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1. Full Text Uncovering the roles of rare variants in common disease through whole-genome sequencing
by Cirulli, Elizabeth T and Goldstein, David B
Nature reviews. Genetics, ISSN 1471-0056, 06/2010, Volume 11, Issue 6, pp. 415 - 425
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Predisposition to Disease - genetics | Animals | Disease - genetics | Models, Biological | Pedigree | Chromosome Mapping - methods | Humans | Genome-Wide Association Study - methods | Sequence Analysis, DNA - methods | Genetic Variation - physiology | Usage | United States | Genetic aspects | Single nucleotide polymorphisms | Research | Nucleotide sequencing | Risk factors | Diseases | Index Medicus
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2. Full Text Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
by Zhu, Mingfu and Need, Anna C and Han, Yujun and Ge, Dongliang and Maia, Jessica M and Zhu, Qianqian and Heinzen, Erin L and Cirulli, Elizabeth T and Pelak, Kimberly and He, Min and Ruzzo, Elizabeth K and Gumbs, Curtis and Singh, Abanish and Feng, Sheng and Shianna, Kevin V and Goldstein, David B
American journal of human genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 408 - 421
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Algorithms | Validation Studies as Topic | Gene Deletion | Humans | Genome, Human | Genotyping Techniques | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Usage | Nucleotide sequencing | Research | Human genome | Genetic variation | DNA sequencing | Performance evaluation | Genomes | Comparative analysis | Genomics | Index Medicus
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3. Full Text The role of HLA-A33:01 in patients with cholestatic hepatitis attributed to terbinafine
by Fontana, Robert John and Cirulli, Elizabeth Theresa and Gu, Jiezhun and Kleiner, David and Ostrov, David and Phillips, Elizabeth and Schutte, Ryan and Barnhart, Huiman and Chalasani, Naga and Watkins, Paul Brent and Hoofnagle, Jay H
Journal of hepatology, ISSN 0168-8278, 12/2018, Volume 69, Issue 6, pp. 1317 - 1325
Hepatotoxicity | Drug-induced liver injury | Genetic polymorphisms | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Haplotypes | Antifungal Agents - adverse effects | Liver - pathology | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Male | Alanine Transaminase - blood | Antifungal Agents - chemistry | HLA-B14 Antigen - genetics | Adult | Female | Alkaline Phosphatase - blood | Chemical and Drug Induced Liver Injury - etiology | Chemical and Drug Induced Liver Injury - genetics | Cholestasis - chemically induced | HLA-B14 Antigen - chemistry | Terbinafine - administration & dosage | Chemical and Drug Induced Liver Injury - diagnosis | Polymorphism, Genetic | HLA-A Antigens - genetics | Protein Binding | Terbinafine - chemistry | Aged | Molecular Docking Simulation | HLA-A Antigens - chemistry | Antifungal Agents - administration & dosage | Biomarkers - chemistry | Terbinafine - adverse effects | Alkaline phosphatase | Alanine | Liver diseases | Toxicity | Syngeneic grafts | Genes | Liver | Gene polymorphism | Terbinafine | Latency | Hepatitis | Allografts | Genotyping | Hepatology | Alanine transaminase | Histocompatibility antigen HLA | Deoxyribonucleic acid--DNA | DNA sequencing | Liver transplantation | Index Medicus
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4. Full Text Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
