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1. Full Text Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
by Meng, Linyan and Pammi, Mohan and Saronwala, Anirudh and Magoulas, Pilar and Ghazi, Andrew Ray and Vetrini, Francesco and Zhang, Jing and He, Weimin and Dharmadhikari, Avinash V and Qu, Chunjing and Ward, Patricia and Braxton, Alicia and Narayanan, Swetha and Ge, Xiaoyan and Tokita, Mari J and Santiago-Sim, Teresa and Dai, Hongzheng and Chiang, Theodore and Smith, Hadley and Azamian, Mahshid S and Robak, Laurie and Bostwick, Bret L and Schaaf, Christian P and Potocki, Lorraine and Scaglia, Fernando and Bacino, Carlos A and Hanchard, Neil A and Wangler, Michael F and Scott, Daryl and Brown, Chester and Hu, Jianhong and Belmont, John W and Burrage, Lindsay C and Graham, Brett H and Sutton, Vernon Reid and Craigen, William J and Plon, Sharon E and Lupski, James R and Beaudet, Arthur L and Gibbs, Richard A and Muzny, Donna M and Miller, Marcus J and Wang, Xia and Leduc, Magalie S and Xiao, Rui and Liu, Pengfei and Shaw, Chad and Walkiewicz, Magdalena and Bi, Weimin and Xia, Fan and Lee, Brendan and Eng, Christine M and Yang, Yaping and Lalani, Seema R
JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - e173438
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data | Index Medicus | Abridged Index Medicus
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2. Full Text Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
by Lord, Jenny and McMullan, Dominic J and Eberhardt, Ruth Y and Rinck, Gabriele and Hamilton, Susan J and Quinlan-Jones, Elizabeth and Prigmore, Elena and Keelagher, Rebecca and Best, Sunayna K and Carey, Georgina K and Mellis, Rhiannon and Robart, Sarah and Berry, Ian R and Chandler, Kate E and Cilliers, Deirdre and Cresswell, Lara and Edwards, Sandra L and Gardiner, Carol and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Lester, Tracy and Lewis, Rebecca A and Newbury-Ecob, Ruth and Prescott, Katrina and Quarrell, Oliver W and Ramsden, Simon C and Roberts, Eileen and Tapon, Dagmar and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Parker, Michael and Williams, Denise and Jenkins, Lucy and Scott, Richard H and Kilby, Mark D and Chitty, Lyn S and Hurles, Matthew E and Maher, Eamonn R and Bateman, Mark and Berry, Ian R and Best, Sunayna K and Campbell, Carolyn and Campbell, Jenni and Carey, Georgina and Chandler, Kate E and Chitty, Lyn S and Cilliers, Deirdre and Cohen, Kelly and Collingwood, Emma and Constantinou, Panayiotis and Cresswell, Lara and Delmege, Catherine and Eberhardt, Ruth Y and Edwards, Sandra L and Ellis, Richard and Evans, Jerry and Everett, Thomas and Pinto, Clare F and Forrester, Natalie and Fowler, Emma and Gardiner, Carol and Hamilton, Susan and Healey, Karen and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Hudson, Rebecca and Hurles, Matthew E and Jenkins, Lucy and Keelagher, Rebecca and Kilby, Mark D and Lester, Tracey and Lewis, Rebecca and Lord, Jenny and Maher, Eamonn R and Marton, Tamas and McMullan, Dominic J and Mehta, Sarju and Mellis, Rhiannon and Newbury-Ecob, Ruth and Park, Soo-Mi and Parker, Michael and Prescott, Katrina and Prigmore, Elena and Quarrell, Oliver W and Quinlan-Jones, Elizabeth and Ramsden, Simon C and Rinck, Gabriele and Robart, Sarah and Roberts, Eileen and Rowland, Jayne and Scott, Richard H and Steer, James and Tapon, Dagmar and Taylor, Emma J and ... and Prenatal Assessment of Genomes and Exomes Consortium and Prenatal Assessment Genomes Exomes
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
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3. Full Text Whole-exome sequencing links caspase recruitment domain 11 ( CARD11 ) inactivation to severe combined immunodeficiency
