
Boileau, Catherine;
Béroud, Christophe;
Collod‐Béroud, Gwenaëlle

Publication type:

Article

WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1308, doi. 10.1002/humu.23119

By:

Pinard, Amélie;
Salgado, David;
Desvignes, Jean‐Pierre;
Rai, Ghadi;
Hanna, Nadine;
Arnaud, Pauline;
Guien, Céline;
Martinez, Maria;
Faivre, Laurence;
Jondeau, Guillaume;
Boileau, Catherine;
Zaffran, Stéphane;
Béroud, Christophe;
Collod‐Béroud, Gwenaëlle

Publication type:

Article

Am I My Family's Keeper? Disclosure Dilemmas in Next-Generation Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1257, doi. 10.1002/humu.23118

By:

Wouters, Roel H.P.;
Bijlsma, Rhodé M.;
Ausems, Margreet G.E.M.;
Delden, Johannes J.M.;
Voest, Emile E.;
Bredenoord, Annelien L.

Publication type:

Article

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1354, doi. 10.1002/humu.23120

By:

Lerat, Justine;
Jonard, Laurence;
Loundon, Natalie;
Christin‐Maitre, Sophie;
Lacombe, Didier;
Goizet, Cyril;
Rouzier, Cécile;
Maldergem, Lionel;
Gherbi, Souad;
Garabedian, Eréa‐Nöel;
Bonnefont, Jean‐ Paul;
Touraine, Philippe;
Mosnier, Isabelle;
Munnich, Arnold;
Denoyelle, Françoise;
Marlin, Sandrine

Publication type:

Article

Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1248, doi. 10.1002/humu.23122

By:

Niemiec, Emilia;
Borry, Pascal;
Pinxten, Wim;
Howard, Heidi Carmen

Publication type:

Article

High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1247, doi. 10.1002/humu.23134

By:

Hegde, Madhuri;
Munnich, Arnold;
Béroud, Christophe

Publication type:

Article

Cover Image, Volume 37, Issue 12.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. i, doi. 10.1002/humu.23142

By:

Hegde, Madhuri;
Munnich, Arnold;
Béroud, Christophe

Publication type:

Article