Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 6

Results: 11

dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1123, doi. 10.1002/humu.24020

By:

Li, Chang;
Mou, Chengcheng;
Swartz, Michael D.;
Yu, Bing;
Bai, Yongsheng;
Tu, Yicheng;
Liu, Xiaoming

Publication type:

Article

Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1112, doi. 10.1002/humu.24018

By:

Kounelis, Fotios;
Kanterakis, Alexandros;
Kanavos, Andreas;
Pandi, Maria‐Theodora;
Kordou, Zoe;
Manusama, Olivia;
Vonitsanos, Gerasimos;
Katsila, Theodora;
Tsermpini, Evangelia‐Eirini;
Lauschke, Volker M.;
Koromina, Maria;
Spek, Peter J.;
Patrinos, George P.

Publication type:

Article

CACNA1H variants are not a cause of monogenic epilepsy.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1138, doi. 10.1002/humu.24017

By:

Calhoun, Jeffrey D.;
Huffman, Alexandra M.;
Bellinski, Irena;
Kinsley, Lisa;
Bachman, Elizabeth;
Gerard, Elizabeth;
Kearney, Jennifer A.;
Carvill, Gemma L.

Publication type:

Article

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1183, doi. 10.1002/humu.24012

By:

Aspromonte, Maria C.;
Bellini, Mariagrazia;
Gasparini, Alessandra;
Carraro, Marco;
Bettella, Elisa;
Polli, Roberta;
Cesca, Federica;
Bigoni, Stefania;
Boni, Stefania;
Carlet, Ombretta;
Negrin, Susanna;
Mammi, Isabella;
Milani, Donatella;
Peron, Angela;
Sartori, Stefano;
Toldo, Irene;
Soli, Fiorenza;
Turolla, Licia;
Stanzial, Franco;
Benedicenti, Francesco

Publication type:

Article

LEAP: Using machine learning to support variant classification in a clinical setting.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1079, doi. 10.1002/humu.24011

By:

Lai, Carmen;
Zimmer, Anjali D.;
O'Connor, Robert;
Kim, Serra;
Chan, Ray;
Akker, Jeroen;
Zhou, Alicia Y.;
Topper, Scott;
Mishne, Gilad

Publication type:

Article

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1131, doi. 10.1002/humu.24008

By:

Helman, Guy;
Takanohashi, Asako;
Hagemann, Tracy L.;
Perng, Ming D.;
Walkiewicz, Marzena;
Woidill, Sarah;
Sase, Sunetra;
Cross, Zachary;
Du, Yangzhu;
Zhao, Ling;
Waldman, Amy;
Haake, Bret C.;
Fatemi, Ali;
Brenner, Michael;
Sherbini, Omar;
Messing, Albee;
Vanderver, Adeline;
Simons, Cas

Publication type:

Article

Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007

By:

Martinelli, Simone;
Pannone, Luca;
Lissewski, Christina;
Brinkmann, Julia;
Flex, Elisabetta;
Schanze, Denny;
Calligari, Paolo;
Anselmi, Massimiliano;
Pantaleoni, Francesca;
Canale, Viviana Claudia;
Radio, Francesca Clementina;
Ioannides, Adonis;
Rahner, Nils;
Schanze, Ina;
Josifova, Dragana;
Bocchinfuso, Gianfranco;
Ryten, Mina;
Stella, Lorenzo;
Tartaglia, Marco;
Zenker, Martin

Publication type:

Article

TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1157, doi. 10.1002/humu.24006

By:

Di Zanni, Eleonora;
Gradogna, Antonella;
Picco, Cristiana;
Scholz‐Starke, Joachim;
Boccaccio, Anna

Publication type:

Article

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1145, doi. 10.1002/humu.24005

By:

Wimmer, Katharina;
Schamschula, Esther;
Wernstedt, Annekatrin;
Traunfellner, Pia;
Amberger, Albert;
Zschocke, Johannes;
Kroisel, Peter;
Chen, Yunjia;
Callens, Tom;
Messiaen, Ludwine

Publication type:

Article

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1091, doi. 10.1002/humu.24004

By:

Verdonschot, Job A. J.;
Vanhoutte, Els K.;
Claes, Godelieve R. F.;
Helderman‐van den Enden, Apollonia T. J. M.;
Hoeijmakers, Janneke G. J.;
Hellebrekers, Debby M. E. I.;
Haan, Amber;
Christiaans, Imke;
Lekanne Deprez, Ronald H.;
Boen, Hanne M.;
Craenenbroeck, Emeline M.;
Loeys, Bart L.;
Hoedemaekers, Yvonne M.;
Marcelis, Carlo;
Kempers, Marlies;
Brusse, Esther;
Waning, Jaap I.;
Baas, Annette F.;
Dooijes, Dennis;
Asselbergs, Folkert W.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 6, p. 1077, doi. 10.1002/humu.23810
Publication type:: Article