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Unsupervised extraction of phenotypes from cancer clinical notes for association studies

arXiv 2019年

作者： Stark, Stefan G. Hyland, Stephanie L. Pradier, Melanie F. Lehmann, Kjong-Van Wicki, Andreas Perez-Cruz, Fernando Vogt, Julia E. Rätsch, Gunnar Computational Biology Program Memorial Sloan Kettering Cancer Center New York United States Tri-Institutional Ph.D. Program in Computational Biology and Medicine Weill Cornell Medicine New York United States Department of Computer Science ETH Zürich Zürich Switzerland Medical Informatics Group University Hospital Zürich Zürich Switzerland Swiss Institute for Bioinformatics Zurich Switzerland Department of Biology ETH Zürich Zürich Switzerland Department of Signal Processing and Information Theory University Carlos III in Madrid Leganés Spain School of Engineering and Applied Sciences Harvard University CambridgeMA United States Department of Biomedicine University of Basel Basel Switzerland Tumorzentrum University Hospital Basel Basel Switzerland Swiss Data Science Center ETH Zürich and EPFL Lausanne Switzerland Department of Mathematics and Computer Science University of Basel Basel Switzerland

The recent adoption of Electronic Health Records (EHRs) by healthcare providers has introduced an important source of data that provides detailed and highly specific insights into patient phenotypes over large cohorts... 详细信息

The recent adoption of Electronic Health Records (EHRs) by healthcare providers has introduced an important source of data that provides detailed and highly specific insights into patient phenotypes over large cohorts. These datasets, in combination with machine learning and statistical approaches, generate new opportunities for research and clinical care. However, many methods require the patient representations to be in structured formats, while the information in the EHR is often locked in unstructured text designed for human readability. In this work, we develop the methodology to automatically extract clinical features from clinical narratives from large EHR corpora without the need for prior knowledge. We consider medical terms and sentences appearing in clinical narratives as atomic information units. We propose an efficient clustering strategy suitable for the analysis of large text corpora and utilize the clusters to represent information about the patient compactly. Additionally, we define the sentences on ontologic and natural language vocabularies to automatically detect pertinent combinations of concepts present in the corpus, even when an ontology is not available. To demonstrate the utility of our approach, we perform an association study of clinical features with somatic mutation profiles from 4,007 cancer patients and their tumors. We apply the proposed algorithm to a dataset consisting of .65 thousand documents with a total of .3.2 million sentences. After correcting for cancer type and other confounding factors, we identify a total of 340 significant statistical associations between the presence of somatic mutations and clinical features. We annotated these associations according to their novelty and we report several known associations. We also propose 37 plausible, testable hypothesis for associations where the underlying biological mechanism does not appear to be known. These results illustrate that the automated discovery of clinical features

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Corrigendum to "Identification of Differential Tumor Subtypes of T1 Bladder Cancer" [Eur. Urol. 78 (2020) 533-537]

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European urology 2022年第2期81卷 e53页

作者： A Gordon Robertson Clarice S Groeneveld Brian Jordan Xiaoqi Lin Kimberly A McLaughlin Arighno Das Leigh Ann Fall Damiano Fantini Timothy J Taxter Lauren S Mogil Sia Viborg Lindskrog Lars Dyrskjøt David J McConkey Robert S Svatek Aurélien de Reyniès Mauro A A Castro Joshua J Meeks Dxige Research Inc. Courtenay BC Canada. Cartes d'Identité des Tumeurs Program Ligue Nationale Contre le Cancer Paris France Oncologie Moleculaire Institut Curie Equipe Labellisée Ligue Contre le Cancer Paris France. Department of Urology University of Washington Seattle WA USA. Department of Pathology Northwestern University Feinberg School of Medicine Chicago IL USA. Departments of Urology Biochemistry and Molecular Genetics Feinberg School of Medicine Northwestern University Chicago IL USA. Tempus Labs Inc. Chicago IL USA. Center for Translational Data Science University of Chicago Chicago IL USA. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark. Johns Hopkins Greenberg Bladder Cancer Institute Brady Urological Institute Johns Hopkins University Baltimore MD USA. Experimental Developmental Therapeutics Program UT Health MD Anderson San Antonio TX USA Department of Urology UT Health San Antonio San Antonio TX USA. Cartes d'Identité des Tumeurs Program Ligue Nationale Contre le Cancer Paris France. Bioinformatics and Systems Biology Laboratory Federal University of Paraná Curitiba Brazil. Departments of Urology Biochemistry and Molecular Genetics Feinberg School of Medicine Northwestern University Chicago IL USA Jesse Brown VA Medical Center Chicago IL USA. Electronic address: joshua.meeks@northwestern.edu.

