Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 10

Results: 25

Front Cover, Volume 40, Issue 10.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923

By:

Cox, Timothy C.;
Lidral, Andrew C.;
McCoy, Jason C.;
Liu, Huan;
Cox, Liza L.;
Zhu, Ying;
Anderson, Ryan D.;
Moreno Uribe, Lina M.;
Anand, Deepti;
Deng, Mei;
Richter, Chika T.;
Nidey, Nichole L.;
Standley, Jennifer M.;
Blue, Elizabeth E.;
Chong, Jessica X.;
Smith, Joshua D.;
Kirk, Edwin P.;
Venselaar, Hanka;
Krahn, Katy N.;
Bokhoven, Hans

Publication type:

Article

Checklist for gene/disease‐specific variation database curators to enable ethical data management.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1634, doi. 10.1002/humu.23881

By:

Ekong, Rosemary;
Vihinen, Mauno

Publication type:

Article

Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1630, doi. 10.1002/humu.23850

By:

Aartsma‐Rus, Annemieke;
Dunnen, Johan T.

Publication type:

Article

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839

By:

Ferdinandusse, Sacha;
te Brinke, Heleen;
Ruiter, Jos P.N.;
Haasjes, Janet;
Oostheim, Wendy;
Lenthe, Henk;
IJlst, Lodewijk;
Ebberink, Merel S.;
Wanders, Ronald J.A.;
Vaz, Frédéric M.;
Waterham, Hans R.

Publication type:

Article

Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1874, doi. 10.1002/humu.23827

By:

Henriques, Sara F.;
Gicquel, Evelyne;
Marsolier, Justine;
Richard, Isabelle

Publication type:

Article

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1886, doi. 10.1002/humu.23834

By:

Morlino, Silvia;
Carbone, Annalucia;
Ritelli, Marco;
Fusco, Carmela;
Giambra, Vincenzo;
Nardella, Grazia;
Notarangelo, Angelantonio;
Panelli, Patrizio;
Mazzoccoli, Gianluigi;
Zoppi, Nicoletta;
Grammatico, Paola;
Wade, Emma M;
Colombi, Marina;
Castori, Marco;
Micale, Lucia

Publication type:

Article

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1797, doi. 10.1002/humu.23792

By:

Thompson, Rachel;
Papakonstantinou Ntalis, Anastasios;
Beltran, Sergi;
Töpf, Ana;
Paula Estephan, Eduardo;
Polavarapu, Kiran;
't Hoen, Peter A. C.;
Missier, Paolo;
Lochmüller, Hanns

Publication type:

Article

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1641, doi. 10.1002/humu.23831

By:

Abdelkreem, Elsayed;
Harijan, Rajesh K.;
Yamaguchi, Seiji;
Wierenga, Rikkert K.;
Fukao, Toshiyuki

Publication type:

Article

The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1676, doi. 10.1002/humu.23828

By:

Banerjee, Mayukh;
Arutyunov, Denis;
Brandwein, Daniel;
Janetzki‐Flatt, Cassandra;
Kolski, Hanna;
Hume, Stacey;
Leonard, Norma Jean;
Watt, James;
Lacson, Atilano;
Baradi, Monica;
Leslie, Elaine M.;
Cordat, Emmanuelle;
Caluseriu, Oana

Publication type:

Article

A Vietnamese human genetic variation database.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1664, doi. 10.1002/humu.23835

By:

Le, Vinh S.;
Tran, Kien T.;
Bui, Hoa T. P.;
Le, Huong T. T.;
Nguyen, Canh D.;
Do, Duong H.;
Ly, Ha T. T.;
Pham, Linh T. D.;
Dao, Lan T. M.;
Nguyen, Liem T.

Publication type:

Article

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821

By:

Lin, Jin‐Huan;
Tang, Xin‐Ying;
Boulling, Arnaud;
Zou, Wen‐Bin;
Masson, Emmanuelle;
Fichou, Yann;
Raud, Loann;
Le Tertre, Marlène;
Deng, Shun‐Jiang;
Berlivet, Isabelle;
Ka, Chandran;
Mort, Matthew;
Hayden, Matthew;
Leman, Raphaël;
Houdayer, Claude;
Le Gac, Gerald;
Cooper, David N.;
Li, Zhao‐Shen;
Férec, Claude;
Liao, Zhuan

Publication type:

Article

Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1684, doi. 10.1002/humu.23833

By:

Aref‐Eshghi, Erfan;
Bourque, Danielle K.;
Kerkhof, Jennifer;
Carere, Deanna Alexis;
Ainsworth, Peter;
Sadikovic, Bekim;
Armour, Christine M.;
Lin, Hanxin

Publication type:

Article

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1781, doi. 10.1002/humu.23804

By:

Friebel, Tara M.;
Andrulis, Irene L.;
Balmaña, Judith;
Blanco, Amie M.;
Couch, Fergus J.;
Daly, Mary B.;
Domchek, Susan M.;
Easton, Douglas F.;
Foulkes, William D.;
Ganz, Patricia A.;
Garber, Judy;
Glendon, Gord;
Greene, Mark H.;
Hulick, Peter J.;
Isaacs, Claudine;
Jankowitz, Rachel C.;
Karlan, Beth Y.;
Kirk, Judy;
Kwong, Ava;
Lee, Annette

Publication type:

Article

Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1841, doi. 10.1002/humu.23803

By:

Hemming, Isabel A.;
Clément, Olivier;
Gladwyn‐Ng, Ivan E.;
Cullen, Hayley D.;
Ng, Han Leng;
See, Heng B.;
Ngo, Linh;
Ulgiati, Daniela;
Pfleger, Kevin D.G.;
Agostino, Mark;
Heng, Julian I‐T.

