Results : 101-125/189
Authors:
Mordechai, Shikma
Gradstein, Libe
Pasanen, Annika
Ofir, Rivka
Citation: Mordechai, Shikma et al., High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 438-445
Authors:
González-Pérez, Abel
López-Bigas, Nuria
Citation: González-pérez, Abel et López-bigas, Nuria, Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 440-449
Authors:
Day-Williams, Aaron G.
Southam, Lorraine
Panoutsopoulou, Kalliope
Rayner, Nigel W.
Citation: G. Day-williams, Aaron et al., A Variant in MCF2L Is Associated with Osteoarthritis, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 446-450
Authors:
Breitling, Lutz P.
Yang, Rongxi
Korn, Bernhard
Burwinkel, Barbara
Brenner, Hermann
Citation: P. Breitling, Lutz et al., Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 450-457
Authors:
Parry, David A.
Logan, Clare V.
Hayward, Bruce E.
Citation: A. Parry, David et al., Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 451-458
Authors:
Zhu, Qianqian
Ge, Dongliang
Maia, Jessica M.
Zhu, Mingfu
Goldstein, David B.
Citation: Zhu, Qianqian et al., A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 458-468
Authors:
Lappalainen, Tuuli
Montgomery, Stephen B.
Nica, Alexandra C.
Dermitzakis, Emmanouil T.
Citation: Lappalainen, Tuuli et al., Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 459-463
Authors:
Khan, Kamron
Rudkin, Adam
Parry, David A.
Burdon, Kathryn P.
Citation: Khan, Kamron et al., Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 464-473
Authors:
Talkowski, Michael E.
Ernst, Carl
Heilbut, Adrian
Chiang, Colby
Gusella, James F.
Citation: E. Talkowski, Michael et al., Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 469-481
Authors:
Hor, Hyun
Bartesaghi, Luca
Kutalik, Zoltán
Vicário, José L.
Citation: Hor, Hyun et al., A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 474-479
Authors:
Israeli, Shirli
Khamaysi, Ziyad
Fuchs-Telem, Dana
Nousbeck, Janna
Sprecher, Eli
Citation: Israeli, Shirli et al., A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 482-487
Authors:
Cameron, Jessie M.
Janer, Alexandre
Levandovskiy, Valeriy
MacKay, Nevena
Citation: M. Cameron, Jessie et al., Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 486-495
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Authors:
Huigsloot, Merei
Nijtmans, Leo G.
Szklarczyk, Radek
Baars, Marieke J.H.
Rodenburg, Richard J.T.
Citation: Huigsloot, Merei et al., A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 488-493
Authors:
Gigarel, Nadine
Hesters, Laetitia
Samuels, David C.
Monnot, Sophie
Steffann, Julie
Citation: Gigarel, Nadine et al., Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 494-498
Authors:
Hu, Xinli
Kim, Hyun
Stahl, Eli
Plenge, Robert
Citation: Hu, Xinli et al., Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 496-506
Authors:
Bem, Danai
Yoshimura, Shin-Ichiro
Nunes-Bastos, Ricardo
Bond, Frances F.
Aligianis, Irene A.
Citation: Bem, Danai et al., Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 499-507
Authors:
Bjursell, Magnus K.
Blom, Henk J.
Cayuela, Jordi Asin
Engvall, Martin L.
Citation: K. Bjursell, Magnus et al., Although genome-wide association studies have implicated many individual loci in complex diseases, identifying the exact causal alleles and the cell types within which they act remains greatly challenging. To ultimately understand disease mechanism, researchers must carefully conceive functional studies in relevant pathogenic cell types to demonstrate the cellular impact of disease-associated genetic variants. This challenge is highlighted in autoimmune diseases, such as rheumatoid arthritis, wh, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 507-515
Authors:
Mill, Pleasantine
Lockhart, Paul J.
Fitzpatrick, Elizabeth
Mountford, Hayley S.
Amor, David J.
Citation: Mill, Pleasantine et al., Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 508-515
Authors:
Reich, David
Patterson, Nick
Kircher, Martin
Delfin, Frederick
Citation: Reich, David et al., Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 516-528
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(5), 2011, pp. 519-520
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 521-522
Authors:
Bakircioglu, Mehmet
Carvalho, Ofélia P.
Khurshid, Maryam
Cox, James J.
Woods, C. Geoffrey
Citation: Bakircioglu, Mehmet et al., The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 523-535
Authors:
Denny, Joshua C.
Crawford, Dana C.
Ritchie, Marylyn D.
Bielinski, Suzette J.
Citation: C. Denny, Joshua et al., Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 529-542
Authors:
Alkuraya, Fowzan S.
Cai, Xuyu
Emery, Carina
Mochida, Ganeshwaran H.
Walsh, Christopher A.
Citation: S. Alkuraya, Fowzan et al., Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 536-547
Authors:
Hartig, Monika B.
Iuso, Arcangela
Haack, Tobias
Kmiec, Tomasz
Citation: B. Hartig, Monika et al., Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 543-550