RongMaoMD

PubMed

• Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
  Jian Zhao, Nicola Longo, Robert G Lewis, Thomas J Nicholas, Steven E Boyden, Ashley Andrews, Austin Larson, , Pinar Bayrak-Toydemir, Lorenzo D Botto, Rong Mao> ;American Journal of Medical Genetics. Part A. 2024 May 1
• Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Soci...
  Funke, B., Eno, C., Ji, J., Santani, A., Bayrak-Toydemir, P., Wain, K., SoRelle, J., Wachsmann, M., Mao, R.> ;The Journal of Molecular Diagnostics. 2024 Mar 1
• 1 citations
  Hereditary Colorectal Cancer Diagnosis by Next-Generation Sequencing.
  Wen, T., Stanislaw, C., Hegde, M., Ehivet, F., Mao, R.> ;Current Protocols. 2023 Dec 1
• Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
  May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melis...> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 1 citations
  Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
  Joseph Reiley, Pablo Botas, Christine E Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H Grubb, Rong Mao, Julián Isla, Luca Brunelli> ;Children. 2023 Jun 1
• 1 citations
  -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of.
  Jordan Langford, Lana Vukadin, John C Carey, Lorenzo D Botto, Matt Velinder, Rong Mao, Christine E Miller, Francis Filloux, Eun-Young Erin Ahn> ;Neurology. Genetics. 2023 Jun 1
• Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisoma...
  Shruthi Mohan, Megan Mayers, Meredith Weaver, Heather Baudet, Irene De Biase, Jennifer Goldstein, Rong Mao, Jennifer McGlaughon, Ann Moser, Aurora Pujol, Sharon Suchy,...> ;Molecular Genetics and Metabolism. 2023 Jul 1
• 1 citations
  Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
  Sheppard, S., Bryant, L., Wickramasekara, R., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C., Faundes, V., Duffourd, Y., Lee, P., Simon, M., de la Cru...> ;Science Advances. 2023 Mar 10
• 3 citations
  Prader-Willi and Angelman Syndromes: Mechanisms and Management.
  Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar> ;The Application of Clinical Genetics. 2023 Jan 1
• 3 citations
  Rapid genome sequencing identifies a novel de novovariant for neonatal congenital myasthenic syndrome.
  Hayley M Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E Boyden, Pinar Bayrak-Toydemir, Thomas J Nicholas, Shawn Rynearson, Carson Holt, Christine ...> ;Cold Spring Harbor Molecular Case Studies. 2022 Dec 1
• 3 citations
  Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
  Rebecca L Margraf, Rachel Z Alexander, Makenzie L Fulmer, Christine E Miller, Elena Coupal, Rong Mao> ;Human Mutation. 2022 Dec 1
• Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.
  Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I Quigley, Kathleen Angkustsiri, Suma P Shankar> ;Molecular Genetics & Genomic Medicine. 2022 Oct 1
• 1 citations
  De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
  Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, Eleanor G Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pa...> ;Human Mutation. 2022 Dec 1
• 3 citations
  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
  Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez,...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 5 citations
  Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
  Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, Christine Miller, Rong Mao, Bailey Meibos, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Lincoln D Nadauld, Steven B B...> ;Pediatric Research. 2022 Nov 1
• 5 citations
  Autoantibodies targeting cytokines and connective tissue disease autoantigens are common in acute non-SARS-CoV-2 infections.
  Allan Feng, Emily Yang, Andrew Moore, Shaurya Dhingra, Sarah Chang, Xihui Yin, Ruoxi Pi, Elisabeth Mack, Sara Völkel, Reinhard Geßner, Margrit Gundisch, Andreas Neubau...> ;Research Square. 2022 Jan 20
• 1 citations
  : A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
  Alistair Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins, Barry Moore, Rong Mao, Pinar Bayrak-Toydemir, Gabor Marth> ;Journal of Personalized Medicine. 2022 Jan 8
• 40 citations
  Effective variant filtering and expected candidate variant yield in studies of rare human disease
  Brent S. Pedersen, Joseph Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter B...> ;NPJ Genomic Medicine. 2021 Jul 15
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
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• 25 citations
  Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Rong Mao, Patti Krautscheid, Rondell P. Graham, Arupa Ganguly, Suma P. Shankar, Matthew J. Ferber, Madhuri R Hegde> ;Genetics in Medicine. 2021 Jun 17
• 4 citations
  Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
  Thomas W. Prior, Pinar Bayrak-Toydemir, Ty C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Q...> ;The Journal of Molecular Diagnostics. 2021 Jan 1
• 5 citations
  A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
  Louis Viollet, Kathryn J. Swoboda, Rong Mao, Hunter Best, Youna Ha, Annick Toutain, Lucie Guyant-Maréchal, Cécile Laroche-Raynaud, Karima Ghorab, Marie Anne Barthez, J...> ;European Journal of Medical Genetics. 2020 Dec 1
• 74 citations
  Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
  Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Lishuang Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel E. Pineda-Alvarez, Larry N...> ;Human Mutation. 2020 Dec 1
• 1 citations
  Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.
  Wei Shen, Josue Flores-Daboub, Dave Viskochil, Sarah L. Dugan, Hunter Best, Rong Mao> ;Journal of Medical Genetics. 2020 Nov 1
• 3 citations
  Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
  Geraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran> ;Frontiers in Neurology. 2020 Oct 26
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