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1. Full Text Genome sequencing and implications for rare disorders
by Posey, Jennifer E
Orphanet journal of rare diseases, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 153 - 153
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Rare Diseases - genetics | Exome - genetics | Genetic Predisposition to Disease - genetics | Genetic Testing | Genomics | Humans | Rare diseases | Usage | Gene mutations | Genetic aspects | Nucleotide sequencing | Research | DNA sequencing | Index Medicus | Genome sequencing | Undiagnosed diseases | Diagnostic utility | Rare disease | Exome sequencing | Molecular diagnoses
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2. Full Text A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
by Ngo, Kathie J and Rexach, Jessica E and Lee, Hane and Petty, Lauren E and Perlman, Susan and Valera, Juliana M and Deignan, Joshua L and Mao, Yuanming and Aker, Mamdouh and Posey, Jennifer E and Jhangiani, Shalini N and Coban‐Akdemir, Zeynep H and Boerwinkle, Eric and Muzny, Donna and Nelson, Alexandra B and Hassin‐Baer, Sharon and Poke, Gemma and Neas, Katherine and Geschwind, Michael D and Grody, Wayne W and Gibbs, Richard and Geschwind, Daniel H and Lupski, James R and Below, Jennifer E and Nelson, Stanley F and Fogel, Brent L
Human mutation, ISSN 1059-7794, 02/2020, Volume 41, Issue 2, pp. 487 - 501
spastic paraparesis | spastic paraplegia | cerebellar ataxia | exome | genetics | ataxia | diagnostic testing | neurogenetics | gait disorders | genomics | spinocerebellar ataxia | cerebellum | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Development and progression | Nervous system diseases | Cerebellar ataxia | Analysis | Genomics | Cerebellum | Neurological diseases | Phenotypes | Neurodegenerative diseases | Coding | Copy number | Ataxia | Genomes | Index Medicus
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3. Full Text Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
by Posey, Jennifer E and Harel, Tamar and Liu, Pengfei and Rosenfeld, Jill A and James, Regis A and Coban Akdemir, Zeynep H and Walkiewicz, Magdalena and Bi, Weimin and Xiao, Rui and Ding, Yan and Xia, Fan and Beaudet, Arthur L and Muzny, Donna M and Gibbs, Richard A and Boerwinkle, Eric and Eng, Christine M and Sutton, V. Reid and Shaw, Chad A and Plon, Sharon E and Yang, Yaping and Lupski, James R
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes | Index Medicus | Abridged Index Medicus
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4. Full Text Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
by Du, Renqian and Dinckan, Nuriye and Song, Xiaofei and Coban-Akdemir, Zeynep and Jhangiani, Shalini N and Guven, Yeliz and Aktoren, Oya and Kayserili, Hulya and Petty, Lauren E and Muzny, Donna M and Below, Jennifer E and Boerwinkle, Eric and Wu, Nan and Gibbs, Richard A and Posey, Jennifer E and Lupski, James R and Letra, Ariadne and Uyguner, Z Oya
Human genetics, ISSN 0340-6717, 9/2018, Volume 137, Issue 9, pp. 689 - 703
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Adhesion Molecules - genetics | Humans | Child, Preschool | Repressor Proteins - genetics | Male | Proto-Oncogene Proteins - genetics | Genetic Markers | Anodontia - epidemiology | Anodontia - genetics | Proteins - genetics | Phenotype | Wnt Proteins - genetics | Turkey - epidemiology | Pedigree | Female | Anodontia - pathology | Mutation | Child | Medical colleges | Agenesis | Laminin | Population genetics | Deafness | Phenotypes | Epidermolysis bullosa | Gene frequency | Etiology | Teeth | Amelogenesis imperfecta | Microphthalmia | Index Medicus | WNT10A | tooth agenesis | TSPEAR | BCOR | LAMB3 | whole exome sequencing