Publication type:

Article

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1826, doi. 10.1002/humu.23799

By:

Scheidecker, Sophie;
Bär, Séverine;
Stoetzel, Corinne;
Geoffroy, Véronique;
Lannes, Béatrice;
Rinaldi, Bruno;
Fischer, Frédéric;
Becker, Hubert D.;
Pelletier, Valérie;
Pagan, Cécile;
Acquaviva‐Bourdain, Cécile;
Kremer, Stéphane;
Mirande, Marc;
Tranchant, Christine;
Muller, Jean;
Friant, Sylvie;
Dollfus, Hélène

Publication type:

Article

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793

By:

Cox, Timothy C.;
Lidral, Andrew C.;
McCoy, Jason C.;
Liu, Huan;
Cox, Liza L.;
Zhu, Ying;
Anderson, Ryan D.;
Moreno Uribe, Lina M.;
Anand, Deepti;
Deng, Mei;
Richter, Chika T.;
Nidey, Nichole L.;
Standley, Jennifer M.;
Blue, Elizabeth E.;
Chong, Jessica X.;
Smith, Joshua D.;
Kirk, Edwin P.;
Venselaar, Hanka;
Krahn, Katy N.;
Bokhoven, Hans

Publication type:

Article

A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1768, doi. 10.1002/humu.23817

By:

Fanis, Pavlos;
Kousiappa, Ioanna;
Phylactides, Marios;
Kyrri, Andreani;
Hadjigavriel, Michael;
Christou, Soteroula;
Sitarou, Maria;
Kleanthous, Marina

Publication type:

Article

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1749, doi. 10.1002/humu.23787

By:

Khan, Mubeen;
Cornelis, Stéphanie S.;
Khan, Muhammad Imran;
Elmelik, Duaa;
Manders, Eline;
Bakker, Sem;
Derks, Ronny;
Neveling, Kornelia;
Vorst, Maartje;
Gilissen, Christian;
Meunier, Isabelle;
Defoort, Sabine;
Puech, Bernard;
Devos, Aurore;
Schulz, Heidi L.;
Stöhr, Heidi;
Grassmann, Felix;
Weber, Bernhard H. F.;
Dhaenens, Claire‐Marie;
Cremers, Frans P. M.

Publication type:

Article

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1760, doi. 10.1002/humu.23783

By:

Brekelmans, Carlijn;
Hollants, Silke;
Groote, Caroline;
Sohier, Natalie;
Maréchal, Marina;
Geris, Liesbet;
Luyten, Frank P.;
Ginckels, Lieve;
Sciot, Raf;
Ravel, Thomy;
Smet, Luc;
Lammens, Johan;
Legius, Eric;
Brems, Hilde

Publication type:

Article

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1700, doi. 10.1002/humu.23779

By:

Tort, Frederic;
Ugarteburu, Olatz;
Texidó, Laura;
Gea‐Sorlí, Sabrina;
García‐Villoria, Judit;
Ferrer‐Cortès, Xènia;
Arias, Ángela;
Matalonga, Leslie;
Gort, Laura;
Ferrer, Isidre;
Guitart‐Mampel, Mariona;
Garrabou, Glòria;
Vaz, Frederick M;
Pristoupilova, Ana;
Rodríguez, María Isabel Esteban;
Beltran, Sergi;
Cardellach, Francesc;
Wanders, Ronald JA;
Fillat, Cristina;
García‐Silva, María Teresa

Publication type:

Article

Functional classification of ATM variants in ataxia‐telangiectasia patients.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1713, doi. 10.1002/humu.23778

By:

Fiévet, Alice;
Bellanger, Dorine;
Rieunier, Guillaume;
Dubois d'Enghien, Catherine;
Sophie, Julia;
Calvas, Patrick;
Carriere, Jean‐Paul;
Anheim, Mathieu;
Castrioto, Anna;
Flabeau, Olivier;
Degos, Bertrand;
Ewenczyk, Claire;
Mahlaoui, Nizar;
Touzot, Fabien;
Suarez, Felipe;
Hully, Marie;
Roubertie, Agathe;
Aladjidi, Nathalie;
Tison, François;
Antoine‐Poirel, Hélène

Publication type:

Article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777

By:

Saoura, Makenzie;
Powell, Christopher A.;
Kopajtich, Robert;
Alahmad, Ahmad;
AL‐Balool, Haya H.;
Albash, Buthaina;
Alfadhel, Majid;
Alston, Charlotte L.;
Bertini, Enrico;
Bonnen, Penelope E.;
Bratkovic, Drago;
Carrozzo, Rosalba;
Donati, Maria A.;
Di Nottia, Michela;
Ghezzi, Daniele;
Goldstein, Amy;
Haan, Eric;
Horvath, Rita;
Hughes, Joanne;
Invernizzi, Federica

Publication type:

Article

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773

By:

Fiévet, Alice;
Bellanger, Dorine;
Valence, Stéphanie;
Mobuchon, Lenha;
Afenjar, Alexandra;
Giuliano, Fabienne;
Dubois d'Enghien, Catherine;
Parfait, Béatrice;
Pedespan, Jean‐Michel;
Auger, Nathalie;
Rieunier, Guillaume;
Collet, Agnès;
Burglen, Lydie;
Stoppa‐Lyonnet, Dominique;
Stern, Marc‐Henri

Publication type:

Article

In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942–2019].

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1627, doi. 10.1002/humu.23766

By:

Ekong, Rosemary

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 10, p. 1623, doi. 10.1002/humu.23577
Publication type:: Article