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Volume 93; Issue 1

The American Journal of Human Genetics

Volume 93; Issue 1

1

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2013

2

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Ga

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2013

3

General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies

Lee, Seunggeun, Teslovich, Tanya M., Boehnke, Michael, Lin, Xihong

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 408 KB

english, 2013

4

Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations

Ko, Wen-Ya, Rajan, Prianka, Gomez, Felicia, Scheinfeldt, Laura, An, Ping, Winkler, Cheryl A., Froment, Alain, Nyambo, Thomas B., Omar, Sabah A., Wambebe, Charles, Ranciaro, Alessia, Hirbo, Jibril B.,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2013

5

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Roosing, Susanne, Rohrschneider, Klaus, Beryozkin, Avigail, Sharon, Dror, Weisschuh, Nicole, Staller, Jennifer, Kohl, Susanne, Zelinger, Lina, Peters, Theo A., Neveling, Kornelia, Strom, Tim M., van d

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2013

6

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle

Guo, Yu, Wei, Xiaomu, Das, Jishnu, Grimson, Andrew, Lipkin, Steven M., Clark, Andrew G., Yu, Haiyuan

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 763 KB

english, 2013

7

Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment

Powers, Natalie R., Eicher, John D., Butter, Falk, Kong, Yong, Miller, Laura L., Ring, Susan M., Mann, Matthias, Gruen, Jeffrey R.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2013

8

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 898 KB

english, 2013

9

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

Chudasama, Kishan Kumar, Winnay, Jonathon, Johansson, Stefan, Claudi, Tor, König, Rainer, Haldorsen, Ingfrid, Johansson, Bente, Woo, Ju Rang, Aarskog, Dagfinn, Sagen, Jørn V., Kahn, C. Ronald, Molven,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2013

10

Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism

Gamsiz, Ece D., Viscidi, Emma W., Frederick, Abbie M., Nagpal, Shailender, Sanders, Stephan J., Murtha, Michael T., Schmidt, Michael, Triche, Elizabeth W., Geschwind, Daniel H., State, Matthew W., Ist

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 915 KB

english, 2013

11

Long Runs of Homozygosity Are Enriched for Deleterious Variation

Szpiech, Zachary A., Xu, Jishu, Pemberton, Trevor J., Peng, Weiping, Zöllner, Sebastian, Rosenberg, Noah A., Li, Jun Z.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 489 KB

english, 2013

12

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hiroto

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 2.45 MB

english, 2013

13

Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk

Foo, Jia Nee, Smedby, Karin E., Akers, Nicholas K., Berglund, Mattias, Irwan, Ishak D., Jia, Xiaoming, Li, Yi, Conde, Lucia, Darabi, Hatef, Bracci, Paige M., Melbye, Mads, Adami, Hans-Olov, Glimelius,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 340 KB

english, 2013

14

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Azeem, Zahid, Antonellis, Patrick J., Pollock, Lana M., Khan, Saadullah, Irfanullah,, Andrade-Elizondo, Paula B., Chiu, Ilene, Adams, Mark D., Basit, Sulm

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 988 KB

english, 2013

15

Mobile DNA: Finding Treasure in Junk

Batzer, Mark A.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 35 KB

english, 2013

16

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 799 KB

english, 2013

17

Mutations in PIK3R1 Cause SHORT Syndrome

Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilb

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2013

18

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 43 KB

english, 2013

19

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 45 KB

english, 2013

20

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2013

21

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

Arndt, Anne-Karin, Schafer, Sebastian, Drenckhahn, Jorg-Detlef, Sabeh, M. Khaled, Plovie, Eva R., Caliebe, Almuth, Klopocki, Eva, Musso, Gabriel, Werdich, Andreas A., Kalwa, Hermann, Heinig, Matthias,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 2.69 MB

english, 2013

22

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., He

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2013

23

Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations

Ko, Wen-Ya, Rajan, Prianka, Gomez, Felicia, Scheinfeldt, Laura, An, Ping, Winkler, Cheryl A., Froment, Alain, Nyambo, Thomas B., Omar, Sabah A., Wambebe, Charles, Ranciaro, Alessia, Hirbo, Jibril B.,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 122 KB

english, 2013