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

Results: 13

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
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
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
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
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
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
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
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