by Greil, Johann, MD and Rausch, Tobias, PhD and Giese, Thomas, MD and Bandapalli, Obul R., PhD and Daniel, Volker, MD and Bekeredjian-Ding, Isabelle, MD and Stütz, Adrian M., PhD and Drees, Christoph, MD and Roth, Susanne, MD and Ruland, Jürgen, MD and Korbel, Jan O., PhD and Kulozik, Andreas E., MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Allergy and Immunology | caspase recruitment domain 11 (CARD11) | B cell | infection | nuclear factor κB | Whole-exome sequencing | systematic variant categorization | T cell | severe combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Amino Acid Sequence | Cell Line | Jurkat Cells | Humans | CARD Signaling Adaptor Proteins - deficiency | Molecular Sequence Data | Infant | Guanylate Cyclase - antagonists & inhibitors | Severe Combined Immunodeficiency - immunology | Codon, Nonsense | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - antagonists & inhibitors | Homozygote | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Guanylate Cyclase - deficiency | Pedigree | Female | Guanylate Cyclase - genetics | Severe combined immunodeficiency | Analysis | Genomics | Flow cytometry | Laboratories | Colleges & universities | T cell receptors | Genomes | Kinases | Gene expression | Patients | Proteins | Ethics | Signal transduction | Lymphocytes | Mutation | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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4. Full Text Reanalysis of Clinical Exome Sequencing Data
by Scaglia, Fernando and Vetrini, Francesco and Streff, Haley and Escobar, Luis and Liu, Pengfei and Wu, Nan and Uhles, Crescenda L and Bernstein, Jonathan A and Koenig, Mary K and Eble, Tanya and Erwin, Deanna and Sutton, V. Reid and Vernon, Hilary and Gibson, James B and Gripp, Karen and Eroglu, Yasemen and Kleppe, Soledad and Natowicz, Marvin and Mancias, Pedro and Zackai, Elaine H and Schaaf, Christian P and Lewis, Andrea M and Benke, Paul J and He, Weimin and Beaudet, Arthur L and Meng, Linyan and Minor, LaKeesha and Normand, Elizabeth A and Muzny, Donna and Cheng, Hanyin and Xia, Fan and Gibbs, Richard A and Dong, Jie and Song, Xiaofei and Posey, Jennifer E and Gijavanekar, Charul and Lalani, Seema and Ghazi, Andrew and Rosenfeld, Jill and Shaw, Chad and Eng, Christine M and Magoulas, Pilar L and Lupski, James R and Braxton, Alicia and Ward, Patricia and Yang, Yaping and Dai, Hongzheng and Yuan, Bo and Bi, Weimin and Xiao, Rui and Wang, Xia and Chiang, Theodore
The New England journal of medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics | Index Medicus | Abridged Index Medicus
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5. Full Text Exome and genome sequencing for inborn errors of immunity
by Meyts, Isabelle, MD, PhD and Bosch, Barbara, MD and Bolze, Alexandre, PhD and Boisson, Bertrand, PhD and Itan, Yuval, PhD and Belkadi, Aziz, PhD and Pedergnana, Vincent, PhD and Moens, Leen, PhD and Picard, Capucine, MD, PhD and Cobat, Aurélie, MD, PhD and Bossuyt, Xavier, MD, PhD and Abel, Laurent, MD, PhD and Casanova, Jean-Laurent, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
Allergy and Immunology | targeted sequencing | primary immunodeficiency | Next-generation sequencing | whole-exome sequencing | whole-genome sequencing | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Exome - genetics | Humans | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, Inborn | High-Throughput Nucleotide Sequencing | Genome, Human - genetics | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Genetic polymorphisms | Studies | Hypotheses | Parents & parenting | Disease | Genes | Quality | Editing | Fibroblasts | Mutation | Index Medicus | Abridged Index Medicus | Targeted sequencing | Whole exome sequencing | Whole genome sequencing | Next generation sequencing | Primary immunodeficiency
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6. Full Text Exome and genome sequencing of nasopharynx cancer identifies NF-kappa B pathway activating mutations
by Li, Yvonne Y and Chung, Grace T. Y and Lui, Vivian W. Y and To, Ka-Fai and Ma, Brigette B. Y and Chow, Chit and Woo, John K. S and Yip, Kevin Y and Seo, Jeongsun and Hui, Edwin P and Mak, Michael K. F and Rusan, Maria and Chau, Nicole G and Or, Yvonne Y. Y and Law, Marcus H. N and Law, Peggy P. Y and Liu, Zoey W. Y and Ngan, Hoi-Lam and Hau, Pok-Man and Verhoeft, Krista R and Poon, Peony H. Y and Yoo, Seong-Keun and Shin, Jong-Yeon and Lee, Sau-Dan and Lun, Samantha W. M and Jia, Lin and Chan, Anthony W. H and Chan, Jason Y. K and Lai, Paul B. S and Fung, Choi-Yi and Hung, Suet-Ting and Wang, Lin and Chang, Ann Margaret V and Chiosea, Simion I and Hedberg, Matthew L and Tsao, Sai-Wah and van Hasselt, Andrew C and Chan, Anthony T. C and Grandis, Jennifer R and Hammerman, Peter S and Lo, Kwok-Wai
Nature communications, ISSN 2041-1723, 01/2017, Volume 8, Issue 1, pp. 14121 - 14121
