Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 8

Results: 18

Skewed X-inactivation and Females with Intellectual Disability.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 717, doi. 10.1002/humu.23030
By:
- Schwartz, Charles E.
Publication type:
Article
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 719, doi. 10.1002/humu.23011
By:
- Tan, Powell Patrick Cheng;
- Rogic, Sanja;
- Zoubarev, Anton;
- McDonald, Cameron;
- Lui, Frances;
- Charathsandran, Gayathiri;
- Jacobson, Matthew;
- Belmadani, Manuel;
- Leong, Justin;
- Rossum, Thea;
- Portales‐Casamar, Elodie;
- Qiao, Ying;
- Calli, Kristina;
- Liu, Xudong;
- Hudson, Melissa;
- Rajcan‐Separovic, Evica;
- Lewis, ME Suzanne;
- Pavlidis, Paul
Publication type:
Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 804, doi. 10.1002/humu.23012
By:
- Fieremans, Nathalie;
- Esch, Hilde;
- Holvoet, Maureen;
- Goethem, Gert;
- Devriendt, Koenraad;
- Rosello, Monica;
- Mayo, Sonia;
- Martinez, Francisco;
- Jhangiani, Shalini;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lupski, James R.;
- Vermeesch, Joris R.;
- Marynen, Peter;
- Froyen, Guy
Publication type:
Article
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 745, doi. 10.1002/humu.23013
By:
- Forny, Patrick;
- Schnellmann, Anne‐Sophie;
- Buerer, Celine;
- Lutz, Seraina;
- Fowler, Brian;
- Froese, D. Sean;
- Baumgartner, Matthias R.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 713, doi. 10.1002/humu.22884
Publication type:
Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 732, doi. 10.1002/humu.23010
By:
- Goos, Jacqueline A.C.;
- Fenwick, Aimee L.;
- Swagemakers, Sigrid M.A.;
- McGowan, Simon J.;
- Knight, Samantha J.L.;
- Twigg, Stephen R.F.;
- Hoogeboom, A. Jeannette M.;
- Dooren, Marieke F.;
- Magielsen, Frank J.;
- Wall, Steven A.;
- Mathijssen, Irene M.J.;
- Wilkie, Andrew O.M.;
- Spek, Peter J.;
- Ouweland, Ans M.W.
Publication type:
Article
Cover Image, Volume 37, Issue 8.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. i, doi. 10.1002/humu.23039
By:
- Vitellius, Géraldine;
- Fagart, Jérôme;
- Delemer, Brigitte;
- Amazit, Larbi;
- Ramos, Nelly;
- Bouligand, Jérôme;
- Billan, Florian;
- Castinetti, Frédéric;
- Guiochon‐Mantel, Anne;
- Trabado, Séverine;
- Lombès, Marc
Publication type:
Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
By:
- Saunier, Chloé;
- Støve, Svein Isungset;
- Popp, Bernt;
- Gérard, Bénédicte;
- Blenski, Marina;
- AhMew, Nicholas;
- Bie, Charlotte;
- Goldenberg, Paula;
- Isidor, Bertrand;
- Keren, Boris;
- Leheup, Bruno;
- Lampert, Laetitia;
- Mignot, Cyril;
- Tezcan, Kamer;
- Mancini, Grazia M.S.;
- Nava, Caroline;
- Wasserstein, Melissa;
- Bruel, Ange‐Line;
- Thevenon, Julien;
- Masurel, Alice
Publication type:
Article
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002
By:
- Riise Stensland, Hilde Monica Frostad;
- Klenow, Helle Bagterp;
- Nguyen, Lam Van;
- Hansen, Gaute Martin;
- Malm, Dag;
- Nilssen, Øivind
Publication type:
Article
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 765, doi. 10.1002/humu.23003
By:
- Souren, Nicole Y.P.;
- Gerdes, Lisa A.;