by Elizabeth T. Cirulli and Brittany N. Lasseigne and Slavé Petrovski and Peter C. Sapp and Patrick A. Dion and Claire S. Leblond and Julien Couthouis and Yi-Fan Lu and Quanli Wang and Brian J. Krueger and Zhong Ren and Jonathan Keebler and Yujun Han and Shawn E. Levy and Braden E. Boone and Jack R. Wimbish and Lindsay L. Waite and Angela L. Jones and John P. Carulli and Aaron G. Day-Williams and John F. Staropoli and Winnie W. Xin and Alessandra Chesi and Alya R. Raphael and Diane McKenna-Yasek and Janet Cady and J. M. B. Vianney de Jong and Kevin P. Kenna and Bradley N. Smith and Simon Topp and Jack Miller and Athina Gkazi and Ammar Al-Chalabi and Leonard H. van den Berg and Jan Veldink and Vincenzo Silani and Nicola Ticozzi and Christopher E. Shaw and Robert H. Baloh and Stanley Appel and Ericka Simpson and Clotilde Lagier-Tourenne and Stefan M. Pulst and Summer Gibson and John Q. Trojanowski and Lauren Elman and Leo McCluskey and Murray Grossman and Neil A. Shneider and Wendy K. Chung and John M. Ravits and Jonathan D. Glass and Katherine B. Sims and Vivianna M. Van Deerlin and Tom Maniatis and Sebastian D. Hayes and Alban Ordureau and Sharan Swarup and John Landers and Frank Baas and Andrew S. Allen and Richard S. Bedlack and J. Wade Harper and Aaron D. Gitler and Guy A. Rouleau and Robert Brown and Matthew B. Harms and Gregory M. Cooper and Tim Harris and Richard M. Myers and David B. Goldstein and FALS Sequencing Consortium
Science (American Association for the Advancement of Science), ISSN 0036-8075, 3/2015, Volume 347, Issue 6229, pp. 1436 - 1441
RESEARCH ARTICLES | no | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequestosome-1 Protein | Genes | Humans | Middle Aged | Transcription Factor TFIIIA - genetics | Male | Risk | Transcription Factor TFIIIA - metabolism | Young Adult | Aged, 80 and over | Adult | Female | Autophagy - genetics | Protein-Serine-Threonine Kinases - metabolism | Genetic Predisposition to Disease | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Protein-Serine-Threonine Kinases - genetics | Sequence Analysis, DNA | Exome - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Protein Binding | Aged | Adaptor Proteins, Signal Transducing - metabolism | Genetic susceptibility | Exome sequencing | Genetic research | Amyotrophic lateral sclerosis | Genetic aspects | Research | Risk factors | Methods | Gene expression | Neurodegeneration | Genomics | Neurological disorders | Index Medicus | Neurological diseases | Proteins | Pathways | Kinases | Patients | Immunity | Gene sequencing
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5. Full Text Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
by Heinzen, Erin L and Depondt, Chantal and Cavalleri, Gianpiero L and Ruzzo, Elizabeth K and Walley, Nicole M and Need, Anna C and Ge, Dongliang and He, Min and Cirulli, Elizabeth T and Zhao, Qian and Cronin, Kenneth D and Gumbs, Curtis E and Campbell, C. Ryan and Hong, Linda K and Maia, Jessica M and Shianna, Kevin V and McCormack, Mark and Radtke, Rodney A and O'Conner, Gerard D and Mikati, Mohamad A and Gallentine, William B and Husain, Aatif M and Sinha, Saurabh R and Chinthapalli, Krishna and Puranam, Ram S and McNamara, James O and Ottman, Ruth and Sisodiya, Sanjay M and Delanty, Norman and Goldstein, David B
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 293 - 302
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Medical genetics | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Epilepsy, Generalized - genetics | European Continental Ancestry Group - genetics | Exome - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Sequence Alignment | Base Sequence | Humans | Molecular Sequence Data | Genotype | Sequence Analysis, DNA | Europeans | Usage | Generalized epilepsy | Genetic variation | Exome sequencing | Causes of | Genetic aspects | Research | Diseases | Genotype & phenotype | Comparative analysis | Epilepsy | Genomics | Risk factors | Index Medicus
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6. Full Text Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study
