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

Found: 11

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

CACNA1H variants are not a cause of monogenic epilepsy.

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

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

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

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

Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

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

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

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

Issue Information.