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1. Full Text Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
by Yu, Timothy W and Chahrour, Maria H and Coulter, Michael E and Jiralerspong, Sarn and Okamura-Ikeda, Kazuko and Ataman, Bulent and Schmitz-Abe, Klaus and Harmin, David A and Adli, Mazhar and Malik, Athar N and D’Gama, Alissa M and Lim, Elaine T and Sanders, Stephan J and Mochida, Ganesh H and Partlow, Jennifer N and Sunu, Christine M and Felie, Jillian M and Rodriguez, Jacqueline and Nasir, Ramzi H and Ware, Janice and Joseph, Robert M and Hill, R. Sean and Kwan, Benjamin Y and Al-Saffar, Muna and Mukaddes, Nahit M and Hashmi, Asif and Balkhy, Soher and Gascon, Generoso G and Hisama, Fuki M and LeClair, Elaine and Poduri, Annapurna and Oner, Ozgur and Al-Saad, Samira and Al-Awadi, Sadika A and Bastaki, Laila and Ben-Omran, Tawfeg and Teebi, Ahmad S and Al-Gazali, Lihadh and Eapen, Valsamma and Stevens, Christine R and Rappaport, Leonard and Gabriel, Stacey B and Markianos, Kyriacos and State, Matthew W and Greenberg, Michael E and Taniguchi, Hisaaki and Braverman, Nancy E and Morrow, Eric M and Walsh, Christopher A
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of... 
NONKETOTIC HYPERGLYCINEMIA | COHEN-SYNDROME | DE-NOVO MUTATIONS | PTS2 RECEPTOR | GLYCINE CLEAVAGE SYSTEM | CRYSTAL-STRUCTURE | SPECTRUM DISORDERS | CLINICAL VARIABILITY | NEUROSCIENCES | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA | COPY-NUMBER VARIATION | Autistic Disorder - genetics | Humans | Cells, Cultured | Child, Preschool | Rats | Male | Young Adult | Exome - genetics | Animals | Pedigree | Adolescent | Female | Autistic Disorder - diagnosis | Genome-Wide Association Study - methods | Child | Sequence Analysis, DNA - methods | Cohort Studies | Navy-yards and naval stations | Enzymes | Medical colleges | Neurosciences | Genetic disorders | Orphans | Neurons | Genes | Diseases | Autism | Armed Forces | Gene mutations | Genetics | Genetic aspects | Children | Studies | Design | Parents & parenting | Families & family life | Genomes | Mutation | Behavior | Experiments
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2. Full Text Identification of common genetic risk variants for autism spectrum disorder
by Grove, Jakob and Ripke, Stephan and Als, Thomas D and Mattheisen, Manuel and Walters, Raymond K and Won, Hyejung and Pallesen, Jonatan and Agerbo, Esben and Andreassen, Ole A and Anney, Richard and Awashti, Swapnil and Belliveau, Rich and Bettella, Francesco and Buxbaum, Joseph D and Bybjerg-Grauholm, Jonas and Bækvad-Hansen, Marie and Cerrato, Felecia and Chambert, Kimberly and Christensen, Jane H and Churchhouse, Claire and Dellenvall, Karin and Demontis, Ditte and De Rubeis, Silvia and Devlin, Bernie and Djurovic, Srdjan and Dumont, Ashley L and Goldstein, Jacqueline I and Hansen, Christine S and Hauberg, Mads Engel and Hollegaard, Mads V and Hope, Sigrun and Howrigan, Daniel P and Huang, Hailiang and Hultman, Christina M and Klei, Lambertus and Maller, Julian and Martin, Joanna and Martin, Alicia R and Moran, Jennifer L and Nyegaard, Mette and Nærland, Terje and Palmer, Duncan S and Palotie, Aarno and Pedersen, Carsten Bøcker and Pedersen, Marianne Giørtz and dPoterba, Timothy and Poulsen, Jesper Buchhave and Pourcain, Beate St and Qvist, Per and Rehnström, Karola and Reichenberg, Abraham and Reichert, Jennifer and Robinson, Elise B and Roeder, Kathryn and Roussos, Panos and Saemundsen, Evald and Sandin, Sven and Satterstrom, F. Kyle and Davey Smith, George and Stefansson, Hreinn and Steinberg, Stacy and Stevens, Christine R and Sullivan, Patrick F