PeterReginaldWhiteMD

PubMed

• 17 citations
  Phagosome-regulated mTOR signalling during sarcoidosis granuloma biogenesis.
  Elliott D. Crouser, Landon W. Locke, Mark W. Julian, Sabahattin Bicer, Wolfgang Sadee, Peter White, Larry S. Schlesinger> ;The European Respiratory Journal. 2021 Mar 1
• 11 citations
  Long COVID: don't consign ME/CFS to history.
  Peter White> ;Nature. 2020 Nov 10
• 12 citations
  YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.
  Kathleen M. Schieffer, Vibhuti Agarwal, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Tara M. Lichtenberg, Kristen M. Leraas, Patrick J. Brennan, Benjamin ...> ;The American Journal of Surgical Pathology. 2021 Mar 1
• 17 citations
  Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.
  Ajay Gupta, Jennifer A. Belsky, Kathleen M. Schieffer, Kristen M. Leraas, Elizabeth Varga, Sean McGrath, Selene C. Koo, Vincent Magrini, Richard K. Wilson, Peter White...> ;Cold Spring Harbor Molecular Case Studies. 2020 Oct 7
• 2 citations
  The Sensor Kinase QseC Regulates the Unlinked PmrA Response Regulator and Downstream Gene Expression in Francisella .
  Ky V. Hoang, James Fitch, Peter White, Nrusingh P. Mohapatra, John S. Gunn> ;Journal of Bacteriology. 2020 Oct 8
• Author Correction: Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease.
  Susan E Creary, Chandra L. Shrestha, Kavitha Kotha, Abena Minta, James Fitch, Lisa Jaramillo, Shuzhong Zhang, Swaroop Pinto, Rohan Thompson, Octavio Ramilo, Peter Whit...> ;Scientific Reports. 2020 Aug 6
• 18 citations
  Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.
  Katherine E. Miller, Daniel C. Koboldt, Kathleen M. Schieffer, Tracy A. Bedrosian, Erin Crist, Adrienne Sheline, Kristen M. Leraas, Vincent Magrini, Huachun Zhong, Pat...> ;Neurology. Genetics. 2020 Aug 1
• 2 citations
  Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
  Daniel C. Koboldt, Scott E. Hickey, Bimal Chaudhari, Theresa Mihalic Mosher, Tracy A. Bedrosian, Erin Crist, Stephen G. Kaler, Kim L. McBride, Peter White, Richard K. ...> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
• 2 citations
  Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease.
  Susan E Creary, Chandra L. Shrestha, Kavitha Kotha, Abena Minta, James Fitch, Lisa Jaramillo, Shuzhong Zhang, Swaroop Pinto, Rohan Thompson, Octavio Ramilo, Peter Whit...> ;Scientific Reports. 2020 Jun 2
• 11 citations
  Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
  Cecelia R. Miller, Kristy Lee, Ruthann Pfau, Shalini C. Reshmi, Donald J. Corsmeier, Sayaka Hashimoto, Ashita Dave-Wala, Vijayakumar Jayaraman, Daniel C. Koboldt, Theo...> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 1
• 15 citations
  Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
  Sathiya N. Manivannan, Sihem Darouich, Aida Masmoudi, David M Gordon, Gloria Zender, Zhe Han, Sara Fitzgerald-Butt, Peter White, Kim L. McBride, Maher Kharrat, Vidu Garg> ;Plos Genetics. 2020 May 26
• 24 citations
  Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
  Mohamed H. Abdel-Rahman, Klarke M. Sample, Robert Pilarski, T. Walsh, Timothy W. Grosel, Daniel D. Kinnamon, Getachew Boru, James B. Massengill, Lynn Schoenfield, Ben ...> ;Ophthalmology. 2020 May 1
• 9 citations
  De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation
  Huifei Liu, Terri Guinipero, Kathleen M. Schieffer, Chris Carter, Susan Colace, Jeffrey R. Leonard, Brent A. Orr, Samir B. Kahwash, Patrick J. Brennan, James Fitch, Be...> ;Haematologica. 2020 Apr 1
• 1 citations
  Publisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function.