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Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)

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NATURE 2021年第7846期590卷 E56-E56页

作者： Minikel, Eric Vallabh Karczewski, Konrad J. Martin, Hilary C. Cummings, Beryl B. Whiffin, Nicola Rhodes, Daniel Alfoldi, Jessica Trembath, Richard C. van Heel, David A. Daly, Mark J. Schreiber, Stuart L. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Chemical Biology and Therapeutics Science Program Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Henry and Allison McCance Center for Brain Health Massachusetts General Hospital Boston MA USA Department of Neurology Massachusetts General Hospital Boston MA USA Prion Alliance Cambridge MA USA National Heart and Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney Australia Centre for Population Genomics Murdoch Children’s Research Institute Melbourne Australia Divi

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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

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NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

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Nature genetics 2023年第4期55卷 730页

作者： Ditte Demontis G Bragi Walters Georgios Athanasiadis Raymond Walters Karen Therrien Trine Tollerup Nielsen Leila Farajzadeh Georgios Voloudakis Jaroslav Bendl Biau Zeng Wen Zhang Jakob Grove Thomas D Als Jinjie Duan F Kyle Satterstrom Jonas Bybjerg-Grauholm Marie Bækved-Hansen Olafur O Gudmundsson Sigurdur H Magnusson Gisli Baldursson Katrin Davidsdottir Gyda S Haraldsdottir Esben Agerbo Gabriel E Hoffman Søren Dalsgaard Jonna Martin Marta Ribasés Dorret I Boomsma Maria Soler Artigas Nina Roth Mota Daniel Howrigan Sarah E Medland Tetyana Zayats Veera M Rajagopal Merete Nordentoft Ole Mors David M Hougaard Preben Bo Mortensen Mark J Daly Stephen V Faraone Hreinn Stefansson Panos Roussos Barbara Franke Thomas Werge Benjamin M Neale Kari Stefansson Anders D Børglum Department of Biomedicine - Human Genetics Aarhus University Aarhus Denmark. ditte@biomed.au.dk. The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark. ditte@biomed.au.dk. Center for Genomics and Personalized Medicine Aarhus Denmark. ditte@biomed.au.dk. deCODE Genetics/Amgen Reykjavik Iceland. Faculty of Medicine University of Iceland Reykjavik Iceland. The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark. Mental Health Centre Sct. Hans Capital Region of Denmark Institute of Biological Psychiatry Copenhagen University Hospital Copenhagen Denmark. Department of Evolutionary Biology Ecology and Environmental Sciences University of Barcelona Barcelona Spain. Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA. Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA. Center for Disease Neurogenomics Icahn School of Medicine at Mount Sinai New York NY USA. Icahn Institute for Data Science and Genomic Technology Icahn School of Medicine at Mount Sinai New York NY USA. Friedman Brain Institute Icahn School of Medicine at Mount Sinai New York NY USA. Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA. Department of Genetics and Genomic Science Icahn School of Medicine at Mount Sinai New York NY USA. Nash Family Department of Neuroscience Icahn School of Medicine at Mount Sinai New York NY USA. Department of Biomedicine - Human Genetics Aarhus University Aarhus Denmark. Center for Genomics and Personalized Medicine Aarhus Denmark. Bioinformatics Research Centre Aarhus University Aarhus Denmark. Center for Neonatal Screening Department for Congenital Disorders Statens Serum Institut Copenhagen Denmark. Department of Child and Adolescent Psychiatry National University Hospital Reykjavik Iceland. The Centre for Child Developme

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Publisher Correction: A plasma protein-based risk score to predict hip fractures

Nature aging

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Nature aging 2024年第10期4卷 1508页