and Turley, Patrick and Walters, G. Bragi and Xu, Xinyi and Wray, Naomi R and Trzaskowski, Maciej and Byrne, Enda M and Abdellaoui, Abdel and Adams, Mark J and Air, Tracy M and Andlauer, Till F. M and Bacanu, Silviu-Alin and Beekman, Aartjan T. F and Bigdeli, Tim B and Binder, Elisabeth B and Blackwood, Douglas H. R and Bryois, Julien and Buttenschøn, Henriette N and Cai, Na and Castelao, Enrique and Clarke, Toni-Kim and Coleman, Jonathan R. I and Colodro-Conde, Lucía and Couvy-Duchesne, Baptiste and Craddock, Nick and Crawford, Gregory E and Davies, Gail and Deary, Ian J and Degenhardt, Franziska and Derks, Eske M and Direk, Nese and Dolan, Conor V and Dunn, Erin C and Eley, Thalia C and Escott-Price, Valentina and Kiadeh, Farnush Farhadi Hassan and Finucane, Hilary K and Forstner, Andreas J and ... and Psychiat Genomics Consortium and BUPGEN and 23andMe Res Team and Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium and 23andMe Research Team and Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
Nature Genetics, ISSN 1061-4036, 2019, Volume 51, Issue 3, pp. 431 - 431
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common... 
DE-NOVO | METAANALYSIS | NEURITE OUTGROWTH | GENETICS & HEREDITY | CELL-SURFACE | LOCI | LD SCORE REGRESSION | SIMONS SIMPLEX COLLECTION | SYNAPTIC PLASTICITY | HERITABILITY | GENOME-WIDE ASSOCIATION | Care and treatment | Genetic aspects | Research | Genetic variation | Risk factors | Pervasive developmental disorders | Phenotypes | Mental disorders | Genomics | Schizophrenia | Principal components analysis | Genomes | Mental depression | Loci | Meta-analysis | Studies | Consortia | Genetic variance | Autism | Heterogeneity | Biological effects | Quality control | Population | Mutation | Children | Polygenic inheritance
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3. Full Text Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
by Chahrour, Maria H and Yu, Timothy W and Lim, Elaine T and Ataman, Bulent and Coulter, Michael E and Hill, R. Sean and Stevens, Christine R and Schubert, Christian R and Greenberg, Michael E and Gabriel, Stacey B and Walsh, Christopher A and ARRA Autism Sequencing and ARRA Autism Sequencing Collaboration
PLoS Genetics, ISSN 1553-7390, 04/2012, Volume 8, Issue 4, pp. 236 - 244
Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes.... 
GENETICS | GENETICS & HEREDITY | DISORDERS | LOCI | CONSANGUINITY | MUTATIONS | LINKAGE | ASSOCIATION | EXPRESSION | REVEALS | FAMILY | Autistic Disorder - genetics | Oncogene Proteins - genetics | Humans | Exons - genetics | Genotype | Genes, Recessive | Homozygote | Adaptor Proteins, Signal Transducing - genetics | Clathrin Heavy Chains - genetics | Neurons - physiology | Transcription, Genetic | High-Throughput Nucleotide Sequencing | Neurons - metabolism | Mutation | Genome, Human | Ubiquitin-Protein Ligases - genetics | Kruppel-Like Transcription Factors - genetics | Autism | Neurons | Genomics | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Homozygosity | Health aspects | DNA sequencing | Genetics | Genes
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4. Full Text Defining the role of the MHC in autoimmunity: A review and pooled analysis
by Fernando, Michelle M. A and Stevens, Christine R and Walsh, Emily C and De Jager, Philip L and Goyette, Philippe and Plenge, Robert M and Vyse, Timothy J and Rioux, John D
PLoS Genetics, ISSN 1553-7390, 2008, Volume 4, Issue 4, pp. e1000024 - e1000024
The major histocompatibility complex ( MHC) is one of the most extensively studied regions in the human genome because of the association of variants at this... 
