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ArticlesPeer ReviewedFull Text
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Author / Creator:Furuta, Yutaka ; Tinker, Rory J. ; Hamid, Rizwan ; Cogan, Joy D. ; Ezell, Kimberly M. ; Oglesbee, Devin ; DeBerardinis, Ralph J. ; Phillips, John A.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.427-11, Article 427
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Author / Creator:Baldridge, Dustin ; Wangler, Michael F. ; Bowman, Angela N. ; Yamamoto, Shinya ; Schedl, Tim ; Pak, Stephen C. ; Postlethwait, John H. ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Bellen, Hugo J. ; Westerfield, Monte
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Author / Creator:Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; Spillmann, Rebecca ; Cope, Heidi ; McConkie-Rosell, Allyn ; Walley, Nicole ; Fernandez, Liliana ; Kohler, Jennefer N. ; Bonner, Devon ; Reuter, Chloe ; Stong, Nicholas ; Mulvihill, John J. ; Novacic, Donna ; Wolfe, Lynne ; Abdelbaki, Ayat ; Toro, Camilo ; Tifft, Cyndi ; Malicdan, May ; Gahl, William ; Liu, Pengfei ; Newman, John ; Goldstein, David B. ; Hom, Jason ; Sampson, Jacinda ; Wheeler, Matthew T. ; Cogan, Joy ; Bernstein, Jonathan A. ; Adams, David R. ; McCray, Alexa T. ; Shashi, Vandana
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Author / Creator:Spillmann, Rebecca C. ; McConkie-Rosell, Allyn ; Pena, Loren ; Jiang, Yong-Hui ; Schoch, Kelly ; Walley, Nicole ; Sanders, Camilla ; Sullivan, Jennifer ; Hooper, Stephen R. ; Shashi, Vandana
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
Author / Creator:Bostwick, Bret L. ; McLean, Scott ; Posey, Jennifer E. ; Streff, Haley E. ; Gripp, Karen W. ; Blesson, Alyssa ; Powell-Hamilton, Nina ; Tusi, Jessica ; Stevenson, David A. ; Farrelly, Ellyn ; Hudgins, Louanne ; Yang, Yaping ; Xia, Fan ; Wang, Xia ; Liu, Pengfei ; Walkiewicz, Magdalena ; McGuire, Marianne ; Grange, Dorothy K. ; Andrews, Marisa V. ; Hummel, Marybeth ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Coban-Akdemir, Zeynep ; Miszalski-Jamka, Karol ; Jefferies, John L. ; Rosenfeld, Jill A. ; Emrick, Lisa ; Nugent, Kimberly M. ; Lupski, James R. ; Belmont, John W. ; Lee, Brendan ; Lalani, Seema R.
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2017-08, Vol.9 (1), p.73-73, Article 73
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Adults with lysosomal storage diseases in the undiagnosed diseases network
Author / Creator:Xiao, Changrui ; Koziura, Mary ; Cope, Heidi ; Spillman, Rebecca ; Tan, Khoon ; Hisama, Fuki M. ; Tifft, Cynthia J. ; Toro, Camilo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2013-n/a
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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Author / Creator:Palmer, Elizabeth Emma ; Cederroth, Helene ; Cederroth, Mikk ; Delgado-Vega, Angelica Maria ; Roberts, Natalie ; Taylan, Fulya ; Nordgren, Ann ; Botto, Lorenzo D.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2024-07, Vol.9 (1), p.37-7, Article 37
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Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
Author / Creator:LeBlanc, Kimberly ; Glanton, Emily ; Nagy, Anna ; Bater, Jorick ; Berro, Tala ; McGuinness, Molly A. ; Studwell, Courtney ; Might, Matthew
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.210-9, Article 210
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
Author / Creator:Cope, Heidi ; Spillmann, Rebecca ; Rosenfeld, Jill A. ; Brokamp, Elly ; Signer, Rebecca ; Schoch, Kelly ; Kelley, Emily G. ; Sullivan, Jennifer A. ; Macnamara, Ellen ; Lincoln, Sharyn ; Golden‐Grant, Katie ; Orengo, James P. ; Clark, Gary ; Burrage, Lindsay C. ; Posey, Jennifer E. ; Punetha, Jaya ; Robertson, Amy ; Cogan, Joy ; Phillips, John A. ; Martinez‐Agosto, Julian ; Shashi, Vandana
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1397-n/a
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Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
Author / Creator:Palmer, Christina G. S. ; McConkie-Rosell, Allyn ; Holm, Ingrid A. ; LeBlanc, Kimberly ; Sinsheimer, Janet S. ; Briere, Lauren C. ; Dorrani, Naghmeh ; Herzog, Matthew R. ; Lincoln, Sharyn ; Schoch, Kelly ; Spillmann, Rebecca C. ; Brokamp, Elly
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2018-10, Vol.27 (5), p.1087-1101
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Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network
Author / Creator:Splinter, Kimberly ; Hull, Sara Chandros ; Holm, Ingrid A. ; McDonough, Tara L. ; Wise, Anastasia L. ; Ramoni, Rachel B.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Clinical and translational science, 2018-01, Vol.11 (1), p.28-31
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Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
Author / Creator:Amiri, Hadi ; Kohane, Isaac S.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2021-02, Vol.4 (2), p.e2036220