作者： Thomas R Austin Maria Nethander Howard A Fink Anna E Törnqvist Diana I Jalal Petra Buzkova Joshua I Barzilay Laura Carbone Maiken E Gabrielsen Louise Grahnemo Tianyuan Lu Kristian Hveem Christian Jonasson Jorge R Kizer Arnulf Langhammer Kenneth J Mukamal Robert E Gerszten Bruce M Psaty John A Robbins Yan V Sun Anne Heidi Skogholt John A Kanis Helena Johansson Bjørn Olav Åsvold Rodrigo J Valderrabano Jie Zheng J Brent Richards Eivind Coward Claes Ohlsson Cardiovascular Health Research Unit University of Washington Seattle WA US. Department of Internal Medicine and Clinical Nutrition Institute of Medicine Sahlgrenska Osteoporosis Centre Centre for Bone and Arthritis Research at the Sahlgrenska Academy University of Gothenburg Gothenburg Sweden. Bioinformatics and Data Center Sahlgrenska Academy University of Gothenburg Gothenburg Sweden. Geriatric Research Education and Clinical Center VA Health Care System Minneapolis MN US. Department of Medicine University of Minnesota Minneapolis MN US. Division of Nephrology Department of Internal Medicine Carver College of Medicine Iowa City IA US. Iowa City VA Medical Center Iowa City IA US. Department of Biostatistics University of Washington Seattle WA US. Division of Endocrinology Kaiser Permanente of Georgia Atlanta GA US. Charlie Norwood VAMC Augusta GA US. Division of Rheumatology Department of Medicine Medical College of Georgia Augusta University Augusta GA US. HUNT Center for Molecular and Clinical Epidemiology Department of Public Health and Nursing Norwegian University of Science and Technology Trondheim Norway. Lady Davis Institute for Medical Research Jewish General Hospital Montreal Quebec Canada. Quantitative Life Sciences Program McGill University Montreal Quebec Canada. 5 Prime Sciences Inc Montreal Quebec Canada. HUNT Research Centre NTNU Levanger Norway. Levanger Hospital Nord-Trøndelag Hospital Trust Levanger Norway. Cardiology Section San Francisco VA Health Care System San Francisco CA US. Department of Medicine Epidemiology and Biostatistics University of California San Francisco San Francisco CA US. Department of Medicine Beth Israel Deaconess Medical Center Brookline MA US. Departments of Medicine Epidemiology and Health Systems and Population Health University of Washington Seattle WA US. Department of Medicine University of California Davis CA US. Department of Epidemiology Rollins School of Public Health

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TRANSCRIPTIONAL AND GENOMIC INTRA-TUMOR HETEROGENEITY DRIVES SUBCLONE SPECIFIC DRUG RESPONSES IN DIFFUSE LARGE B CELL LYMPHOMA

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Hematological Oncology 2019年第S2期37卷

作者： T. Roider F. Frauhammer J. Seufert M. Bordas M. Stolarczyk S. Rabe J. Malm P. Bruch M. Hundemer K. Rippe B. Goeppert M. Seiffert B. Brors G. Mechtersheimer C. Müller-Tidow S. Fröhling M. Schlesner W. Huber S. Anders S. Dietrich Department of Medicine V Hematology Oncology and Rheumatology University of Heidelberg Heidelberg Germany Centre for Molecular Biology University of Heidelberg Heidelberg Germany Bioinformatics and Omics Data Analytics German Cancer Research Center (DKFZ) Heidelberg Germany Department of Molecular Genetics German Cancer Research Center (DKFZ) Heidelberg Germany Division of Chromatin Networks German Cancer Research Center (DKFZ) and Bioquant Heidelberg Germany Institute of Pathology University of Heidelberg Heidelberg Germany Translational Oncology National Center for Tumor Diseases (NCT) Heidelberg Germany Genome Biology European Molecular Biology Laboratory (EMBL) Heidelberg Germany

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Africa-specific human genetic variation near CHD1L associates with HIV-1 load (vol 620, pg 1025, 2023)

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NATURE 2023年第7979期621卷 E42-E42页

