DavidRMurdockMDFACMG

PubMed

• Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.
  Hadley Stevens Smith, Clarissa E Sanchez, Ronald Maag, Alexandria Buentello, David R Murdock, Ginger A Metcalf, Trevor D Hadley, Daniel L Riconda, Eric Boerwinkle, Xan...> ;Circulation. Genomic and Precision Medicine. 2022 Dec 1
• 3 citations
  Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
  Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Kor...> ;Human Mutation. 2022 Dec 1
• 2 citations
  Harmonizing variant classification for return of results in the All of Us Research Program.
  Steven M Harrison, Christina A Austin-Tse, Serra Kim, Matthew Lebo, Annette Leon, David Murdock, Aparna Radhakrishnan, Brian H Shirts, Marcie Steeves, Eric Venner, Ric...> ;Human Mutation. 2022 Aug 1
• 2 citations
  A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
  David R Murdock, Jill A Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick, Sarah Nicholas, Richard A Lewis, , Carlos A Bacino, Daryl A Scott, Brendan Lee, Vernon R...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 2 citations
  PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of...
  Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Richard A Lewis, Yuezhen Lin, Marcela F Astudillo, Jill A Rosenfeld, Alyssa A Tr...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 37 citations
  Best practices for the interpretation and reporting of clinical whole genome sequencing.
  Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Ted Young, Sarah Barnett, John W Belmont, Nicole Boc...> ;NPJ Genomic Medicine. 2022 Apr 8
• 8 citations
  A dominant negative variant ofdisrupts maturation of surfactant protein B and surfactant protein C.
  Huiyan Huang, Jiehong Pan, David R Spielberg, Neil A Hanchard, Daryl A Scott, Lindsay C Burrage, Hongzheng Dai, David Murdock, Jill A Rosenfeld, Ariz Mohammad, Tao Hua...> ;Proceedings of the National Academy of Sciences of the United States of America. 2022 Feb 8
• 6 citations
  What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
  David R Murdock, Jill A Rosenfeld, Brendan Lee> ;Annual Review of Medicine. 2022 Jan 27
• 5 citations
  AHDC1 missense mutations in Xia-Gibbs syndrome
  Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura A Cross, Emilia K. Bijlsma, Cla...> ;HGG Advances. 2021 Oct 14
• 17 citations
  COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
  Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shi...> ;American Journal of Human Genetics. 2021 Sep 2
• 5 citations
  Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
  Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, Michael M. Khayat, Shalini N. Jhangiani, Qingchang Meng, Ahmad K. Refaey, Donna M. Muzny, Richard A. Gibbs, David R...> ;Pediatric Diabetes. 2021 Aug 19
• 11 citations
  Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
  David R. Murdock, Eric Venner, Donna M. Muzny, Ginger A. Metcalf, Mullai Murugan, Trevor D. Hadley, Varuna Chander, Paul S. de Vries, Xiaoming Jia, Aliza Hussain, Ali ...> ;Genetics in Medicine. 2021 Aug 6
• 2 citations
  Neptune: an environment for the delivery of genomic medicine.
  Venner Eric, Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Xia Tian, Mullai Murugan, Michelle Cohen, Christie K...> ;Genetics in Medicine. 2021 Jul 13
• 2 citations
  A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
  Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock, Pengfei Liu, Jill V. Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Timot...> ;American Journal of Medical Genetics. Part A. 2021 May 5
• 11 citations
  Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia‐Gibbs Syndrome
  Michael M. Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W. Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L. Johnson, Ja...> ;Human Mutation. 2021 Feb 28
• 10 citations
  Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
  Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves, Barbara N. Pusey, Stephan Züchner, Elizabeth Blue, Hane Le...> ;Genetics in Medicine. 2021 Feb 12
• 70 citations
  Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
  David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela F. Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, M...> ;The Journal of Clinical Investigation. 2021 Jan 4
• 30 citations
  BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
  Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Ugur, Jeremy Wegner, Tiana M. Scott, Brett ...> ;American Journal of Human Genetics. 2020 Dec 3
• 4 citations
  Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
  Aniko Sabo, David R. Murdock, Shannon Dugan, Qingchang Meng, Marie-Claude Gingras, Jianhong Hu, Donna M. Muzny, Richard A. Gibbs> ;Molecular Genetics & Genomic Medicine. 2020 Aug 7
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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• 8 citations
  Enhancing Diagnosis Through RNA Sequencing.
  David R. Murdock> ;Clinics in Laboratory Medicine. 2020 Jun 1
• 2 citations
  Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
  Vivien Béziat, Simon Tavernier, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, Kathleen Claes, ...> ;The Journal of Experimental Medicine. 2020 Jun 1
• 75 citations
  Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
  Béziat, Tavernier Sj, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, Kathleen Claes, Gartner L,...> ;The Journal of Experimental Medicine. 2020 Jun 1
• 24 citations
  De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
  Hyunglok Chung, Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld, Lindsay C. Burrage, Pengfei Liu, David R. Murdock, Shinya Yamamoto, Michael F....> ;American Journal of Human Genetics. 2020 May 7
• 77 citations
  Harmonizing Clinical Sequencing And Interpretation For The Emerge III Network
  Hana Zouk, Eric Venner, Niall J. Lennon, Donna M. Muzny, Debra J. Abrams, Samuel E. Adunyah, Ladia Albertson-Junkans, Darren C. Ames, Paul S. Appelbaum, Samuel J. Aron...> ;American Journal of Human Genetics. 2019 Sep 5
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