Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 5

Results: 20

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 524, doi. 10.1002/humu.23181

By:

Mendes, Marisa I;
Smith, Desirée EC;
Pop, Ana;
Lennertz, Pascal;
Fernandez Ojeda, Matilde R;
Kanhai, Warsha A;
Dooren, Silvy JM;
Anikster, Yair;
Barić, Ivo;
Boelen, Caroline;
Campistol, Jaime;
Boer, Lonneke;
Kariminejad, Ariana;
Kayserili, Hulya;
Roubertie, Agathe;
Verbruggen, Krijn T;
Vianey‐Saban, Christine;
Williams, Monique;
Salomons, Gajja S

Publication type:

Article

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189

By:

Echaniz‐Laguna, Andoni;
Geuens, Thomas;
Petiot, Philippe;
Péréon, Yann;
Adriaenssens, Elias;
Haidar, Mansour;
Capponi, Simona;
Maisonobe, Thierry;
Fournier, Emmanuel;
Dubourg, Odile;
Degos, Bertrand;
Salachas, François;
Lenglet, Timothée;
Eymard, Bruno;
Delmont, Emilien;
Pouget, Jean;
Juntas Morales, Raul;
Goizet, Cyril;
Latour, Philippe;
Timmerman, Vincent

Publication type:

Article

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203

By:

Carlston, Colleen M.;
O'Donnell‐Luria, Anne H.;
Underhill, Hunter R.;
Cummings, Beryl B.;
Weisburd, Ben;
Minikel, Eric V.;
Birnbaum, Daniel P.;
Tvrdik, Tatiana;
MacArthur, Daniel G.;
Mao, Rong

Publication type:

Article

Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 532, doi. 10.1002/humu.23182

By:

Shwan, Nzar A.A.;
Louzada, Sandra;
Yang, Fengtang;
Armour, John A.L.

Publication type:

Article

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206

By:

Issa, Sarah;
Bondurand, Nadege;
Faubert, Emmanuelle;
Poisson, Sylvain;
Lecerf, Laure;
Nitschke, Patrick;
Deggouj, Naima;
Loundon, Natalie;
Jonard, Laurence;
David, Albert;
Sznajer, Yves;
Blanchet, Patricia;
Marlin, Sandrine;
Pingault, Veronique

Publication type:

Article

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 600, doi. 10.1002/humu.23183

By:

Smith, Erica D.;
Radtke, Kelly;
Rossi, Mari;
Shinde, Deepali N.;
Darabi, Sourat;
El‐Khechen, Dima;
Powis, Zöe;
Helbig, Katherine;
Waller, Kendra;
Grange, Dorothy K.;
Tang, Sha;
Farwell Hagman, Kelly D.

Publication type:

Article

TarSeqQC: Quality control on targeted sequencing experiments in R.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 494, doi. 10.1002/humu.23204

By:

Merino, Gabriela A.;
Murua, Yanina A.;
Fresno, Cristóbal;
Sendoya, Juan M.;
Golubicki, Mariano;
Iseas, Soledad;
Coraglio, Mariana;
Podhajcer, Osvaldo L.;
Llera, Andrea S.;
Fernández, Elmer A.

Publication type:

Article

Mutations in the Human Argininosuccinate Synthetase ( ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 471, doi. 10.1002/humu.23184

By:

Diez‐Fernandez, Carmen;
Rüfenacht, Véronique;
Häberle, Johannes

Publication type:

Article

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 540, doi. 10.1002/humu.23186

By:

Yang, Chi‐Fan;
Wang, Chung‐Hsing;
Siong H'ng, Weng;
Chang, Chun‐Ping;
Lin, Wei‐De;
Chen, Yuan‐Tsong;
Wu, Jer‐Yuarn;
Tsai, Fuu‐Jen

Publication type:

Article

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 507, doi. 10.1002/humu.23188

By:

Sleiman, Patrick M.A.;
March, Michael;
Nguyen, Kenny;
Tian, Lifeng;
Pellegrino, Renata;
Hou, Cuiping;
Dridi, Walid;
Sager, Mohamed;
Housawi, Yousef H.;
Hakonarson, Hakon

Publication type:

Article

Once doesn't count: Phenotype-driven gene hunting in cohorts.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 469, doi. 10.1002/humu.23209

By:

Robinson, Peter N.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 5, p. 465, doi. 10.1002/humu.23088
Publication type:: Article

Cover Image, Volume 38, Issue 5.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. i, doi. 10.1002/humu.23228

By:

Gallion, Jonathan;
Koire, Amanda;
Katsonis, Panagiotis;
Schoenegge, Anne‐Marie;
Bouvier, Michel;
Lichtarge, Olivier

Publication type:

Article

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 594, doi. 10.1002/humu.23176

By:

Vulto‐van Silfhout, Anneke T.;
Gilissen, Christian;
Goeman, Jelle J.;
Jansen, Sandra;
Amen‐Hellebrekers, Claudia J.M.;
Bon, Bregje W.M.;
Koolen, David A.;
Sistermans, Erik A.;
Brunner, Han G.;
Brouwer, Arjan P.M.;
Vries, Bert B.A.

Publication type:

Article

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 503, doi. 10.1002/humu.23178

By:

Ohtaka, Kohnosuke;
Fujisawa, Yasuko;
Takada, Fumio;
Hasegawa, Yukihiro;
Miyoshi, Tatsuya;
Hasegawa, Tomonobu;
Miyoshi, Hideaki;
Kameda, Hiraku;
Kurokawa‐Seo, Misuzu;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 548, doi. 10.1002/humu.23190

By:

Mattiske, Tessa;
Moey, Ching;
Vissers, Lisenka E.;
Thorne, Natalie;
Georgeson, Peter;
Bakshi, Madhura;
Shoubridge, Cheryl

Publication type:

Article

Annotation of functional impact of voltage-gated sodium channel mutations.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 485, doi. 10.1002/humu.23191

By:

Hinard, Valérie;
Britan, Aurore;
Schaeffer, Mathieu;
Zahn‐Zabal, Monique;
Thomet, Urs;
Rougier, Jean‐Sébastien;
Bairoch, Amos;
Abriel, Hugues;
Gaudet, Pascale

Publication type:

Article

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196

By:

Kernohan, Kristin D.;
Dyment, David A.;
Pupavac, Mihaela;
Cramer, Zvi;
McBride, Arran;
Bernard, Genevieve;
Straub, Isabella;
Tetreault, Martine;
Hartley, Taila;
Huang, Lijia;
Sell, Erick;
Majewski, Jacek;
Rosenblatt, David S.;
Shoubridge, Eric;
Mhanni, Aziz;
Myers, Tara;
Proud, Virginia;
Vergano, Samanta;
Spangler, Brooke;
Farrow, Emily

Publication type:

Article

Bad blood contaminating germline databases?

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 469, doi. 10.1002/humu.23217

By:

Churpek, Jane E.

Publication type:

Article

Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 569, doi. 10.1002/humu.23193

By:

Gallion, Jonathan;
Koire, Amanda;
Katsonis, Panagiotis;
Schoenegge, Anne‐Marie;
Bouvier, Michel;
Lichtarge, Olivier

Publication type:

Article