Peter White

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 17

Top Venues

Cold Spring Harbor molecular case studies

Scientific reports

PLoS genetics

NPJ biofilms and microbiomes

This page only lists publications with an associated author ORCID identifier.

Publications

Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D Patel, Samuel J Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L McBride, Daniel C Koboldt, Richard K Wilson
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harbor molecular case studies 8 (2) (2022)
Summer R Fair, Wesley Schwind, Dominic Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester
Cerebral organoids containing an AUTS2 missense variant model microcephaly. Brain : a journal of neurology (2022)
Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, Scott E Hickey, Rachel K Williamson, Shannon Garner, Adam P Ostendorf, Kristy Lee, Peter White, Richard K Wilson
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. Cold Spring Harbor molecular case studies (2022)
David M Gordon, David Cunningham, Gloria Zender, Patrick J Lawrence, Jacqueline S Penaloza, Hui Lin, Sara M Fitzgerald-Butt, Katherine Myers, Tiffany Duong, Donald J Corsmeier, Jeffrey B Gaither, Harkness C Kuck, Saranga Wijeratne, Blythe Moreland, Benjamin J Kelly, null null, Vidu Garg, Peter White, Kim L McBride
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery. PLoS genetics 18 (6) (2022)
Elliott D Crouser, Landon W Locke, Mark W Julian, Sabahattin Bicer, Wolfgang Sadee, Peter White, Larry S Schlesinger
Phagosome-regulated mTOR signalling during sarcoidosis granuloma biogenesis. The European respiratory journal 57 (3) (2021)
Mohammad Marhabaie, Scott E Hickey, Katherine Miller, Olivia Grischow, Kathleen M Schieffer, Samuel J Franklin, David M Gordon, Samantha Choi, Theresa Mihalic Mosher, Peter White, Daniel C Koboldt, Richard K Wilson
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harbor molecular case studies 7 (6) (2021)
Stephanie LaHaye, James R Fitch, Kyle J Voytovich, Adam C Herman, Benjamin J Kelly, Grant E Lammi, Jeremy A Arbesfeld, Saranga Wijeratne, Samuel J Franklin, Kathleen M Schieffer, Natalie Bir, Sean D McGrath, Anthony R Miller, Amy Wetzel, Katherine E Miller, Tracy A Bedrosian, Kristen Leraas, Elizabeth A Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R Boué, Jeffrey R Leonard, Jonathan L Finlay, Mohamed S Abdelbaki, Diana S Osorio, Selene C Koo, Daniel C Koboldt, Alex H Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrózek, Vincent Magrini, Catherine E Cottrell, Elaine R Mardis, Richard K Wilson, Peter White
Discovery of clinically relevant fusions in pediatric cancer. BMC genomics 22 (1) (2021)
Ajay Gupta, Jennifer A Belsky, Kathleen M Schieffer, Kristen Leraas, Elizabeth Varga, Sean D McGrath, Selene C Koo, Vincent Magrini, Richard K Wilson, Peter White, Elaine R Mardis, Kris R Jatana, Catherine E Cottrell, Bhuvana A Setty
Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib. Cold Spring Harbor molecular case studies 6 (5) (2020)
Sathiyanarayanan Manivannan, Sihem Darouich, Aida Masmoudi, David M Gordon, Gloria Zender, Zhe Han, Sara M Fitzgerald-Butt, Peter White, Kim L McBride, Maher Kharrat, Vidu Garg
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS genetics 16 (5) (2020)
Katherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, Tracy A Bedrosian, Erin Crist, Adrienne Sheline, Kristen Leraas, Vincent Magrini, Huachun Zhong, Patrick Brennan, Jocelyn Bush, James Fitch, Natalie Bir, Anthony R Miller, Catherine E Cottrell, Jeffrey Leonard, Jonathan A Pindrik, Jerome A Rusin, Summit H Shah, Peter White, Richard K Wilson, Elaine R Mardis, Christopher R Pierson, Adam P Ostendorf
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue. Neurology. Genetics 6 (4) (2020)
Vijay Saxena, James Fitch, John Ketz, Peter White, Amy Wetzel, Melinda A Chanley, John D Spencer, Brian Becknell, Keith R Pierce, Sam W Arregui, Raoul D Nelson, George J Schwartz, Victoria Velazquez, Logan A Walker, Xi Chen, Pearlly Yan, David S Hains, Andrew L Schwaderer
Publisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function. Scientific reports 10 (1) (2020)
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, Shalini C Reshmi, Donald J Corsmeier, Sayaka Hashimoto, Ashita Dave-Wala, Vijayakumar Jayaraman, Daniel Koboldt, Theodora Matthews, Danielle Mouhlas, Maggie Stein, Aimee McKinney, Tom Grossman, Benjamin J Kelly, Peter White, Vincent Magrini, Richard K Wilson, Elaine R Mardis, Catherine E Cottrell
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. Cold Spring Harbor molecular case studies 6 (3) (2020)
Alistair Harrison, Rachael L Hardison, Rachel M Wallace, James Fitch, Derek R Heimlich, Meghan O' Bryan, Laura Dubois, Lisa St John-Williams, Robert P Sebra, Peter White, M Arthur Moseley, J Will Thompson, Sheryl S Justice, Kevin M Mason
Reprioritization of biofilm metabolism is associated with nutrient adaptation and long-term survival of Haemophilus influenzae. NPJ biofilms and microbiomes 5 (1) (2019)
Vijay Saxena, James Fitch, John Ketz, Peter White, Amy Wetzel, Melinda A Chanley, John D Spencer, Brian Becknell, Keith R Pierce, Sam W Arregui, Raoul D Nelson, George J Schwartz, Victoria Velazquez, Logan A Walker, Xi Chen, Pearlly Yan, David S Hains, Andrew L Schwaderer
Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function. Scientific reports 9 (1) (2019)
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, Richard K Wilson, Paul T Martin, Kim L McBride
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. European journal of human genetics : EJHG 27 (10) (2019)
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric A Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular psychiatry 24 (11) (2018)
Atsuhiro Tsutiya, Yui Nakano, Emily Hansen-Kiss, Benjamin Kelly, Masugi Nishihara, Yoshio Goshima, Don Corsmeier, Peter White, Gail E Herman, Ritsuko Ohtani-Kaneko
Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Scientific reports 7 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Peter White