作者： McLaren, Paul J. Porreca, Immacolata Iaconis, Gennaro Mok, Hoi Ping Mukhopadhyay, Subhankar Karakoc, Emre Cristinelli, Sara Pomilla, Cristina Bartha, Istvan Thorball, Christian W. Tough, Riley H. Angelino, Paolo Kiar, Cher S. Carstensen, Tommy Fatumo, Segun Porter, Tarryn Jarvis, Isobel Skarnes, William C. Bassett, Andrew DeGorter, Marianne K. Moorthy, Mohana Prasad Sathya Tuff, Jeffrey F. Kim, Eun-Young Walter, Miriam Simons, Lacy M. Bashirova, Arman Buchbinder, Susan Carrington, Mary Cossarizza, Andrea De Luca, Andrea Goedert, James J. Goldstein, David B. Haas, David W. Herbeck, Joshua T. Johnson, Eric O. Kaleebu, Pontiano Kilembe, William Kirk, Gregory D. Kootstra, Neeltje A. Kral, Alex H. Lambotte, Olivier Luo, Ma Mallal, Simon Martinez-Picado, Javier Meyer, Laurence Miro, Jose M. Moodley, Pravi Motala, Ayesha A. Mullins, James I. Nam, Kireem Obel, Niels Pirie, Fraser Plummer, Francis A. Poli, Guido Price, Matthew A. Rauch, Andri Theodorou, Ioannis Trkola, Alexandra Walker, Bruce D. Winkler, Cheryl A. Zagury, Jean-Francois Montgomery, Stephen B. Ciuffi, Angela Hultquist, Judd F. Wolinsky, Steven M. Dougan, Gordon Lever, Andrew M. L. Gurdasani, Deepti Groom, Harriet Sandhu, Manjinder S. Fellay, Jacques Sexually Transmitted and Blood-Borne Infections Division at JC Wilt Infectious Diseases Research Centre National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Department of Medical Microbiology and Infectious Diseases University of Manitoba Winnipeg Manitoba Canada Vaccine and Therapeutics Laboratory Medical and Scientific Affairs National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Wellcome Trust Sanger Institute Hinxton UK Department of Medicine University of Cambridge Cambridge UK Department of Medicine National University of Singapore Singapore Singapore Peter Gorer Department of Immunobiology School of Immunology and Microbial Sciences King’s College London London UK Institute of Microbiology Lausanne University Hospital and University of Lausanne Lausanne Switzerland Global Health Institute School of Life Sciences École Polytechnique Fédérale de Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Precision Medicine Unit Biomedical Data Science Center Lausanne University Hospital (CHUV) and University of Lausanne Lausanne Switzerland The African Computational Genomics (TACG) Research Group MRC/UVRI and LSHTM Uganda Research Unit Entebbe Uganda Department of Non-Communicable Disease Epidemiology Faculty of Epidemiology and Population Health London School of Hygiene and Tropical Medicine London UK The Jackson Laboratory for Genomic Medicine Farmington CT USA Department of Pathology Stanford University School of Medicine Stanford CA USA Department of Genetics Stanford University School of Medicine Stanford CA USA Division of Infectious Diseases Feinberg School of Medicine Northwestern University Chicago IL USA Basic Science Program Frederick National Laboratory for Cancer Research National Cancer Institute Frederick MD USA Laboratory of Integrative Cancer Immunology Center for Cancer Research National Cancer Institute Bethesda

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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Genetics in medicine : official journal of the American College of Medical Genetics 2021年第12期23卷 2467页

作者： Sacha Ferdinandusse Kirsty McWalter Heleen Te Brinke Lodewijk IJlst Petra M Mooijer Jos P N Ruiter Alida E M van Lint Mia Pras-Raves Eric Wever Francisca Millan Maria J Guillen Sacoto Amber Begtrup Mark Tarnopolsky Lauren Brady Roger L Ladda Susan L Sell Catherine B Nowak Jessica Douglas Cuixia Tian Elizabeth Ulm Seth Perlman Arlene V Drack Karen Chong Nicole Martin Jennifer Brault Elly Brokamp Camilo Toro William A Gahl Ellen F Macnamara Lynne Wolfe Quinten Waisfisz Petra J G Zwijnenburg Alban Ziegler Magalie Barth Rosemarie Smith Sara Ellingwood Deborah Gaebler-Spira Somayeh Bakhtiari Michael C Kruer Antoine H C van Kampen Ronald J A Wanders Hans R Waterham David Cassiman Frédéric M Vaz Laboratory Genetic Metabolic Diseases Amsterdam UMC University of Amsterdam Department of Clinical Chemistry Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands. s.ferdinandusse@amsterdamumc.nl. GeneDx Gaithersburg MD USA. Laboratory Genetic Metabolic Diseases Amsterdam UMC University of Amsterdam Department of Clinical Chemistry Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands. Core Facility Metabolomics Amsterdam UMC Amsterdam The Netherlands. Bioinformatics Laboratory Department of Epidemiology and Data Science Amsterdam Public Health Research Institute Amsterdam UMC University of Amsterdam Amsterdam The Netherlands. Department of Pediatrics McMaster University Children's Hospital Hamilton ON Canada. Department of Pediatrics Penn State Children's Hospital Hershey PA USA. The Feingold Center for Children Division of Genetics and Genomics Boston Children's Hospital Boston MA USA. Division of Neurology Cincinnati Children's Hospital Medical Center Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA. Department of Neurology University of Iowa Hospitals and Clinics Iowa City IA USA. Department of Ophthalmology and Visual Sciences University of Iowa Iowa City IA USA. Mount Sinai Hospital Department of Obstetrics and Gynecology Prenatal Diagnosis and Medical Genetics Program Toronto ON Canada. Vanderbilt University Medical Center Department of Pediatrics Nashville TN USA. NIH Undiagnosed Diseases Program Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA. Department of Clinical Genetics Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands. Genetic department University Hospital Angers Angers France. Division of Genetics Department of Pediatrics Maine Medical Center Portland ME USA. Feinberg Northwest

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