Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 2

Results: 15

<italic>EYS</italic> mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 177, doi. 10.1002/humu.23371

By:

Messchaert, Muriël;
Haer‐Wigman, Lonneke;
Khan, Muhammad I.;
Cremers, Frans P. M.;
Collin, Rob W. J.

Publication type:

Article

Cover Image, Volume 39, Issue 2.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. i, doi. 10.1002/humu.23391

By:

Signorino, Giulia;
Covaceuszach, Sonia;
Bozzi, Manuela;
Hübner, Wolfgang;
Mönkemöller, Viola;
Konarev, Petr V.;
Cassetta, Alberto;
Brancaccio, Andrea;
Sciandra, Francesca

Publication type:

Article

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 197, doi. 10.1002/humu.23374

By:

Kernohan, Kristin D.;
Hartley, Taila;
Alirezaie, Najmeh;
Care4Rare Canada Consortium;
Robinson, Peter N.;
Dyment, David A.;
Boycott, Kym M.

Publication type:

Article

Inactivation of <italic>AMMECR1</italic> is associated with growth, bone, and heart alterations.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 281, doi. 10.1002/humu.23373

By:

Moysés‐Oliveira, Mariana;
Giannuzzi, Giuliana;
Fish, Richard J.;
Rosenfeld, Jill A.;
Petit, Florence;
Soares, Maria de Fatima;
Kulikowski, Leslie Domenici;
Di‐Battista, Adriana;
Zamariolli, Malú;
Xia, Fan;
Liehr, Thomas;
Kosyakova, Nadezda;
Carvalheira, Gianna;
Parker, Michael;
Seaby, Eleanor G.;
Ennis, Sarah;
Gilbert, Rodney D.;
Hagelstrom, R. Tanner;
Cremona, Maria L.;
Li, Wenhui L.

Publication type:

Article

Structural and functional differences in <italic>PHOX2B</italic> frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 219, doi. 10.1002/humu.23365

By:

Di Lascio, Simona;
Benfante, Roberta;
Di Zanni, Eleonora;
Cardani, Silvia;
Adamo, Annalisa;
Fornasari, Diego;
Ceccherini, Isabella;
Bachetti, Tiziana

Publication type:

Article

A dystroglycan mutation (p.Cys667Phe) associated to muscle‐eye‐brain disease with multicystic leucodystrophy results in ER‐retention of the mutant protein.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 266, doi. 10.1002/humu.23370

By:

Signorino, Giulia;
Covaceuszach, Sonia;
Bozzi, Manuela;
Hübner, Wolfgang;
Mönkemöller, Viola;
Konarev, Petr V.;
Cassetta, Alberto;
Brancaccio, Andrea;
Sciandra, Francesca

Publication type:

Article

A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368

By:

Salpietro, Vincenzo;
Efthymiou, Stephanie;
Manole, Andreea;
Maurya, Bhawana;
Wiethoff, Sarah;
Ashokkumar, Balasubramaniem;
Cutrupi, Maria Concetta;
Dipasquale, Valeria;
Manti, Sara;
Botia, Juan A.;
Ryten, Mina;
Vandrovcova, Jana;
Bello, Oscar D.;
Bettencourt, Conceicao;
Mankad, Kshitij;
Mukherjee, Ashim;
Mutsuddi, Mousumi;
Houlden, Henry

Publication type:

Article

<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367

By:

Mori, Takayasu;
Yousefzadeh, Matthew J.;
Faridounnia, Maryam;
Chong, Jessica X.;
Hisama, Fuki M.;
Hudgins, Louanne;
Mercado, Gabriela;
Wade, Erin A.;
Barghouthy, Amira S.;
Lee, Lin;
Martin, George M.;
Nickerson, Deborah A.;
Bamshad, Michael J.;
University of Washington Center for Mendelian Genomics;
Niedernhofer, Laura J.;
Oshima, Junko

Publication type:

Article

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 237, doi. 10.1002/humu.23366

By:

Kimble, Danielle C.;
Lach, Francis P.;
Gregg, Siobhan Q.;
Donovan, Frank X.;
Flynn, Elizabeth K.;
Kamat, Aparna;
Young, Alice;
Vemulapalli, Meghana;
Thomas, James W.;
Mullikin, James C.;
Auerbach, Arleen D.;
Smogorzewska, Agata;
Chandrasekharappa, Settara C.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 2, p. 173, doi. 10.1002/humu.23323
Publication type:: Article

A nonstop variant in <italic>REEP1</italic> causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 193, doi. 10.1002/humu.23369

By:

Bock, Andrea S.;
Günther, Sven;
Mohr, Julia;
Goldberg, Lisa V.;
Jahic, Amir;
Klisch, Cornelia;
Hübner, Christian A.;
Biskup, Saskia;
Beetz, Christian

Publication type:

Article

Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 210, doi. 10.1002/humu.23360

By:

Majtan, Tomas;
Park, Insun;
Bublil, Erez M.;
Kraus, Jan P.

Publication type:

Article

Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357

By:

Li, Melody;
Maljevic, Snezana;
Phillips, A. Marie;
Petrovski, Slave;
Hildebrand, Michael S.;
Burgess, Rosemary;
Mount, Therese;
Zara, Federico;
Striano, Pasquale;
Schubert, Julian;
Thiele, Holger;
Nürnberg, Peter;
Wong, Michael;
Weisenberg, Judith L.;
Thio, Liu Lin;
Lerche, Holger;
Scheffer, Ingrid E.;
Berkovic, Samuel F.;
Petrou, Steven;
Reid, Christopher A.

Publication type:

Article

Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 302, doi. 10.1002/humu.23364

By:

Daga, Sergio;
Baldassarri, Margherita;
Lo Rizzo, Caterina;
Fallerini, Chiara;
Imperatore, Valentina;
Longo, Ilaria;
Frullanti, Elisa;
Landucci, Elisa;
Massella, Laura;
Pecoraro, Carmine;
Garosi, Guido;
Ariani, Francesca;
Mencarelli, Maria Antonietta;
Mari, Francesca;
Renieri, Alessandra;
Pinto, Anna Maria

Publication type:

Article

Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 292, doi. 10.1002/humu.23358

By:

Zhao, Huiying;
Yang, Yuedong;
Lu, Yutong;
Mort, Matthew;
Cooper, David N.;
Zuo, Zhiyi;
Zhou, Yaoqi

Publication type:

Article