Volume 89; Issue 2

The American Journal of Human Genetics

Volume 89; Issue 2

1

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk, Asli Kavaz, Susan Blanton, Maria Christina Di

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 703 KB

english, 2011

2

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Christa E. Flück, Monika Meyer-Böni, Amit V. Pandey, Petra Kempná, Walter L. Miller, Eugen J. Schoenle, Anna Biason-Lauber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.21 MB

english, 2011

3

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. R

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 742 KB

english, 2011

4

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne-Ma

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 943 KB

english, 2011

5

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S. Krauss

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 989 KB

english, 2011

6

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob, Sian Ellard

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

7

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.52 MB

english, 2011

8

A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia

Janna Nousbeck, Bettina Burger, Dana Fuchs-Telem, Mor Pavlovsky, Shlomit Fenig, Ofer Sarig, Peter Itin, Eli Sprecher

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 786 KB

english, 2011

9

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel, Connie A. Myers, Rob W.J. Collin, Marijke N. Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B. Hoyng, L. Ingeborgh van den Born, Ron Bose, Wei S

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.22 MB

english, 2011

10

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Cathryn J. Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W. Verheijen, Hanka Venselaar, Marie-Claire Y. de Wit, Esther de Graaff, Aida M. Bertoli-Avella, Grazia M.S. Mancini

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.36 MB

english, 2011

11

Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression

Jung-Ying Tzeng, Daowen Zhang, Monnat Pongpanich, Chris Smith, Mark I. McCarthy, Michèle M. Sale, Bradford B. Worrall, Fang-Chi Hsu, Duncan C. Thomas, Patrick F. Sullivan

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 423 KB

english, 2011

12

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey J. Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 29 KB

english, 2011

13

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al-Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

14

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

Leen Abu-Safieh, Emad B. Abboud, Hisham Alkuraya, Hanan Shamseldin, Shamsa Al-Enzi, Lama Al-Abdi, Mais Hashem, Dilek Colak, Abdullah Jarallah, Hala Ahmad, Steve Bobis, Georges Nemer, Fadi Bitar, Fowza

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1003 KB

english, 2011

15

GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development

Mats Larsson, David L. Duffy, Gu Zhu, Jimmy Z. Liu, Stuart Macgregor, Allan F. McRae, Margaret J. Wright, Richard A. Sturm, David A. Mackey, Grant W. Montgomery, Nicholas G. Martin, Sarah E. Medland

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

16

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda, Mitsunori Fukuda, Yoko Fukuda, Hiroshi Morita, Shu-ichi Ikeda, Rumiko Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Haruya Sakai, Satoko Miyat

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 808 KB

english, 2011

17

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen L. Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo A.H. Zeef, Jill Urquhart, Nicoletta Zoppi, Richard Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

18

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 51 KB

english, 2011

19

This month in The Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

20

VPS35 Mutations in Parkinson Disease

Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel, Jennifer M. Kachergus, Sarah J. Lincoln, Alexandra I. Soto-Ortolaza, Stephanie A. Cobb, Greggory J. Wilhoite, Justin A. Bacon,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 29 KB

english, 2011

21

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Muhammad Arshad Rafiq, Andreas W. Kuss, Lucia Puettmann, Abdul Noor, Annapoorani Ramiah, Ghazanfar Ali, Hao Hu, Nadir Ali Kerio, Yong Xiang, Masoud Garshasbi, Muzammil Ahmad Khan, Gisele E. Ishak, Ros

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 25 KB

2011

22

Recent Admixture in an Indian Population of African Ancestry

Ankita Narang, Pankaj Jha, Vimal Rawat, Arijit Mukhopadhyay, Debasis Dash, Analabha Basu, Mitali Mukerji

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 24 KB

2011

23

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Christa E. Flück, Monika Meyer-Böni, Amit V. Pandey, Petra Kempná, Walter L. Miller, Eugen J. Schoenle, Anna Biason-Lauber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 28 KB

english, 2011