by Nicoletti, Paola and Aithal, Guruprasad P and Bjornsson, Einar S and Andrade, Raul J and Sawle, Ashley and Arrese, Marco and Barnhart, Huiman X and Bondon-Guitton, Emmanuelle and Hayashi, Paul H and Bessone, Fernando and Carvajal, Alfonso and Cascorbi, Ingolf and Cirulli, Elizabeth T and Chalasani, Naga and Conforti, Anita and Coulthard, Sally A and Daly, Mark J and Day, Christopher P and Dillon, John F and Fontana, Robert J and Grove, Jane I and Hallberg, Pär and Hernández, Nelia and Ibáñez, Luisa and Kullak-Ublick, Gerd A and Laitinen, Tarja and Larrey, Dominique and Lucena, M. Isabel and Maitland-van der Zee, Anke H and Martin, Jennifer H and Molokhia, Mariam and Pirmohamed, Munir and Powell, Elizabeth E and Qin, Shengying and Serrano, Jose and Stephens, Camilla and Stolz, Andrew and Wadelius, Mia and Watkins, Paul B and Floratos, Aris and Shen, Yufeng and Nelson, Matthew R and Urban, Thomas J and Daly, Ann K and International Drug-Induced Liver Injury Consortium, Drug-Induced Liver Injury Network Investigators, and International Serious Adverse Events Consortium and Int Drug-Induced Liver Injury Cons and Drug-Induced Liver Injury Network and Int Serious Adverse Events Consort
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 2017, Volume 152, Issue 5, pp. 1078 - 1089
Gastroenterology and Hepatology | Side Effect | Medication | Liver Damage | Anti-Fungal Agent | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Antifungal Agents - adverse effects | Naphthalenes - adverse effects | Humans | Middle Aged | Male | Sertraline - adverse effects | Fenofibrate - adverse effects | Chromosomes, Human, Pair 2 - genetics | Ticlopidine - adverse effects | Female | Odds Ratio | Chemical and Drug Induced Liver Injury - etiology | Platelet Aggregation Inhibitors - adverse effects | Hypolipidemic Agents - adverse effects | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Genes, MHC Class I - genetics | Chemical and Drug Induced Liver Injury - genetics | Terbinafine | Phenotype | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Alleles | HLA-A Antigens - genetics | Polymorphism, Single Nucleotide | Antidepressive Agents - adverse effects | Drugs | Medical research | Liver diseases | Liver | Genes | Genomics | Risk factors | Genetic polymorphisms | Analysis | Gastrointestinal diseases | Medicine, Experimental | Genetic research | Trade and professional associations | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Hépatology and Gastroenterology | side effect | medication | anti-fungal agent | liver damage
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7. Full Text Minocycline Hepatotoxicity: Clinical characterization and identification of HLA-B∗ 35:02 as a risk factor
by Urban, Thomas Jacob and Nicoletti, Paola and Chalasani, Naga and Serrano, Jose and Stolz, Andrew and Daly, Ann and Aithal, Guruprasad and Dillon, John and Navarro, Victor and Odin, Joseph and Barnhart, Huiman and Ostrov, David and Long, Nanye and Cirulli, Elizabeth Theresa and Watkins, Paul Brent and Fontana, Robert John and International Serious Adverse Events Consortium (iSAEC) and Drug-Induced Liver Injury Network (DILIN) and Pharmacogenetics of Drug-Induced Liver Injury group (DILIGEN)
Journal of hepatology, ISSN 0168-8278, 2017, Volume 67, Issue 1, pp. 137 - 144
Gastroenterology and Hepatology | Autoimmunity | Drug-induced liver injury | Single nucleotide polymorphism | Genetic association | Human leukocyte antigen | Index Medicus | genetic association | Drug induced liver injury | autoimmunity | single nucleotide polymorphism | human leukocyte antigen
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8. Full Text Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia
by Need, Anna C and McEvoy, Joseph P and Gennarelli, Massimo and Heinzen, Erin L and Ge, Dongliang and Maia, Jessica M and Shianna, Kevin V and He, Min and Cirulli, Elizabeth T and Gumbs, Curtis E and Zhao, Qian and Campbell, C. Ryan and Hong, Linda and Rosenquist, Peter and Putkonen, Anu and Hallikainen, Tero and Repo-Tiihonen, Eila and Tiihonen, Jari and Levy, Deborah L and Meltzer, Herbert Y and Goldstein, David B
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 303 - 312
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Schizophrenia | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | United States | Humans | Risk Factors | Molecular Sequence Data | Genotype | Sequence Analysis, DNA | Exome - genetics | Sequence Alignment | Schizophrenia - genetics | Base Sequence | Finland | Usage | Genetic variation | Exome sequencing | Causes of |