Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 5

Results: 15

Text‐mined phenotype annotation and vector‐based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 643, doi. 10.1002/humu.23413

By:

Saklatvala, Jake R.;
Dand, Nick;
Simpson, Michael A.

Publication type:

Article

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 709, doi. 10.1002/humu.23408

By:

Slamova, Zuzana;
Nazaryan‐Petersen, Lusine;
Mehrjouy, Mana M.;
Drabova, Jana;
Hancarova, Miroslava;
Marikova, Tatana;
Novotna, Drahuse;
Vlckova, Marketa;
Vlckova, Zdenka;
Bak, Mads;
Zemanova, Zuzana;
Tommerup, Niels;
Sedlacek, Zdenek

Publication type:

Article

Cover Image, Volume 39, Issue 5.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. i, doi. 10.1002/humu.23432

By:

Alka, Kumari;
Casey, Joseph R.

Publication type:

Article

Secretion of wild‐type factor IX upon readthrough over <italic>F9</italic> pre‐peptide nonsense mutations causing hemophilia B.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 702, doi. 10.1002/humu.23404

By:

Ferrarese, Mattia;
Testa, Maria Francesca;
Balestra, Dario;
Bernardi, Francesco;
Pinotti, Mirko;
Branchini, Alessio

Publication type:

Article

A functional polymorphism in the <italic>pre‐miR‐146a</italic> gene is associated with the risk of nonsyndromic orofacial cleft.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 742, doi. 10.1002/humu.23415

By:

Pan, Yongchu;
Li, Dandan;
Lou, Shu;
Zhang, Chi;
Du, Yifei;
Jiang, Hongbing;
Zhang, Weibing;
Ma, Lan;
Wang, Lin

Publication type:

Article

Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 593, doi. 10.1002/humu.23406

By:

Rebbeck, Timothy R.;
Friebel, Tara M.;
Friedman, Eitan;
Hamann, Ute;
Huo, Dezheng;
Kwong, Ava;
Olah, Edith;
Olopade, Olufunmilayo I.;
Solano, Angela R.;
Teo, Soo‐Hwang;
Thomassen, Mads;
Weitzel, Jeffrey N.;
Chan, T. L.;
Couch, Fergus J.;
Goldgar, David E.;
Kruse, Torben A.;
Palmero, Edenir Inêz;
Park, Sue Kyung;
Torres, Diana;
van Rensburg, Elizabeth J.

Publication type:

Article

Mitogenomic differences between the normal and tumor cells of colorectal cancer patients.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 691, doi. 10.1002/humu.23402

By:

Skonieczna, Katarzyna;
Malyarchuk, Boris;
Jawień, Arkadiusz;
Marszałek, Andrzej;
Banaszkiewicz, Zbigniew;
Jarmocik, Paweł;
Grzybowski, Tomasz

Publication type:

Article

Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 635, doi. 10.1002/humu.23412

By:

Saghira, Cima;
Bis, Dana M.;
Stanek, David;
Strickland, Alleene;
Herrmann, David N.;
Reilly, Mary M.;
Scherer, Steven S.;
Shy, Michael E.;
Inherited Neuropathy Consortium;
Züchner, Stephan

Publication type:

Article

The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411

By:

Colombo, Mara;
Lòpez‐Perolio, Irene;
Meeks, Huong D.;
Caleca, Laura;
Parsons, Michael T.;
Li, Hongyan;
De Vecchi, Giovanna;
Tudini, Emma;
Foglia, Claudia;
Mondini, Patrizia;
Manoukian, Siranoush;
Behar, Raquel;
Garcia, Encarna B. Gómez;
Meindl, Alfons;
Montagna, Marco;
Niederacher, Dieter;
Schmidt, Ane Y.;
Varesco, Liliana;
Wappenschmidt, Barbara;
Bolla, Manjeet K.

Publication type:

Article

MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 717, doi. 10.1002/humu.23409

By:

Sheikh, Taimoor I.;
Harripaul, Ricardo;
Ayub, Muhammad;
Vincent, John B.

Publication type:

Article

A mutation update on the LDS‐associated genes <italic>TGFB2/3</italic> and <italic>SMAD2/3</italic>.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 621, doi. 10.1002/humu.23407

By:

Schepers, Dorien;
Tortora, Giada;
Morisaki, Hiroko;
MacCarrick, Gretchen;
Lindsay, Mark;
Liang, David;
Mehta, Sarju G.;
Hague, Jennifer;
Verhagen, Judith;
van de Laar, Ingrid;
Wessels, Marja;
Detisch, Yvonne;
van Haelst, Mieke;
Baas, Annette;
Lichtenbelt, Klaske;
Braun, Kees;
van der Linde, Denise;
Roos‐Hesselink, Jolien;
McGillivray, George;
Meester, Josephina

Publication type:

Article

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 653, doi. 10.1002/humu.23403

By:

Paff, Tamara;
Kooi, Irsan E.;
Moutaouakil, Youssef;
Riesebos, Elise;
Sistermans, Erik A.;
Daniels, Hans J. M. A.;
Weiss, Janneke M. M.;
Niessen, Hans H. W. M.;
Haarman, Eric G.;
Pals, Gerard;
Micha, Dimitra

Publication type:

Article

Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 676, doi. 10.1002/humu.23401

By:

Alka, Kumari;
Casey, Joseph R.

Publication type:

Article

Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400

By:

Jordan, Valerie K.;
Fregeau, Brieana;
Ge, Xiaoyan;
Giordano, Jessica;
Wapner, Ronald J.;
Balci, Tugce B.;
Carter, Melissa T.;
Bernat, John A.;
Moccia, Amanda N.;
Srivastava, Anshika;
Martin, Donna M.;
Bielas, Stephanie L.;
Pappas, John;
Svoboda, Melissa D.;
Rio, Marlène;
Boddaert, Nathalie;
Cantagrel, Vincent;
Lewis, Andrea M.;
Scaglia, Fernando;
Undiagnosed Diseases Network

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 5, p. 589, doi. 10.1002/humu.23326
Publication type:: Article