Volume 86; Issue 2

The American Journal of Human Genetics

Volume 86; Issue 2

1

No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

2

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

Dina Ruano, Gonçalo R. Abecasis, Beate Glaser, Esther S. Lips, L. Niels Cornelisse, Arthur P.H. de Jong, David M. Evans, George Davey Smith, Nicolas J. Timpson, August B. Smit, Peter Heutink, Matthijs

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.50 MB

english, 2010

3

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 593 KB

english, 2010

4

Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies

Annie W.C. Kung, Su-Mei Xiao, Stacey Cherny, Gloria H.Y. Li, Yi Gao, Gloria Tso, Kam S. Lau, Keith D.K. Luk, Jian-min Liu, Bin Cui, Min-Jia Zhang, Zhen-lin Zhang, Jin-wei He, Hua Yue, Wia-bo Xia, Lian

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

5

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 326 KB

english, 2010

6

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C. Erik van Nouhuys, F. Nienke Boonstra, Ellen A.W. Blokland, Peer Arts, Nienke Wieskamp, Tim M. Strom, Carmen Ayuso, Mauk A.D. Tilanus

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 768 KB

english, 2010

7

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, Patrick L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W.R.J. Cremers, Henricus P

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 915 KB

english, 2010

8

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Önnerfjord, Björn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl, Dick Heinegård, Anders Aspb

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.43 MB

english, 2010

9

ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure

Timothy Thornton, Mary Sara McPeek

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 244 KB

english, 2010

10

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Emad B. Abboud, Ali A. Al-Rajhi, Molly Bray, Richard Alan Lewis, James R.

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

11

Genetic Dilemmas and the Right to an Open Future

Annelien Bredenoord

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

12

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

13

The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans

Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, Syed Qasim Mehdi, Sylvester L.B. Kajuna, Csaba Barta, Selemani Kungulilo, N.J. Karoma, Ru-Band Lu, Olga V. Zhukova, Jong-Jin Ki

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1017 KB

english, 2010

14

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Petra van der Lelij, Krystyna H. Chrzanowska, Barbara C. Godthelp, Martin A. Rooimans, Anneke B. Oostra, Markus Stumm, Małgorzata Z. Zdzienicka, Hans Joenje, Johan P. de Winter

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 846 KB

english, 2010

15

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz-Lozano, M. Cecilia Scimia, James D. Lindsey, Robert Weinreb, Beate Albrecht, Andre Megarbane, Yasemin Alanay, Ziva Be

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 711 KB

english, 2010

16

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, Ruti Parvari

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 882 KB

english, 2010

17

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, A

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

18

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A. Mackey, Lisa S. Kearns, Jonathan B. Ruddle, Jamie E. Craig, Eric A. Pierce, Louise M. Downey, Moin D.

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 515 KB

english, 2010

19

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

Reinhard Schneppenheim, Michael C. Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vat

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 587 KB

english, 2010

20

Allelic Skewing of DNA Methylation Is Widespread across the Genome

Leonard C. Schalkwyk, Emma L. Meaburn, Rebecca Smith, Emma L. Dempster, Aaron R. Jeffries, Matthew N. Davies, Robert Plomin, Jonathan Mill

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1011 KB

english, 2010

21

Response to Payne

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

22

Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse

Hana Odeh, Kristina L. Hunker, Inna A. Belyantseva, Hela Azaiez, Matthew R. Avenarius, Lili Zheng, Linda M. Peters, Leona H. Gagnon, Nobuko Hagiwara, Michael J. Skynner, Murray H. Brilliant, Nicholas

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.59 MB

english, 2010

23

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti, Irina Elovaara, Tuula Pirttilä, Mauri

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 507 KB

english, 2010

24

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

25

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

26

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 25 KB

english, 2010

27

Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

28

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 27 KB

english, 2010

29

Announcement

Journal:

The American Journal of Human Genetics

Year:

2010

File:

PDF, 21 KB

2010

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