Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 7

Results: 18

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 880, doi. 10.1002/humu.23232

By:

Srebniak, Malgorzata I.;
Knapen, Maarten F.C.M.;
Polak, Marike;
Joosten, Marieke;
Diderich, Karin E.M.;
Govaerts, Lutgarde C.P.;
Boter, Marjan;
Kromosoeto, Joan N.R.;
Hassel, Daniella Aloysia C.M.;
Huijbregts, Gido;
IJcken, Wilfred F.J.;
Heydanus, Roger;
Dijkman, Anneke;
Toolenaar, Toon;
Vries, Femke A.T.;
Knijnenburg, Jeroen;
Go, Attie T.J.I.;
Galjaard, Robert‐Jan H.;
Opstal, Diane

Publication type:

Article

The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 863, doi. 10.1002/humu.23240

By:

Gupta, Sapna;
Wang, Liqun;
Kruger, Warren D.

Publication type:

Article

Assessment of variant pathogenicity in a highly admixed population.

Published in:

2017

By:

Guryev, Victor

Publication type:

Other

Prenatal diagnosis: Down syndrome or more?

Published in:

2017

By:

Jackson, Laird G.

Publication type:

Other

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 849, doi. 10.1002/humu.23243

By:

Lualdi, Susanna;
Del Zotto, Genny;
Zegarra‐Moran, Olga;
Pedemonte, Nicoletta;
Corsolini, Fabio;
Bruschi, Maurizio;
Tomati, Valeria;
Amico, Giulia;
Candiano, Giovanni;
Dardis, Andrea;
Cooper, David N.;
Filocamo, Mirella

Publication type:

Article

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 805, doi. 10.1002/humu.23219

By:

Tanigawa, Junpei;
Mimatsu, Haruka;
Mizuno, Seiji;
Okamoto, Nobuhiko;
Fukushi, Daisuke;
Tominaga, Koji;
Kidokoro, Hiroyuki;
Muramatsu, Yukako;
Nishi, Eriko;
Nakamura, Shota;
Motooka, Daisuke;
Nomura, Noriko;
Hayasaka, Kiyoshi;
Niihori, Tetsuya;
Aoki, Yoko;
Nabatame, Shin;
Hayakawa, Masahiro;
Natsume, Jun;
Ozono, Keiichi;
Kinoshita, Taroh

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 7, p. 745, doi. 10.1002/humu.23094
Publication type:: Article

HLA-HD: An accurate HLA typing algorithm for next-generation sequencing data.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 788, doi. 10.1002/humu.23230

By:

Kawaguchi, Shuji;
Higasa, Koichiro;
Shimizu, Masakazu;
Yamada, Ryo;
Matsuda, Fumihiko

Publication type:

Article

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 764, doi. 10.1002/humu.23233

By:

Astuti, Dewi;
Sabir, Ataf;
Fulton, Piers;
Zatyka, Malgorzata;
Williams, Denise;
Hardy, Carol;
Milan, Gabriella;
Favaretto, Francesca;
Yu‐Wai‐Man, Patrick;
Rohayem, Julia;
Heredia, Miguel;
Hershey, Tamara;
Tranebjaerg, Lisbeth;
Chen, Jian‐Hua;
Chaussenot, Annabel;
Nunes, Virginia;
Marshall, Bess;
McAfferty, Susan;
Tillmann, Vallo;
Maffei, Pietro

Publication type:

Article

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 839, doi. 10.1002/humu.23236

By:

Schaafsma, Gerard C. P.;
Vihinen, Mauno

Publication type:

Article

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 889, doi. 10.1002/humu.23237

By:

Povysil, Gundula;
Tzika, Antigoni;
Vogt, Julia;
Haunschmid, Verena;
Messiaen, Ludwine;
Zschocke, Johannes;
Klambauer, Günter;
Hochreiter, Sepp;
Wimmer, Katharina

Publication type:

Article

Cover Image, Volume 38, Issue 7.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. i, doi. 10.1002/humu.23273

By:

Tanigawa, Junpei;
Mimatsu, Haruka;
Mizuno, Seiji;
Okamoto, Nobuhiko;
Fukushi, Daisuke;
Tominaga, Koji;
Kidokoro, Hiroyuki;
Muramatsu, Yukako;
Nishi, Eriko;
Nakamura, Shota;
Motooka, Daisuke;
Nomura, Noriko;
Hayasaka, Kiyoshi;
Niihori, Tetsuya;
Aoki, Yoko;
Nabatame, Shin;
Hayakawa, Masahiro;
Natsume, Jun;
Ozono, Keiichi;
Kinoshita, Taroh

Publication type:

Article

Exomic variants of an elderly cohort of Brazilians in the ABraOM database.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 751, doi. 10.1002/humu.23220

By:

Naslavsky, Michel Satya;
Yamamoto, Guilherme Lopes;
Almeida, Tatiana Ferreira;
Ezquina, Suzana A. M.;
Sunaga, Daniele Yumi;
Pho, Nam;
Bozoklian, Daniel;
Sandberg, Tatiana Orli Milkewitz;
Brito, Luciano Abreu;
Lazar, Monize;
Bernardo, Danilo Vicensotto;
Amaro, Edson;
Duarte, Yeda A. O.;
Lebrão, Maria Lúcia;
Passos‐Bueno, Maria Rita;
Zatz, Mayana

Publication type:

Article

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 816, doi. 10.1002/humu.23221

By:

Raju, Praveen K;
Satishchandra, Parthasarathy;
Nayak, Sourav;
Iyer, Vishwanathan;
Sinha, Sanjib;
Anand, Anuranjan

Publication type:

Article

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 870, doi. 10.1002/humu.23223

By:

Borràs, Daniel M.;
Vossen, Rolf H. A. M.;
Liem, Michael;
Buermans, Henk P. J.;
Dauwerse, Hans;
Heusden, Dave;
Gansevoort, Ron T.;
Dunnen, Johan T.;
Janssen, Bart;
Peters, Dorien J. M.;
Losekoot, Monique;
Anvar, Seyed Yahya

Publication type:

Article

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 798, doi. 10.1002/humu.23224

By:

Pantaleoni, Francesca;
Lev, Dorit;
Cirstea, Ion C.;
Motta, Marialetizia;
Lepri, Francesca Romana;
Bottero, Lisabianca;
Cecchetti, Serena;
Linger, Ilan;
Paolacci, Stefano;
Flex, Elisabetta;
Novelli, Antonio;
Carè, Alessandra;
Ahmadian, Mohammad R.;
Stellacci, Emilia;
Tartaglia, Marco

Publication type:

Article

Genetic variants in microRNAs and their binding sites within gene 3′UTRs associate with susceptibility to age-related macular degeneration.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 827, doi. 10.1002/humu.23226

By:

Ghanbari, Mohsen;
Erkeland, Stefan J.;
Xu, Lei;
Colijn, Johanna M.;
Franco, Oscar H.;
Dehghan, Abbas;
Klaver, Caroline C. W.;
Meester‐Smoor, Magda A.

Publication type:

Article

DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 778, doi. 10.1002/humu.23227

By:

Pandey, Ram Vinay;
Pabinger, Stephan;
Kriegner, Albert;
Weinhäusel, Andreas

Publication type:

Article