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5. Full Text NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
by Martin, Paige B and Kigoshi-Tansho, Yu and Sher, Roger B and Ravenscroft, Gianina and Stauffer, Jennifer E and Kumar, Rajesh and Yonashiro, Ryo and Müller, Tina and Griffith, Christopher and Allen, William and Pehlivan, Davut and Haral, Tamar and Zenker, Martin and Howting, Denise and Schanze, Denny and Faqeih, Eissa A and Almontashiri, Naif A. M and Maroofian, Reza and Houlden, Henry and Mazaheri, Neda and Galehdari, Hamid and Douglas, Ganka and Posey, Jennifer E and Ryan, Monique and Lupski, James R and Laing, Nigel G and Joazeiro, Claudio A. P and Cox, Gregory A
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 4625 - 4625
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Yeasts | Neuromuscular diseases | Animal models | Polypeptides | Mental disorders | Homeostasis | Nervous system | Proteins | Neurodegeneration | Proteolysis | Quality control | Degeneration | Mutation | Neuromuscular system | Stalling | Ubiquitin-protein ligase | Index Medicus
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6. Full Text Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
by Allix-Béguec, Caroline and Arandjelovic, Irena and Bi, Lijun and Beckert, Patrick and Bonnet, Maryline and Bradley, Phelim and Cabibbe, Andrea M and Cancino-Muñoz, Irving and Caulfield, Mark J and Chaiprasert, Angkana and Cirillo, Daniela M and Clifton, David A and Comas, Iñaki and Crook, Derrick W and De Filippo, Maria R and de Neeling, Han and Diel, Roland and Drobniewski, Francis A and Faksri, Kiatichai and Farhat, Maha R and Fleming, Joy and Fowler, Philip and Fowler, Tom A and Gao, Qian and Gardy, Jennifer and Gascoyne-Binzi, Deborah and Gibertoni-Cruz, Ana-Luiza and Gil-Brusola, Ana and Golubchik, Tanya and Gonzalo, Ximena and Grandjean, Louis and He, Guangxue and Guthrie, Jennifer L and Hoosdally, Sarah and Hunt, Martin and Iqbal, Zamin and Ismail, Nazir and Johnston, James and Khanzada, Faisal M and Khor, Chiea C and Kohl, Thomas A and Kong, Clare and Lipworth, Sam and Liu, Qingyun and Maphalala, Gugu and Martinez, Elena and Mathys, Vanessa and Merker, Matthias and Miotto, Paolo and Mistry, Nerges and Moore, David A.J and Murray, Megan and Niemann, Stefan and Ong, Rick T.-H and Peto, Tim E.A and Posey, James E and Prammananan, Therdsak and Pym, Alexander and Rodrigues, Camilla and Rodrigues, Mabel and Rodwell, Timothy and Rossolini, Gian M and Padilla, Elisabeth Sánchez and Schito, Marco and Shen, Xin and Shendure, Jay and Sintchenko, Vitali and Sloutsky, Alex and Smith, E. Grace and Snyder, Matthew and Soetaert, Karine and Starks, Angela M and Supply, Philip and Suriyapol, Prapat and Tahseen, Sabira and Tang, Patrick and Teo, Yik-Ying and Thuong, Thuong N.T and Thwaites, Guy and Tortoli, Enrico and Omar, Shaheed V and van Soolingen, Dick and Walker, A. Sarah and Walker, Timothy M and Wilcox, Mark and Wilson, Daniel J and Wyllie, David and Yang, Yang and Zhang, Hongtai and Zhao, Yanlin and Zhu, Baoli and The CRyPTIC Consortium and the 100,000 Genomes Project and CRyPTIC Consortium and 100000 Genomes Project and CRyPTIC Consortium and the 100,000 Genomes Project
The New England journal of medicine, ISSN 0028-4793, 10/2018, Volume 379, Issue 15, pp. 1403 - 1415