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Nasopharyngeal Neoplasms - genetics | Nasopharyngeal Neoplasms - metabolism | Viral Matrix Proteins - genetics | Cell Proliferation | Herpesvirus 4, Human - genetics | Humans | NF-KappaB Inhibitor alpha - genetics | NF-kappa B - metabolism | Exome | Nasopharyngeal Neoplasms - physiopathology | Deubiquitinating Enzyme CYLD - metabolism | TNF Receptor-Associated Factor 3 - genetics | Epstein-Barr Virus Infections - genetics | Viral Matrix Proteins - metabolism | Epstein-Barr Virus Infections - physiopathology | Nasopharyngeal Carcinoma | Epstein-Barr Virus Infections - virology | Signal Transduction | Deubiquitinating Enzyme CYLD - genetics | TNF Receptor-Associated Factor 3 - metabolism | Carcinoma - physiopathology | Whole Genome Sequencing | NF-kappa B - genetics | NF-KappaB Inhibitor alpha - metabolism | Carcinoma - genetics | Carcinoma - metabolism | Mutation | Genome, Human | Herpesvirus 4, Human - metabolism | Epstein-Barr Virus Infections - metabolism | Index Medicus
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7. Full Text Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
by Flannick, Jason and Mercader, Josep M and Fuchsberger, Christian and Udler, Miriam S and Mahajan, Anubha and Wessel, Jennifer and Teslovich, Tanya M and Caulkins, Lizz and Koesterer, Ryan and Barajas-Olmos, Francisco and Blackwell, Thomas W and Boerwinkle, Eric and Brody, Jennifer A and Centeno-Cruz, Federico and Chen, Ling and Chen, Siying and Contreras-Cubas, Cecilia and Córdova, Emilio and Correa, Adolfo and Cortes, Maria and DeFronzo, Ralph A and Dolan, Lawrence and Drews, Kimberly L and Elliott, Amanda and Floyd, James S and Gabriel, Stacey and Garay-Sevilla, Maria Eugenia and García-Ortiz, Humberto and Gross, Myron and Han, Sohee and Heard-Costa, Nancy L and Jackson, Anne U and Jørgensen, Marit E and Kang, Hyun Min and Kelsey, Megan and Kim, Bong-Jo and Koistinen, Heikki A and Kuusisto, Johanna and Leader, Joseph B and Linneberg, Allan and Liu, Ching-Ti and Liu, Jianjun and Lyssenko, Valeriya and Manning, Alisa K and Marcketta, Anthony and Malacara-Hernandez, Juan Manuel and Martínez-Hernández, Angélica and Matsuo, Karen and Mayer-Davis, Elizabeth and Mendoza-Caamal, Elvia and Mohlke, Karen L and Morrison, Alanna C and Ndungu, Anne and Ng, Maggie C. Y and O’Dushlaine, Colm and Payne, Anthony J and Pihoker, Catherine and Post, Wendy S and Preuss, Michael and Psaty, Bruce M and Vasan, Ramachandran S and Rayner, N. William and Reiner, Alexander P and Revilla-Monsalve, Cristina and Robertson, Neil R and Santoro, Nicola and Schurmann, Claudia and So, Wing Yee and Soberón, Xavier and Stringham, Heather M and Strom, Tim M and Tam, Claudia H. T and Thameem, Farook and Tomlinson, Brian and Torres, Jason M and Tracy, Russell P and van Dam, Rob M and Vujkovic, Marijana and Wang, Shuai and Welch, Ryan P and Witte, Daniel R and Wong, Tien-Yin and Atzmon, Gil and Barzilai, Nir and Blangero, John and Bonnycastle, Lori L and Bowden, Donald W and Chambers, John C and Chan, Edmund and Cheng, Ching-Yu and Cho, Yoon Shin and Collins, Francis S and de Vries, Paul S and Duggirala, Ravindranath and Glaser, Benjamin and Gonzalez, Clicerio and Gonzalez, Ma Elena and Groop, Leif and Kooner, Jaspal Singh and Kwak, Soo Heon and ... and DiscovEHR Collaboration and ESP and GoT2D and SIGMA-T2D and Broad Genomics Platform and AMP-T2D-GENES and LuCamp and T2D-GENES and CHARGE and ProDiGY
Nature (London), ISSN 0028-0836, 06/2019, Volume 570, Issue 7759, pp. 71 - 76
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genome-Wide Association Study | Diabetes Mellitus, Type 2 - genetics | Gene Frequency | Humans | Decision Support Techniques | Male | Case-Control Studies | Mice, Knockout | Whole Exome Sequencing | Exome - genetics | Animals | Female | Mice | Type 2 diabetes | Genetic research | Genetic aspects | Research | Exome sequencing | Sequences | Disease | Pathogenesis | Genes | Diabetes mellitus | Hispanic Americans | Health risks | Genomes | Epidemiology | Disease control | Studies | Proteins | Genetic variance | Gene frequency | Alleles | Heritability | Gene loci | Diabetes | Diabetes mellitus (non-insulin dependent) | Power | Index Medicus | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Endokrinologi och diabetes | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Mus | Klinisk medicin | Endocrinology and Diabetes
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