Results : 26-50/322
Authors:
Riley, Lisa G.
Cooper, Sandra
Hickey, Peter
Rudinger-Thirion, Joëlle
Christodoulou, John
Citation: G. Riley, Lisa et al., Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia.MLASA Syndrome, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 52-59
Authors:
Cheng, Jing
Zhu, Yuhua
He, Sudan
Lu, Yanping
Citation: Cheng, Jing et al., Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 56-66
Authors:
Kurreeman, Fina
Liao, Katherine
Chibnik, Lori
Hickey, Brendan
Plenge, Robert M.
Citation: Kurreeman, Fina et al., Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 57-69
Authors:
Emison, Eileen Sproat
Garcia-Barcelo, Merce
Grice, Elizabeth A.
Lantieri, Francesca
Chakravarti, Aravinda
Citation: Emison, Eileen Sproat et al., Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 60-74
Authors:
Huppke, Peter
Brendel, Cornelia
Kalscheuer, Vera
Korenke, Georg Christoph
Citation: Huppke, Peter et al., Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 61-68
Authors:
Nieminen, Pekka
Morgan, Neil V.
Fenwick, Aimée L.
Parmanen, Satu
Citation: Nieminen, Pekka et al., Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 67-81
Authors:
Mitchell, Karen
O'Sullivan, James
Missero, Caterina
Blair, Ed
Citation: Mitchell, Karen et al., Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 69-75
Authors:
Klopocki, Eva
Lohan, Silke
Brancati, Francesco
Koll, Randi
Mundlos, Stefan
Citation: Klopocki, Eva et al., Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 70-75
Authors:
Mitsui, Jun
Takahashi, Yuji
Goto, Jun
Tomiyama, Hiroyuki
Tsuji, Shoji
Citation: Mitsui, Jun et al., Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 75-89
Authors:
Yang, Jian
Lee, S. Hong
Goddard, Michael E.
Visscher, Peter M.
Citation: Yang, Jian et al., GCTA: A Tool for Genome-wide Complex Trait Analysis, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 76-82
Authors:
Kalay, Ersan
Sezgin, Orhan
Chellappa, Vasant
Mutlu, Mehmet
Citation: Kalay, Ersan et al., Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 76-85
Authors:
Wu, Michael C.
Lee, Seunggeun
Cai, Tianxi
Li, Yun
Citation: C. Wu, Michael et al., Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 82-93
Authors:
Lessard, Christopher J.
Adrianto, Indra
Kelly, Jennifer A.
Kaufman, Kenneth M.
Moser, Kathy L.
Citation: J. Lessard, Christopher et al., Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 83-91
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly
Authors:
Yoneda, Yuriko
Haginoya, Kazuhiro
Arai, Hiroshi
Yamaoka, Shigeo
Citation: Yoneda, Yuriko et al., De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 86-90
Authors:
Walsh, Tom
Shahin, Hashem
Elkan-Miller, Tal
Lee, Ming K.
Kanaan, Moien
Citation: Walsh, Tom et al., Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 90-94
Authors:
Jeanne, Marion
Labelle-Dumais, Cassandre
Jorgensen, Jeff
Kauffman, W. Berkeley
Citation: Jeanne, Marion et al., COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 91-101
Authors:
Abouzeid, Hana
Boisset, Gaëlle
Favez, Tatiana
Youssef, Mohamed
Schorderet, Daniel F.
Citation: Abouzeid, Hana et al., Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 92-98
Authors:
Dowdle, William E.
Robinson, Jon F.
Kneist, Andreas
Sirerol-Piquer, M. Salomé
Citation: E. Dowdle, William et al., Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 94-110
Authors:
Isidor, Bertrand
Pichon, Olivier
Redon, Richard
Day-Salvatore, Debra
Le Caignec, Cédric
Citation: Isidor, Bertrand et al., Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 95-100
Authors:
Guelly, Christian
Zhu, Peng-Peng
Leonardis, Lea
Papi., Lea
Auer-Grumbach, Michaela
Citation: Guelly, Christian et al., Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 99-105
Authors:
Walsh, Tom
Pierce, Sarah B.
Lenz, Danielle R.
Brownstein, Zippora
Avraham, Karen B.
Citation: Walsh, Tom et al., Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 101-109
Authors:
Estrada-Cuzcano, Alejandro
Neveling, Kornelia
Kohl, Susanne
Banin, Eyal
Citation: Estrada-cuzcano, Alejandro et al., Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 102-109
Authors:
Thiel, Christian
Kessler, Kristin
Giessl, Andreas
Dimmler, Arno
Rauch, Anita
Citation: Thiel, Christian et al., NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 106-114
Authors:
Lapunzina, Pablo
Aglan, Mona
Temtamy, Samia
Caparrós-Martín, José A.
Ruiz-Perez, Victor L.
Citation: Lapunzina, Pablo et al., Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 110-114
Authors:
Gibson, William T.
Hood, Rebecca L.
Zhan, Shing Hei
Bulman, Dennis E.
Citation: T. Gibson, William et al., Mutations in EZH2 Cause Weaver Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 110-118