Volume 37; Issue 4

Main
Human Mutation
Volume 37; Issue 4

Human Mutation

Volume 37; Issue 4

1

Cover Image, Volume 37, Issue 4

Journal:

Year:

2016

File:

PDF, 377 KB

2016

2

Issue Information

Journal:

Year:

2016

Language:

english

File:

PDF, 388 KB

english, 2016

3

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

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, Christodou

Journal:

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

4

ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes

Zhao, Min, Liu, Yining, O'Mara, Tracy A

Journal:

Year:

2016

Language:

english

File:

PDF, 1.57 MB

english, 2016

5

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

Nazaryan-Petersen, Lusine, Bertelsen, Birgitte, Bak, Mads, Jønson, Lars, Tommerup, Niels, Hancks, Dustin C, Tümer, Zeynep

Journal:

Year:

2016

Language:

english

File:

PDF, 1.17 MB

english, 2016

6

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

Oetting, William S., Brenner, Steven E., Brookes, Anthony J., Greenblatt, Marc S., Hart, Reece K., Karchin, Rachel, Sunyaev, Shamil R., Taschner, Peter E.

Journal:

Year:

2016

Language:

english

File:

PDF, 147 KB

english, 2016

7

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, S

Journal:

Year:

2016

Language:

english

File:

PDF, 1.76 MB

english, 2016

8

A Mechanistic Link between L1 Retrotransposition and Chromothripsis

Chen, Jian-Min, Cooper, David N.

Journal:

Year:

2016

Language:

english

File:

PDF, 69 KB

english, 2016

9

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

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.

Journal:

Year:

2016

Language:

english

File:

PDF, 285 KB

english, 2016

10

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology

Schaafsma, Gerard C. P., Vihinen, Mauno

Journal:

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

11

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

Moghadasi, Setareh, Eccles, Diana M., Devilee, Peter, Vreeswijk, Maaike P.G., van Asperen, Christi J.

Journal:

Year:

2016

Language:

english

File:

PDF, 320 KB

english, 2016

12

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Ekong, Rosemary, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbon

Journal:

Year:

2016

Language:

english

File:

PDF, 420 KB

english, 2016

13

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

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, Olb

Journal:

Year:

2016

Language:

english

File:

PDF, 1.30 MB

english, 2016

14

Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population

Shinmura, Kazuya, Kato, Hisami, Goto, Masanori, Yamada, Hidetaka, Tao, Hong, Nakamura, Satoki, Sugimura, Haruhiko

Journal:

Year:

2016

Language:

english

File:

PDF, 549 KB

english, 2016