Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne-Marie Mes-Masson, Jonathan Baets, Henry Houlden, Bernard Brais, Garth A. Nicholson, Hilde Van Esch, Shahriar Nafissi, Peter De Jonghe, Mary M. Reilly, Vincent Timmerman, Patrick A. Dion, Guy A. Rouleau

Am J Hum Genet. 2011 Aug 12; 89(2): 219–230. doi: 10.1016/j.ajhg.2011.06.013

PMCID:: PMC3155159

Article PubReader PDF–943K Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 231–240. doi: 10.1016/j.ajhg.2011.07.001

PMCID:: PMC3155179

Article PubReader PDF–989K Cite

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 Tyynelä, Christine Van Broeckhoven, Peter C.G. Nijssen, Sara E. Mole, Milan Elleder, Stanislav Kmoch

Am J Hum Genet. 2011 Aug 12; 89(2): 241–252. doi: 10.1016/j.ajhg.2011.07.003

Correction in:: Am J Hum Genet. 2011 Oct 7; 89(4): 589.

PMCID:: PMC3155175

Article PubReader PDF–2.5M Cite

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, The European Retinal Disease Consortium, Ron Bose, Wei Shen, Dror Sharon, Frans P.M. Cremers, B. Jeroen Klevering, Anneke I. den Hollander, Joseph C. Corbo

Am J Hum Genet. 2011 Aug 12; 89(2): 253–264. doi: 10.1016/j.ajhg.2011.07.005

PMCID:: PMC3155188

Article PubReader PDF–1.2M Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 265–276. doi: 10.1016/j.ajhg.2011.07.006

PMCID:: PMC3155199

Article PubReader PDF–1.3M Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 277–288. doi: 10.1016/j.ajhg.2011.07.007

PMCID:: PMC3155192

Article PubReader PDF–423K Cite

Reports

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 Digilio, Bruno Dallapiccola, Juan Young, Stephan Zuchner, Mustafa Tekin

Am J Hum Genet. 2011 Aug 12; 89(2): 289–294. doi: 10.1016/j.ajhg.2011.06.007

PMCID:: PMC3155157

Article PubReader PDF–703K Cite

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. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska-Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina

Am J Hum Genet. 2011 Aug 12; 89(2): 295–301. doi: 10.1016/j.ajhg.2011.06.012

PMCID:: PMC3155189

Article PubReader PDF–742K Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 302–307. doi: 10.1016/j.ajhg.2011.07.004

PMCID:: PMC3155166

Article PubReader PDF–786K Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 308–312. doi: 10.1016/j.ajhg.2011.07.002

PMCID:: PMC3155164

Article PubReader PDF–154K Cite

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, Fowzan S. Alkuraya

Am J Hum Genet. 2011 Aug 12; 89(2): 313–319. doi: 10.1016/j.ajhg.2011.07.010

PMCID:: PMC3155176

Article PubReader PDF–1003K Cite

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 Miyatake, Masaaki Shiina, Nobuyuki Nukina, Shigeru Koyano, Shoji Tsuji, Yoshiyuki Kuroiwa, Naomichi Matsumoto

Am J Hum Genet. 2011 Aug 12; 89(2): 320–327. doi: 10.1016/j.ajhg.2011.07.012

PMCID:: PMC3155161

Article PubReader PDF–808K Cite

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.

Am J Hum Genet. 2011 Aug 12; 89(2): 328–333. doi: 10.1016/j.ajhg.2011.07.009

PMCID:: PMC3155174

Article PubReader PDF–709K Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 334–343. doi: 10.1016/j.ajhg.2011.07.011

PMCID:: PMC3155193

Article PubReader PDF–687K Cite

Correction

Recent Admixture in an Indian Population of African Ancestry

Ankita Narang, Pankaj Jha, Vimal Rawat, Arijit Mukhopadhyay, Debasis Dash, Indian Genome Variation Consortium, Analabha Basu, Mitali Mukerji

Am J Hum Genet. 2011 Aug 12; 89(2): 344. doi: 10.1016/j.ajhg.2011.07.020

Corrects:: Am J Hum Genet. 2011 Jul 15; 89(1): 111–120.

PMCID:: PMC3155173

Correction PubReader PDF–24K Cite

Errata

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, Tao Jiang, Christa Schank, Heidi Deborah Fain, Reid Robison, Brian Dalley, Steven Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hakon Hakonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon

Am J Hum Genet. 2011 Aug 12; 89(2): 345. doi: 10.1016/j.ajhg.2011.07.008

Corrects:: Am J Hum Genet. 2011 Jul 15; 89(1): 28–43.

PMCID:: PMC3155194

Correction PubReader PDF–29K Cite

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 Dodds, Kate E. Chandler, Siddharth Banka, Leon Au, Jill Clayton-Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme C.M. Black

Am J Hum Genet. 2011 Aug 12; 89(2): 346. doi: 10.1016/j.ajhg.2011.07.013

Corrects:: Am J Hum Genet. 2011 Jun 10; 88(6): 767–777.

PMCID:: PMC3155162

Correction PubReader PDF–36K Cite

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

Am J Hum Genet. 2011 Aug 12; 89(2): 347. doi: 10.1016/j.ajhg.2011.07.021

Corrects:: Am J Hum Genet. 2011 Aug 12; 89(2): 201–218.

PMCID:: PMC3155163

Correction PubReader PDF–28K Cite

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, Bahareh Behrouz, Heather L. Melrose, Emna Hentati, Andreas Puschmann, Daniel M. Evans, Elizabeth Conibear, Wyeth W. Wasserman, Jan O. Aasly, Pierre R. Burkhard, Ruth Djaldetti, Joseph Ghika, Faycal Hentati, Anna Krygowska-Wajs, Tim Lynch, Eldad Melamed, Alex Rajput, Ali H. Rajput, Alessandra Solida, Ruey-Meei Wu, Ryan J. Uitti, Zbigniew K. Wszolek, François Vingerhoets, Matthew J. Farrer

Am J Hum Genet. 2011 Aug 12; 89(2): 347. doi: 10.1016/j.ajhg.2011.07.018

Corrects:: Am J Hum Genet. 2011 Jul 15; 89(1): 162–167.

PMCID:: PMC3155177

Correction PubReader PDF–29K Cite

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, Rosanna Weksberg, Reinhard Ullmann, Andreas Tzschach, Kimia Kahrizi, Khalid Mahmood, Farooq Naeem, Muhammad Ayub, Kelley W. Moremen, John B. Vincent, Hans Hilger Ropers, Muhammad Ansar, Hossein Najmabadi

Am J Hum Genet. 2011 Aug 12; 89(2): 348. doi: 10.1016/j.ajhg.2011.07.019

Corrects:: Am J Hum Genet. 2011 Jul 15; 89(1): 176–182.

PMCID:: PMC3155190

Correction PubReader PDF–25K Cite

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics