Results : 176-200/322
Authors:
Au, Audrey C.
Hernandez, Paolo A
Lieber,Ernest
Nadroo, Ali M.
Diaz, George A.
Citation: C. Au, Audrey et al., Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 436-444
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:
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 , 87(4), 2010, pp. 447-448
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 449-450
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:
Wagner, Jennifer K
Citation: K. Wagner, Jennifer, Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 451-456
Authors:
Pemberton, Trevor J.
Wang, Chaolong
Li, Jun Z.
Rosenberg, Noah A.
Citation: J. Pemberton, Trevor et al., Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 457-464
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:
Kim, Hyung-Goo
Ahn, Jang-Won
Kurth, Ingo
Ullmann, Reinhard
Layman, Lawrence C.
Citation: Kim, Hyung-goo et al., WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 465-479
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:
Hartmann, Linda
Neveling, Kornelia
Borkens, Stephanie
Schneider, Hildegard
Schaal, Heiner
Citation: Hartmann, Linda et al., Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 480-493
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:
Fu, Wenqing
Zhang, Feng
Wang, Yi
Gu, Xun
Jin, Lil
Citation: Fu, Wenqing et al., Identification of Copy Number Variation Hotspots in Human Populations, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 494-504
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:
Bashamboo, Anu
Ferraz-de-Souza, Bruno
Lourenço, Diana
Lin, Lin
McElreavey, Ken
Citation: Bashamboo, Anu et al., Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 505-512