Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 4

Results: 14

A Mechanistic Link between L1 Retrotransposition and Chromothripsis.
Published in:
2016
By:
- Chen, Jian‐Min;
- Cooper, David N.
Publication type:
Other
Issue Information.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 325, doi. 10.1002/humu.22872
Publication type:
Article
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 371, doi. 10.1002/humu.22948
By:
- Ma, Alan S.;
- Grigg, John R.;
- Ho, Gladys;
- Prokudin, Ivan;
- Farnsworth, Elizabeth;
- Holman, Katherine;
- Cheng, Anson;
- Billson, Frank A.;
- Martin, Frank;
- Fraser, Clare;
- Mowat, David;
- Smith, James;
- Christodoulou, John;
- Flaherty, Maree;
- Bennetts, Bruce;
- Jamieson, Robyn V.
Publication type:
Article
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 350, doi. 10.1002/humu.22949
By:
- Shinmura, Kazuya;
- Kato, Hisami;
- Goto, Masanori;
- Yamada, Hidetaka;
- Tao, Hong;
- Nakamura, Satoki;
- Sugimura, Haruhiko
Publication type:
Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 359, doi. 10.1002/humu.22960
By:
- Filges, Isabel;
- Bruder, Elisabeth;
- Brandal, Kristin;
- Meier, Stephanie;
- Undlien, Dag Erik;
- Waage, Trine Rygvold;
- Hoesli, Irene;
- Schubach, Max;
- Beer, Tjaart;
- Sheng, Ying;
- Hoeller, Sylvia;
- Schulzke, Sven;
- Røsby, Oddveig;
- Miny, Peter;
- Tercanli, Sevgi;
- Oppedal, Truls;
- Meyer, Peter;
- Selmer, Kaja Kristine;
- Strømme, Petter
Publication type:
Article
Cover Image, Volume 37, Issue 4.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. NA, doi. 10.1002/humu.22985
Publication type:
Article
ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 337, doi. 10.1002/humu.22950
By:
- Zhao, Min;
- Liu, Yining;
- O'Mara, Tracy A
Publication type:
Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 364, doi. 10.1002/humu.22951
By:
- Ekong, Rosemary;
- Nellist, Mark;
- Hoogeveen‐Westerveld, Marianne;
- Wentink, Marjolein;
- Panzer, Jessica;
- Sparagana, Steven;
- Emmett, Warren;
- Dawson, Natalie L.;
- Malinge, Marie Claire;
- Nabbout, Rima;
- Carbonara, Caterina;
- Barberis, Marco;
- Padovan, Sergio;
- Futema, Marta;
- Plagnol, Vincent;
- Humphries, Steve E.;
- Migone, Nicola;
- Povey, Sue
Publication type:
Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952
By:
- Isidor, Bertrand;
- Küry, Sébastien;
- Rosenfeld, Jill A.;
- Besnard, Thomas;
- Schmitt, Sébastien;
- Joss, Shelagh;
- Davies, Sally J;
- Roger Lebel, Robert;
- Henderson, Alex;
- Schaaf, Christian P.;
- Streff, Haley E.;
- Yang, Yaping;
- Jain, Vani;
- Chida, Nodoka;
- Latypova, Xenia;
- Caignec, Cédric Le;
- Cogné, Benjamin;
- Mercier, Sandra;
- Vincent, Marie;
- Colin, Estelle
Publication type:
Article
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 385, doi. 10.1002/humu.22953
By:
- Nazaryan‐Petersen, Lusine;
- Bertelsen, Birgitte;
- Bak, Mads;
- Jønson, Lars;
- Tommerup, Niels;
- Hancks, Dustin C;
- Tümer, Zeynep
Publication type:
Article
VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 344, doi. 10.1002/humu.22954
By:
- Schaafsma, Gerard C. P.;
- Vihinen, Mauno
Publication type:
Article
Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 331, doi. 10.1002/humu.22956
By:
- Moghadasi, Setareh;
- Eccles, Diana M.;
- Devilee, Peter;
- Vreeswijk, Maaike P.G.;
- Asperen, Christi J.
Publication type:
Article
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 396, doi. 10.1002/humu.22957
By:
- Amirav, Israel;
- Wallmeier, Julia;
- Loges, Niki T.;
- Menchen, Tabea;
- Pennekamp, Petra;
- Mussaffi, Huda;
- Abitbul, Revital;
- Avital, Avraham;
- Bentur, Lea;
- Dougherty, Gerard W.;
- Nael, Elias;
- Lavie, Moran;
- Olbrich, Heike;
- Werner, Claudius;
- Kintner, Chris;
- Omran, Heymut
Publication type:
Article
Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 406, doi. 10.1002/humu.22958
By:
- Oetting, William S.;
- Brenner, Steven E.;
- Brookes, Anthony J.;
- Greenblatt, Marc S.;
- Hart, Reece K.;
- Karchin, Rachel;
- Sunyaev, Shamil R.;
- Taschner, Peter E.
Publication type:
Article