Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 4

Results: 13

Retraction: Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability.

Published in:: Human Mutation, 2020, v. 41, n. 4, p. 860, doi. 10.1002/humu.23991
Publication type:: Article

A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 850, doi. 10.1002/humu.23981

By:

Doisne, Nicolas;
Waldmann, Victor;
Redheuil, Alban;
Waintraub, Xavier;
Fressart, Véronique;
Ader, Flavie;
Fossé, Lucie;
Hidden‐Lucet, Françoise;
Gandjbakhch, Estelle;
Neyroud, Nathalie

Publication type:

Article

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 800, doi. 10.1002/humu.23971

By:

Seiden, Allison H.;
Richter, Felix;
Patel, Nihir;
Rodriguez, Oscar L.;
Deikus, Gintaras;
Shah, Hardik;
Smith, Melissa;
Roberts, Amy;
King, Eileen C.;
Sebra, Robert P.;
Sharp, Andrew J.;
Gelb, Bruce D.

Publication type:

Article

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 753, doi. 10.1002/humu.23970

By:

Baumann, Matthias;
Beaver, Erin M.;
Palomares‐Bralo, María;
Santos‐Simarro, Fernando;
Holzer, Peter;
Povysil, Gundula;
Müller, Thomas;
Valovka, Taras;
Janecke, Andreas R.

Publication type:

Article

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 759, doi. 10.1002/humu.23963

By:

Dufner Almeida, Luiz G.;
Nanhoe, Santoesha;
Zonta, Andrea;
Hosseinzadeh, Mitra;
Kom‐Gortat, Regina;
Elfferich, Peter;
Schaaf, Gerben;
Kenter, Annegien;
Kümmel, Daniel;
Migone, Nicola;
Povey, Sue;
Ekong, Rosemary;
Nellist, Mark

Publication type:

Article

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 737, doi. 10.1002/humu.23973

By:

Gupta, Vinod;
Kulkarni, Anuja;
Warang, Prashant;
Devendra, Rati;
Chiddarwar, Ashish;
Kedar, Prabhakar

Publication type:

Article

Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 749, doi. 10.1002/humu.23978

By:

Chong, Anne‐Sophie;
Chong, George;
Foulkes, William D.;
Saskin, Avi

Publication type:

Article

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 825, doi. 10.1002/humu.23977

By:

Abelleyro, Miguel Martín;
Radic, Claudia Pamela;
Marchione, Vanina Daniela;
Waisman, Karen;
Tetzlaff, Tomas;
Neme, Daniela;
Rossetti, Liliana Carmen;
De Brasi, Carlos Daniel

Publication type:

Article

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 837, doi. 10.1002/humu.23975

By:

Rice, Gillian I.;
Park, Sehoon;
Gavazzi, Francesco;
Adang, Laura A.;
Ayuk, Loveline A.;
Van Eyck, Lien;
Seabra, Luis;
Barrea, Christophe;
Battini, Roberta;
Belot, Alexandre;
Berg, Stefan;
Billette de Villemeur, Thierry;
Bley, Annette E.;
Blumkin, Lubov;
Boespflug‐Tanguy, Odile;
Briggs, Tracy A.;
Brimble, Elise;
Dale, Russell C.;
Darin, Niklas;
Debray, François‐Guillaume

Publication type:

Article

A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number‐dependent manner.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 807, doi. 10.1002/humu.23974

By:

Bertuzzi, Maria;
Tang, Dave;
Calligaris, Raffaella;
Vlachouli, Christina;
Finaurini, Sara;
Sanges, Remo;
Goldwurm, Stefano;
Catalan, Mauro;
Antonutti, Lucia;
Manganotti, Paolo;
Pizzolato, Gilberto;
Pezzoli, Gianni;
Persichetti, Francesca;
Carninci, Piero;
Gustincich, Stefano

Publication type:

Article

Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 786, doi. 10.1002/humu.23969

By:

Cao, Xuanye;
Tian, Tian;
Steele, John W.;
Cabrera, Robert M.;
Aguiar‐Pulido, Vanessa;
Wadhwa, Shruti;
Bhavani, Nikitha;
Bi, Patrick;
Gargurevich, Nick H.;
Hoffman, Ethan N.;
Cai, Chun‐Quan;
Marini, Nicholas J.;
Yang, Wei;
Shaw, Gary M.;
Ross, Margaret E.;
Finnell, Richard H.;
Lei, Yunping

Publication type:

Article

Analysis of CLCNKB mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 774, doi. 10.1002/humu.23962

By:

Bignon, Yohan;
Sakhi, Imene;
Bitam, Sara;
Bakouh, Naziha;
Keck, Mathilde;
Frachon, Nadia;
Paulais, Marc;
Planelles, Gabrielle;
Teulon, Jacques;
Andrini, Olga

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 4, p. 735, doi. 10.1002/humu.23808
Publication type:: Article