  Vijay Saxena, James Fitch, John Ketz, Peter White, Amy Wetzel, Melinda A. Chanley, John David Spencer, Brian Becknell, Keith R. Pierce, Sam W. Arregui, Raoul D. Nelson...> ;Scientific Reports. 2020 Mar 17
• 10 citations
  Continuous Microevolution Accelerates Disease Progression during Sequential Episodes of Infection.
  Alistair Harrison, Rachael L. Hardison, Audra R. Fullen, Rachel M. Wallace, David M Gordon, Peter White, Ryan N. Jennings, Sheryl S. Justice, Kevin M. Mason> ;Cell Reports. 2020 Mar 3
• 33 citations
  Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis
  Benjamin T. Kopp, James Fitch, Lisa Jaramillo, Chandra L. Shrestha, Frank Robledo-Avila, Shuzhong Zhang, Sabrina Palacios, Fred Woodley, Don Hayes, Santiago Partida-Sa...> ;Journal of Cystic Fibrosis. 2020 Mar 1
• 1 citations
  Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study.
  William C. L. Stewart, Komla M Gnona, Peter White, Ben Kelly, Mark A. Klebanoff, Irina A. Buhimschi, Leif D. Nelin> ;Pediatric Research. 2020 Feb 5
• 1 citations
  Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
  Scott E. Hickey, Daniel C. Koboldt, Theresa Mihalic Mosher, Patrick J. Brennan, Beth A. Schmalz, Erin Crist, Kim L. McBride, Brent Adler, Peter White, Richard K. Wilson> ;Cold Spring Harbor Molecular Case Studies. 2019 Dec 13
• 9 citations
  Reprioritization of biofilm metabolism is associated with nutrient adaptation and long-term survival of Haemophilus influenzae.
  Alistair Harrison, Rachael L. Hardison, Rachel M. Wallace, James Fitch, Derek R. Heimlich, Meghan O’ Bryan, Laura G. Dubois, Lisa St. John-Williams, Robert Sebra, Pete...> ;NPJ Biofilms and Microbiomes. 2019 Nov 5
• 21 citations
  Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
  Suzanna G.M. Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E. Hickey, Molka Kammoun, Kare...> ;Molecular Psychiatry. 2019 Nov 1
• 11 citations
  Establishment of Chronic Typhoid Infection in a Mouse Carriage Model Involves a Type 2 Immune Shift and T and B Cell Recruitment to the Gallbladder.
  Juan F. González, Jonathan R Kurtz, David L. Bauer, Regan Hitt, James Fitch, Amy Wetzel, Krista M. D. La Perle, Peter White, James B. McLachlan, John S. Gunn> ;Mbio. 2019 Oct 1
• 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
• 5 citations
  Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.
  Charlotte A. Darby, James Fitch, Patrick J. Brennan, Benjamin J. Kelly, Natalie Bir, Vincent Magrini, Jeffrey R. Leonard, Catherine E. Cottrell, Julie M. Gastier-Foste...> ;Iscience. 2019 Aug 30
• 9 citations
  Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
  Kathleen M. Schieffer, Elizabeth Varga, Katherine E. Miller, Vibhuti Agarwal, Daniel C. Koboldt, Patrick J. Brennan, Benjamin J. Kelly, Ashita Dave-Wala, Christopher R...> ;European Journal of Medical Genetics. 2019 Aug 1
• 7 citations
  Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
  Theresa Mihalic Mosher, Deborah A. Zygmunt, Daniel C. Koboldt, Benjamin J. Kelly, Lisa R. Johnson, David S. McKenna, Benjamin C. Hood, Scott E. Hickey, Peter White, Ri...> ;European Journal of Human Genetics. 2019 Jul 5
• Join now to see all