Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 6

Results: 16

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419

By:

Manheimer, Kathryn B.;
Patel, Nihir;
Richter, Felix;
Gorham, Joshua;
Tai, Angela C.;
Homsy, Jason;
Boskovski, Marko T.;
Parfenov, Michael;
Goldmuntz, Elizabeth;
Chung, Wendy K.;
Brueckner, Martina;
Tristani-Firouzi, Martin;
Srivastava, Deepak;
Seidman, Jonathan G.;
Seidman, Christine E.;
Gelb, Bruce D.;
Sharp, Andrew J.

Publication type:

Article

Genotype-specific progression of hereditary medullary thyroid cancer.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 860, doi. 10.1002/humu.23430

By:

Machens, Andreas;
Lorenz, Kerstin;
Weber, Frank;
Dralle, Henning

Publication type:

Article

Yet another database?

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 755, doi. 10.1002/humu.23429

By:

Dunnen, Johan T.

Publication type:

Article

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 790, doi. 10.1002/humu.23428

By:

Vuillaume, Marie-Laure;
Moizard, Marie-Pierre;
Rossignol, Sylvie;
Cottereau, Edouard;
Vonwill, Sandrine;
Alessandri, Jean-Luc;
Busa, Tiffany;
Colin, Estelle;
Gérard, Marion;
Giuliano, Fabienne;
Lambert, Laetitia;
Lefevre, Mathilde;
Kotecha, Udhaya;
Nampoothiri, Sheela;
Netchine, Irène;
Raynaud, Martine;
Brioude, Frédéric;
Toutain, Annick

Publication type:

Article

Inferring the effect of genomic variation in the new era of genomics.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 756, doi. 10.1002/humu.23427

By:

Chakravorty, Samya;
Hegde, Madhuri

Publication type:

Article

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 827, doi. 10.1002/humu.23426

By:

Nguyen, Thi Tuyet Mai;
Mahida, Sonal;
Smith-Hicks, Constance;
Campeau, Philippe M.

Publication type:

Article

Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer risk.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 851, doi. 10.1002/humu.23425

By:

Korbolina, Elena E.;
Brusentsov, Ilja I.;
Bryzgalov, Leonid O.;
Leberfarb, Elena Yu;
Degtyareva, Arina O.;
Merkulova, Tatyana I.

Publication type:

Article

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 834, doi. 10.1002/humu.23424

By:

Antonellis, Anthony;
Oprescu, Stephanie N.;
Griffin, Laurie B.;
Heider, Amer;
Amalfitano, Andrea;
Innis, Jeffrey W.

Publication type:

Article

STX2 is a causative gene for nonobstructive azoospermia.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 830, doi. 10.1002/humu.23423

By:

Nakamura, Shigeru;
Kobori, Yoshitomo;
Ueda, Yoshihiko;
Tanaka, Yoko;
Ishikawa, Hiromichi;
Yoshida, Atsumi;
Katsumi, Momori;
Saito, Kazuki;
Nakamura, Akie;
Ogata, Tsutomu;
Okada, Hiroshi;
Nakai, Hideo;
Miyado, Mami;
Fukami, Maki

Publication type:

Article

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 806, doi. 10.1002/humu.23422

By:

Shen, Lishuang;
Attimonelli, Marcella;
Bai, Renkui;
Lott, Marie T.;
Wallace, Douglas C.;
Falk, Marni J.;
Gai, Xiaowu

Publication type:

Article

Neurofibromin (NF1) genetic variant structure--function analyses using a full-length mouse cDNA.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 816, doi. 10.1002/humu.23421

By:

Wallis, Deeann;
Li, Kairong;
Lui, Hui;
Hu, Ke;
Chen, Mei-Jan;
Li, Jing;
Kang, Jungsoon;
Das, Shamik;
Korf, Bruce R.;
Kesterson, Robert A.

Publication type:

Article

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 822, doi. 10.1002/humu.23420

By:

Pagnamenta, Alistair T.;
Murakami, Yoshiko;
Anzilotti, Consuelo;
Titheradge, Hannah;
Oates, Adam J.;
Morton, Jenny;
Kinoshita, Taroh;
Kini, Usha;
Taylor, Jenny C.

Publication type:

Article

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 774, doi. 10.1002/humu.23418

By:

Bourgeois, Patrice;
Esteve, Clothilde;
Chaix, Charlène;
Béroud, Christophe;
Lévy, Nicolas;
Fabre, Alexandre;
Badens, Catherine

Publication type:

Article

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 811, doi. 10.1002/humu.23417

By:

Sukenik Halevy, Rivka;
Chien, Huan-Chieh;
Heinz, Bo;
Bamshad, Michael J.;
Nickerson, Deborah A.;
Kircher, Martin;
Ahituv, Nadav

Publication type:

Article

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

Published in:

Human Mutation, 2018, v. 39, n. 6, p. 841, doi. 10.1002/humu.23416

By:

Schindlbeck, Ulrike;
Wittmann, Thomas;
Höppner, Stefanie;
Kinting, Susanna;
Liebisch, Gerhard;
Hegermann, Jan;
Griese, Matthias

Publication type:

Article

Erratum.

Published in:: Human Mutation, 2018, v. 39, n. 6, p. 882, doi. 10.1002/humu.23410
Publication type:: Article