- Kümpfel, Tania;
- Lutsik, Pavlo;
- Klopstock, Thomas;
- Hohlfeld, Reinhard;
- Walter, Jörn
Publication type:
Article
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
By:
- Srour, Myriam;
- Caron, Véronique;
- Pearson, Toni;
- Nielsen, Sarah B.;
- Lévesque, Sébastien;
- Delrue, Marie‐Ange;
- Becker, Troy A.;
- Hamdan, Fadi F.;
- Kibar, Zoha;
- Sattler, Shannon G.;
- Schneider, Michael C.;
- Bitoun, Pierre;
- Chassaing, Nicolas;
- Rosenfeld, Jill A.;
- Xia, Fan;
- Desai, Sonal;
- Roeder, Elizabeth;
- Kimonis, Virginia;
- Schneider, Adele;
- Littlejohn, Rebecca Okashah
Publication type:
Article
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 776, doi. 10.1002/humu.23005
By:
- Jeanson, Ludovic;
- Thomas, Lucie;
- Copin, Bruno;
- Coste, André;
- Sermet‐Gaudelus, Isabelle;
- Dastot‐Le Moal, Florence;
- Duquesnoy, Philippe;
- Montantin, Guy;
- Collot, Nathalie;
- Tissier, Sylvie;
- Papon, Jean‐François;
- Clement, Annick;
- Louis, Bruno;
- Escudier, Estelle;
- Amselem, Serge;
- Legendre, Marie
Publication type:
Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
By:
- Knaus, Alexej;
- Awaya, Tomonari;
- Helbig, Ingo;
- Afawi, Zaid;
- Pendziwiat, Manuela;
- Abu‐Rachma, Jubran;
- Thompson, Miles D.;
- Cole, David E.;
- Skinner, Steve;
- Annese, Fran;
- Canham, Natalie;
- Schweiger, Michal R.;
- Robinson, Peter N.;
- Mundlos, Stefan;
- Kinoshita, Taroh;
- Munnich, Arnold;
- Murakami, Yoshiko;
- Horn, Denise;
- Krawitz, Peter M.
Publication type:
Article
Enrichment of SNPs in Functional Categories Reveals Genes Affecting Complex Traits.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 820, doi. 10.1002/humu.23007
By:
- Zhao, Huiying;
- Fan, Dongsheng;
- Nyholt, Dale R;
- Yang, Yuedong
Publication type:
Article
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 727, doi. 10.1002/humu.22998
By:
- Reish, Orit;
- Aspit, Liam;
- Zouella, Arielle;
- Roth, Yehudah;
- Polak‐Charcon, Sylvie;
- Baboushkin, Tatiana;
- Benyamini, Lilach;
- Scheetz, Todd E.;
- Mussaffi, Huda;
- Sheffield, Val C.;
- Parvari, Ruti
Publication type:
Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 812, doi. 10.1002/humu.22999
By:
- Sommen, Manou;
- Schrauwen, Isabelle;
- Vandeweyer, Geert;
- Boeckx, Nele;
- Corneveaux, Jason J.;
- Ende, Jenneke;
- Boudewyns, An;
- Leenheer, Els;
- Janssens, Sandra;
- Claes, Kathleen;
- Verstreken, Margriet;
- Strenzke, Nicola;
- Predöhl, Friederike;
- Wuyts, Wim;
- Mortier, Geert;
- Bitner‐Glindzicz, Maria;
- Moser, Tobias;
- Coucke, Paul;
- Huentelman, Matthew J.;
- Camp, Guy
Publication type:
Article
Closing the gap in Genetic Data Analysis pipelines with ASPIREdb.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 717, doi. 10.1002/humu.23029
By:
- Swaminathan, Jawahar
Publication type:
Article
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 794, doi. 10.1002/humu.23008
By:
- Vitellius, Géraldine;
- Fagart, Jérôme;
- Delemer, Brigitte;
- Amazit, Larbi;
- Ramos, Nelly;
- Bouligand, Jérôme;
- Billan, Florian;
- Castinetti, Frédéric;
- Guiochon‐Mantel, Anne;
- Trabado, Séverine;
- Lombès, Marc
Publication type:
Article