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genome, Bacterial | Isoniazid - pharmacology | Ethambutol - pharmacology | Humans | Antitubercular Agents - pharmacology | Genotype | Tuberculosis - microbiology | Mycobacterium tuberculosis - drug effects | Mycobacterium tuberculosis - isolation & purification | Whole Genome Sequencing | Microbial Sensitivity Tests | Pyrazinamide - pharmacology | Phenotype | Tuberculosis - drug therapy | Mutation | Rifampin - pharmacology | Drug Resistance, Bacterial - genetics | Antitubercular Agents - therapeutic use | Mycobacterium tuberculosis - genetics | Usage | Tuberculosis | Antitubercular agents | Dosage and administration | Genetic aspects | Nucleotide sequencing | Drug therapy | Risk factors | DNA sequencing | Phenotypes | Laboratories | Genomics | Genes | Antimicrobial agents | Genomes | Grants | Drug resistance | Pyrazinamide | Disease control | Genotype & phenotype | Ethambutol | Collections | Isoniazid | Rifampin | Public health | Index Medicus | Abridged Index Medicus | Life Sciences | Microbiology and Parasitology | Biochemistry, Molecular Biology
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7. Full Text Molecular diagnostic experience of whole-exome sequencing in adult patients
by Posey, Jennifer E and Rosenfeld, Jill A and James, Regis A and Bainbridge, Matthew and Niu, Zhiyv and Wang, Xia and Dhar, Shweta and Wiszniewski, Wojciech and Akdemir, Zeynep H. C and Gambin, Tomasz and Xia, Fan and Person, Richard E and Walkiewicz, Magdalena and Shaw, Chad A and Sutton, V. Reid and Beaudet, Arthur L and Muzny, Donna and Eng, Christine M and Yang, Yaping and Gibbs, Richard A and Lupski, James R and Boerwinkle, Eric and Plon, Sharon E
Genetics in medicine, ISSN 1098-3600, 07/2016, Volume 18, Issue 7, pp. 678 - 685
whole-exome sequencing | adult patients | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Genetic Predisposition to Disease | Genetic Testing | Humans | Pathology, Molecular - methods | Adult | Female | Male | Genetic Diseases, Inborn - epidemiology | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Genetic Diseases, Inborn - diagnosis | Index Medicus | whole exome sequencing
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8. Full Text Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
by Dharmadhikari, Avinash V and Ghosh, Rajarshi and Yuan, Bo and Liu, Pengfei and Dai, Hongzheng and Al Masri, Sami and Scull, Jennifer and Posey, Jennifer E and Jiang, Allen H and He, Weimin and Vetrini, Francesco and Braxton, Alicia A and Ward, Patricia and Chiang, Theodore and Qu, Chunjing and Gu, Shen and Shaw, Chad A and Smith, Janice L and Lalani, Seema and Stankiewicz, Pawel and Cheung, Sau-Wai and Bacino, Carlos A and Patel, Ankita and Breman, Amy M and Wang, Xia and Meng, Linyan and Xiao, Rui and Xia, Fan and Muzny, Donna and Gibbs, Richard A and Beaudet, Arthur L and Eng, Christine M and Lupski, James R and Yang, Yaping and Bi, Weimin
Genome medicine, ISSN 1756-994X, 05/2019, Volume 11, Issue 1, pp. 30 - 30
Dual molecular diagnoses | Uniparental disomy | Exome sequencing | Structural variation | Exonic CNV in AR disorders | ROH | Microarray | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microarray Analysis - methods | Whole Exome Sequencing - standards | Limit of Detection | Genetic Testing - standards | Humans | Male | Genetic Testing - methods | Whole Exome Sequencing - methods | DNA Copy Number Variations | Homozygote | Chromosome Aberrations | Female | Microarray Analysis - standards | Genomics | Quality control | Pediatrics | Phenotypes | Congenital diseases | Disease | Copy number | Genomes | Single-nucleotide polymorphism | Hereditary diseases | Algorithms | Diagnosis | Chromosomes | Index Medicus
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