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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 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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4. Full Text Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios
by Zhu, Xiaolin and Petrovski, Slavé and Xie, Pingxing and Ruzzo, Elizabeth K and Lu, Yi-Fan and McSweeney, K. Melodi and Ben-Zeev, Bruria and Nissenkorn, Andreea and Anikster, Yair and Oz-Levi, Danit and Dhindsa, Ryan S and Hitomi, Yuki and Schoch, Kelly and Spillmann, Rebecca C and Heimer, Gali and Marek-Yagel, Dina and Tzadok, Michal and Han, Yujun and Worley, Gordon and Goldstein, Jennifer and Jiang, Yong-Hui and Lancet, Doron and Pras, Elon and Shashi, Vandana and Mchale, Duncan and Need, Anna C and Goldstein, David B
Genetics in medicine, ISSN 1098-3600, 10/2015, Volume 17, Issue 10, pp. 774 - 781
genic intolerance | diagnosis | HNRNPU | rare disease | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Genotype | Male | Exome | Phenotype | Female | High-Throughput Nucleotide Sequencing | Mutation | Genomics - methods | Genetic Diseases, Inborn - diagnosis | Index Medicus | Original
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5. Full Text Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
by Satterstrom, F. Kyle and Kosmicki, Jack A and Wang, Jiebiao and Breen, Michael S and De Rubeis, Silvia and An, Joon-Yong and Peng, Minshi and Collins, Ryan and Grove, Jakob and Klei, Lambertus and Stevens, Christine and Reichert, Jennifer and Mulhern, Maureen S and Artomov, Mykyta and Gerges, Sherif and Sheppard, Brooke and Xu, Xinyi and Bhaduri, Aparna and Norman, Utku and Brand, Harrison and Schwartz, Grace and Nguyen, Rachel and Guerrero, Elizabeth E and Dias, Caroline and Aleksic, Branko and Anney, Richard and Barbosa, Mafalda and Bishop, Somer and Brusco, Alfredo and Bybjerg-Grauholm, Jonas and Carracedo, Angel and Chan, Marcus C.Y and Chiocchetti, Andreas G and Chung, Brian H.Y and Coon, Hilary and Cuccaro, Michael L and Curró, Aurora and Dalla Bernardina, Bernardo and Doan, Ryan and Domenici, Enrico and Dong, Shan and Fallerini, Chiara and Fernández-Prieto, Montserrat and Ferrero, Giovanni Battista and Freitag, Christine M and Fromer, Menachem and Gargus, J. Jay and Geschwind, Daniel and Giorgio, Elisa and González-Peñas, Javier and Guter, Stephen and Halpern, Danielle and Hansen-Kiss, Emily and He, Xin and Herman, Gail E and Hertz-Picciotto, Irva and Hougaard, David M and Hultman, Christina M and Ionita-Laza, Iuliana and Jacob, Suma and Jamison, Jesslyn and Jugessur, Astanand and Kaartinen, Miia and Knudsen, Gun Peggy and Kolevzon, Alexander and Kushima, Itaru and Lee, So Lun and Lehtimäki, Terho and Lim, Elaine T and Lintas, Carla and Lipkin, W. Ian and Lopergolo, Diego and Lopes, Fátima and Ludena, Yunin and Maciel, Patricia and Magnus, Per and Mahjani, Behrang and Maltman, Nell and Manoach, Dara S and Meiri, Gal and Menashe, Idan and Miller, Judith and Minshew, Nancy and Montenegro, Eduarda M.S and Moreira, Danielle and Morrow, Eric M and Mors, Ole and Mortensen, Preben Bo and Mosconi, Matthew and Muglia, Pierandrea and Neale, Benjamin M and Nordentoft, Merete and Ozaki, Norio and Palotie, Aarno and Parellada, Mara and Passos-Bueno, Maria Rita and Pericak-Vance, Margaret and Persico, Antonio M and Pessah, Isaac and Puura, Kaija and ... and Autism Sequencing Consortium and iPSYCH-Broad Consortium
Cell (Cambridge), ISSN 0092-8674, 02/2020, Volume 180, Issue 3, pp. 568 - 584.e23
exome sequencing | genetics | neurodevelopment | cytoskeleton | liability | excitatory-inhibitory balance | excitatory neurons | cell type | autism spectrum disorder | inhibitory neurons | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Autistic Disorder - genetics | Genetic Predisposition to Disease | Gene Frequency | Humans | Male | Mutation, Missense | Whole Exome Sequencing - methods | Case-Control Studies | Neurobiology - methods | Exome | Cell Lineage | Phenotype | Gene Expression Regulation, Developmental | Single-Cell Analysis - methods | Sex Factors | Cerebral Cortex - growth & development | Female | Neurons - metabolism | Cohort Studies | Index Medicus
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6. Full Text The promise of whole-exome sequencing in medical genetics
by Rabbani, Bahareh and Tekin, Mustafa and Mahdieh, Nejat
Journal of human genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 5 - 15
medical genomics | common disease | Mendelian disorder | whole-exome sequencing | Cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Genetics, Medical - methods | Humans | Genetics, Medical - trends | High-Throughput Nucleotide Sequencing | Genetic Testing - trends | Research | Genomics - methods | Genetic Testing - methods | Genomics - trends | Index Medicus
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7. Full Text An Evaluation of Copy Number Variation Detection Tools from Whole‐Exome Sequencing Data
by Tan, Renjie and Wang, Yadong and Kleinstein, Sarah E and Liu, Yongzhuang and Zhu, Xiaolin and Guo, Hongzhe and Jiang, Qinghua and Allen, Andrew S and Zhu, Mingfu
Human mutation, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 899 - 907
evaluation studies | whole‐genome sequencing | copy number variation | whole‐exome sequencing | Copy number variation | Evaluation studies | Whole-genome sequencing | Whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Computational Biology - methods | Datasets as Topic | Humans | DNA Copy Number Variations | Exome | Algorithms | Sensitivity and Specificity | Heterozygote | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Software | Genomics - methods | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Mutation | Index Medicus
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