Results : 1-25/189
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 1-2
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 1-2
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 3-5
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 3-4
Authors:
Lanktree, Matthew B.
Guo, Yiran
Murtaza, Muhammed
Glessner, Joseph T.
Keating, Brendan J.
Citation: B. Lanktree, Matthew et al., Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 6-18
Authors:
Le Goff, Carine
Mahaut, Clémentine
Wang, Lauren W.
Allali, Slimane
Citation: Le Goff, Carine et al., Mutations in the TGF. Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 7-14
Authors:
Baasanjav, Sevjidmaa
Al-Gazali, Lihadh
Hashiguchi, Taishi
Mizumoto, Shuji
Citation: Baasanjav, Sevjidmaa et al., Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 15-27
Authors:
Ahmed, Zubair M.
Yousaf, Rizwan
Lee, Byung Cheon
Khan, Shaheen N.
Riazuddin, Saima
Citation: M. Ahmed, Zubair et al., Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 19-29
Authors:
Rope, Alan F.
Wang, Kai
Evjenth, Rune
Xing, Jinchuan
Citation: F. Rope, Alan et al., Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 28-43
Authors:
Okada, Ippei
Hamanoue, Haruka
Terada, Koji
Tohma, Takaya
Saitsu, Hirotomo
Citation: Okada, Ippei et al., SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 30-41
Authors:
Tan, Min-Han
Mester, Jessica
Peterson, Charissa
Yang, Yiran
Eng, Charis
Citation: Tan, Min-han et al., A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 42-56
Authors:
Saadi, Irfan
Alkuraya, Fowzan S.
Gisselbrecht, Stephen S.
Goessling, Wolfram
Citation: Saadi, Irfan et al., Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 44-55
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:
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:
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:
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:
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
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:
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:
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:
Narang, Ankita
Jha, Pankaj
Rawat, Vimal
Mukhopadhayay, Arijit
Citation: Narang, Ankita et al., Recent Admixture in an Indian Population of African Ancestry, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 111-120
Authors:
Pippucci, Tommaso
Savoia, Anna
Perrotta, Silverio
Pujol-Moix, Núria
Balduini, Carlo L.
Citation: Pippucci, Tommaso et al., Mutations in the 5. UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 115-120