SYSTEMIC-LUPUS-ERYTHEMATOSUS | INFLAMMATORY-BOWEL-DISEASE | TYPE-1 DIABETES SUSCEPTIBILITY | LEUKOCYTE ANTIGEN COMPLEX | GENETICS & HEREDITY | RHEUMATOID-ARTHRITIS RA | NECROSIS-FACTOR-ALPHA | MAJOR HISTOCOMPATIBILITY COMPLEX | GENOME-WIDE SEARCH | CLASS-II ALLELES | SINGLE-NUCLEOTIDE POLYMORPHISMS | Haplotypes | Crohn Disease - genetics | Genetic Predisposition to Disease | Major Histocompatibility Complex | Humans | Colitis, Ulcerative - genetics | Autoimmunity - genetics | Diabetes Mellitus, Type 1 - genetics | Multiple Sclerosis - genetics | Colitis, Ulcerative - immunology | Crohn Disease - immunology | Linkage Disequilibrium | Arthritis, Rheumatoid - genetics | Lupus Erythematosus, Systemic - genetics | Alleles | Lupus Erythematosus, Systemic - immunology | Multiple Sclerosis - immunology | Diabetes Mellitus, Type 1 - immunology | Arthritis, Rheumatoid - immunology | Lupus | Studies | Medical research | Autoimmune diseases | Immune system
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5. Full Text Genome-wide association identifies multiple ulcerative colitis susceptibility loci
by McGovern, Dermot P. B and Gardet, Agnès and Törkvist, Leif and Goyette, Philippe and Essers, Jonah and Taylor, Kent D and Neale, Benjamin M and Ong, Rick T. H and Lagacé, Caroline and Li, Chun and Green, Todd and Stevens, Christine R and Beauchamp, Claudine and Fleshner, Phillip R and Carlson, Marie and D'Amato, Mauro and Halfvarson, Jonas and Hibberd, Martin L and Lördal, Mikael and Padyukov, Leonid and Aniulli, Angelo and Colombo, Elisabetta and Latiano, Anna and Palmieri, Orazio and Bernard, Edmond-Jean and Deslanes, Colette and Hommes, Daan W and de Jong, Dirk J and Stokkers, Pieter C and Weersma, Rinse K and Sharma, Yashoda and Silverberg, Mark S and Cho, Judy H and Wu, Jing and Roeder, Kathryn and Brant, Steven R and Schumm, L. Phillip and Duerr, Richard H and Dubinsky, Marla C and Glazer, Nicole L and Haritunians, Talin and Ippoliti, Andy and Melmed, Gil Y and Siscovick, David S and Vasiliauskas, Eric A and Targan, Stephan R and Annese, Vito and Wijmenga, Cisca and Pettersson, Sven and Rotter, Jerome I and Xavier, Ramnik J and Daly, Mark J and Rioux, John D and Seielstad, Mark and NIDDK IBD Genetics Consortium and The NIDDK IBD Genetics Consortium and Hälsoakademin and Örebro universitet
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 4, pp. 332 - 337
Ulcerative colitis is a chronic, relapsing inflammatory condition of the gastrointestinal tract with a complex genetic and environmental etiology. In an effort... 