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Reports Outline Life Science Study Results from Stanford University (Genetic Counselor Roles In the Undiagnosed Diseases Network Research Study: Clinical Care, Collaboration, and Curation)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2023-04, p.2540
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Identifying digenic disease genes using machine learning in the undiagnosed diseases network
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2020-06, p.2262
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Newsletter articlesFull Text
Federal Grant: Diagnostic Centers of Excellence for the Undiagnosed Diseases Network (U01 Clinical Trial Not Allowed)
Publisher:Washington, D.C: HT Digital Streams Limited
Journal title:US Fed News Service, Including US State News, 2023
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ArticlesFull Text
Studies Conducted at Stanford University on Genetic Counseling and Psychology Recently Reported (Genetic Counselor Roles In the Undiagnosed Diseases Network Research Study: Clinical Care, Collaboratio...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2021-09, p.4716
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Newsletter articlesFull Text
NIH launches Phase II of the Undiagnosed Diseases Network
Author / Creator:Shepard, Bob
Publisher:Carlsbad: Uloop, Inc
Journal title:University Wire, 2018
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ArticlesFull Text
Identifying digenic disease genes using machine learning in the undiagnosed diseases network
Author / Creator:Mukherjee, Souhrid ; Cogan, Joy D ; Newman, John H ; Phillips, John A ; Hamid, Rizwan ; Undiagnosed Diseases Network ; Meiler, Jens ; Capra, John A
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-06
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Researchers from Vanderbilt University Report Details of New Studies and Findings in the Area of Machine Learning (Identifying Digenic Disease Genes Via Machine Learning In the Undiagnosed Diseases Ne...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2021-11, p.4065
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Newsletter articlesFull Text
Researchers at Vanderbilt University Medical Center Target Genetic Diseases and Conditions (Prevalence of Individuals With Multiple Diagnosed Genetic Diseases In the Undiagnosed Diseases Network)
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2024, p.5105
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Showing 1 to 20 of 85 results

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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

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Adults with lysosomal storage diseases in the undiagnosed diseases network

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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

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Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

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Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

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Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network

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Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network

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Reports Outline Life Science Study Results from Stanford University (Genetic Counselor Roles In the Undiagnosed Diseases Network Research Study: Clinical Care, Collaboration, and Curation)

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Identifying digenic disease genes using machine learning in the undiagnosed diseases network

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Federal Grant: Diagnostic Centers of Excellence for the Undiagnosed Diseases Network (U01 Clinical Trial Not Allowed)

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Studies Conducted at Stanford University on Genetic Counseling and Psychology Recently Reported (Genetic Counselor Roles In the Undiagnosed Diseases Network Research Study: Clinical Care, Collaboratio...

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NIH launches Phase II of the Undiagnosed Diseases Network

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Identifying digenic disease genes using machine learning in the undiagnosed diseases network

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Researchers from Vanderbilt University Report Details of New Studies and Findings in the Area of Machine Learning (Identifying Digenic Disease Genes Via Machine Learning In the Undiagnosed Diseases Ne...

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Researchers at Vanderbilt University Medical Center Target Genetic Diseases and Conditions (Prevalence of Individuals With Multiple Diagnosed Genetic Diseases In the Undiagnosed Diseases Network)

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