Results : 201-225/322
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:
Rotthier, Annelies
Auer-Grumbach, Michaela
Janssens, Katrien
Baets, Jonathan
Timmerman, Vincent
Citation: Rotthier, Annelies et al., Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 513-522
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:
Riazuddin, S. Amer
Shahzadi, Amber
Zeitz, Christina
Ahmed, Zubair M.
Hejtmancik, J. Fielding
Citation: Riazuddin, S. Amer et al., A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 523-531
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:
Funari, Vincent A.
Krakow, Deborah
Nevarez, Lisette
Chen, Zugen
Cohn, Daniel H.
Citation: A. Funari, Vincent et al., BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 532-537
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:
Agamy, Orly
Zeev, Bruria Ben
Lev, Dorit
Marcus, Barak
Birk, Ohad S.
Citation: Agamy, Orly et al., Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 538-544
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
Authors:
Jee, Sun Ha
Woong Sull, Jae
Lee, Jong-Eun
Shin, Chol
Beaty, Terri H.
Citation: Jee, Sun Ha et al., Adiponectin Concentrations: A Genome-wide Association Study, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 545-552
Authors:
So, Hon-Cheong
Kwan, Johnny S.H.
Cherny, Stacey S.
Sham, Pak C.
Citation: So, Hon-cheong et al., Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 548-565
Authors:
Talkowski, Michael E.
Mullegama, Sureni V.
Rosenfeld, Jill A.
van Bon, Bregje W.M.
Citation: E. Talkowski, Michael et al., Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 551-563
Authors:
Anastasio, Natascia
Ben-Omran, Tawfeg
Teebi, Ahmad
Ha, Kevin C.H.
Jerome-Majewska,Loydie A.
Citation: Anastasio, Natascia et al., Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 553-559
Authors:
McLaughlin, Heather M.
Sakaguchi, Reiko
Liu, Cuiping
Igarashi, Takao
Antonellis, Anthony
Citation: M. Mclaughlin, Heather et al., Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 560-566
Authors:
Blaydon, Diana C.
Nitoiu, Daniela
Eckl, Katja-Martina
Cabral, Rita M.
Citation: C. Blaydon, Diana et al., Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 564-571
Authors:
Arsov, Todor
Smith, Katherine R.
Damiano, John
Franceschetti, Silvana
Berkovic, Samuel F.
Citation: Arsov, Todor et al., Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 566-573
Authors:
Zangen, David
Kaufman, Yotam
Zeligson, Sharon
Perlberg, Shira
Citation: Zangen, David et al., XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 572-579
Authors:
Southgate, Laura
Machado, Rajiv D.
Snape, Katie M.
Primeau, Martin
Trembath, Richard C
Citation: Southgate, Laura et al., Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 574-585
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(5), 2010, pp. 575-576
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 577-579
Authors:
Keats, Bronya J.B.
Hassold, Terry J.
Citation: Keats, Bronya J.b et J. Hassold, Terry, Recollections from 60 ASHG Meetings, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 580-592