Volume 97; Issue 6

The American Journal of Human Genetics

Volume 97; Issue 6

1

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 513 KB

english, 2015

2

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

3

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Gray, Mary J., Kannu, Peter, Sharma, Swarkar, Neyt, Christine, Zhang, Dongping, Paria, Nandina, Daniel, Philip B., Whetstone, Heather, Sprenger, Hans-Georg, Hammerschmidt, Philipp, Weng, Angela, Dupui

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.50 MB

english, 2015

4

Somatic Activating PIK3CA Mutations Cause Venous Malformation

Limaye, Nisha, Kangas, Jaakko, Mendola, Antonella, Godfraind, Catherine, Schlögel, Matthieu J., Helaers, Raphael, Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.66 MB

english, 2015

5

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Po

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.74 MB

english, 2015

6

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

Niihori, Tetsuya, Ouchi-Uchiyama, Meri, Sasahara, Yoji, Kaneko, Takashi, Hashii, Yoshiko, Irie, Masahiro, Sato, Atsushi, Saito-Nanjo, Yuka, Funayama, Ryo, Nagashima, Takeshi, Inoue, Shin-ichi, Nakayam

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 898 KB

english, 2015

7

Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol

Roman, Tamara S., Marvelle, Amanda F., Fogarty, Marie P., Vadlamudi, Swarooparani, Gonzalez, Arlene J., Buchkovich, Martin L., Huyghe, Jeroen R., Fuchsberger, Christian, Jackson, Anne U., Wu, Ying, Ci

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

8

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.34 MB

english, 2015

9

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1007 KB

english, 2015

10

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

Palamara, Pier Francesco, Francioli, Laurent C., Wilton, Peter R., Genovese, Giulio, Gusev, Alexander, Finucane, Hilary K., Sankararaman, Sriram, Sunyaev, Shamil R., de Bakker, Paul I.W., Wakeley, Joh

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 636 KB

english, 2015

11

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Step

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

12

Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms

Baurecht, Hansjörg, Hotze, Melanie, Brand, Stephan, Büning, Carsten, Cormican, Paul, Corvin, Aiden, Ellinghaus, David, Ellinghaus, Eva, Esparza-Gordillo, Jorge, Fölster-Holst, Regina, Franke, Andre, G

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 51 KB

english, 2015

13

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

14

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 43 KB

english, 2015