POPULATION | IMMUNITY | CONTRIBUTE | INFLAMMATORY-BOWEL-DISEASE | RETICULUM STRESS-RESPONSE | CROHNS-DISEASE | GENETICS & HEREDITY | RISK | GENETIC-VARIANTS | Genetic Predisposition to Disease | Genome-Wide Association Study | Meta-Analysis as Topic | Receptors, IgG - genetics | Membrane Proteins - genetics | Humans | Colitis, Ulcerative - genetics | Polymorphism, Single Nucleotide | Quantitative trait loci | Development and progression | Disease susceptibility | Genetic aspects | Research | Identification and classification | Ulcerative colitis | Inflammatory bowel disease | Studies | Gene loci | Thermal cycling | Meta-analysis | Medicine | Medicin | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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6. Full Text Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
by Manzini, M. Chiara and Tambunan, Dimira E and Hill, R. Sean and Yu, Tim W and Maynard, Thomas M and Heinzen, Erin L and Shianna, Kevin V and Stevens, Christine R and Partlow, Jennifer N and Barry, Brenda J and Rodriguez, Jacqueline and Gupta, Vandana A and Al-Qudah, Abdel-Karim and Eyaid, Wafaa M and Friedman, Jan M and Salih, Mustafa A and Clark, Robin and Moroni, Isabella and Mora, Marina and Beggs, Alan H and Gabriel, Stacey B and Walsh, Christopher A
The American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 541 - 547
Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully penetrant... 
FKRP | DEFECTIVE GLYCOSYLATION | VARIANTS | O-MANNOSYLATION | DISEASE | GENES | GENETICS & HEREDITY | CONGENITAL MUSCULAR-DYSTROPHIES | MODEL | DYSTROGLYCAN | Exome | Walker-Warburg Syndrome - genetics | Glycosyltransferases - genetics | Mutation | Humans | Usage | Gene mutations | Encephalopathy | Analysis | Exome sequencing | Glycosyltransferases | Causes of | Genetic aspects | Glycosylation | Research | Health aspects | Report
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7. Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
by M Chiara Manzini and Dimira E Tambunan and R Sean Hill and Tim W Yu and Thomas M Maynard and Erin L Heinzen and Kevin V Shianna and Christine R Stevens and Jennifer N Partlow and Brenda J Barry and Jacqueline Rodriguez and Vandana A Gupta and Abdel-Karim Al-Qudah and Wafaa M Eyaid and Jan M Friedman and Mustafa A Salih and Robin Clark and Isabella Moroni and Marina Mora and Alan H Beggs and Stacey B Gabriel and Christopher A Walsh
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 541
  Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully... 
Proteins | Genetic disorders | Zebrafish | Genomes | Gene loci | Mutation
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8. Full Text Identification of two independent risk factors for lupus within the MHC in United Kingdom families
by Fernando, Michelle M. A and Stevens, Christine R and Sabeti, Pardis C and Walsh, Emily C and McWhinnie, Alasdair J. M and Shah, Anila and Green, Todd and Rioux, John D and Vyse, Timothy J
PLoS Genetics, ISSN 1553-7390, 2007, Volume 3, Issue 11, pp. 2109 - 2121
The association of the major histocompatibility complex (MHC) with SLE is well established yet the causal variants arising from this region remain to be... 
RHEUMATOID-ARTHRITIS | HUMAN GENOME | HAPLOTYPE MAP | GENE MAP | GENETICS & HEREDITY | GRAVES-DISEASE | NECROSIS-FACTOR-ALPHA | SLE SUSCEPTIBILITY | MAJOR HISTOCOMPATIBILITY COMPLEX | CLASS-II | DISEASE SUSCEPTIBILITY | Haplotypes | United States | Humans | Male | Case-Control Studies | HLA-DR Antigens - genetics | Female | African Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Major Histocompatibility Complex - genetics | Lupus Erythematosus, Systemic - epidemiology | Gene Frequency | Linkage Disequilibrium - genetics | Genetic Markers | Regression Analysis | Phenotype | Pedigree | HLA-DRB1 Chains | Lupus Erythematosus, Systemic - genetics | Alleles | Polymorphism, Single Nucleotide - genetics | Family | Histocompatibility Antigens Class II - genetics | United Kingdom - epidemiology | Cohort Studies | Genetics and Genomics | Homo (Human) | Rheumatology | Lupus | Medical research | Genetics | Autoimmune diseases | Immune system
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