David Valle (D Valle)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 7

Top Venues

American journal of medical genetics. Part A

Journal of inherited metabolic disease

Human mutation

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Johns Hopkins School of Medicine

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

Affiliation History

Johns Hopkins School of Medicine

United States

Henry J. Knott Professor and DIrector :: McKusick-Nathans Institute of Genetic Medicine

Publications

Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana Beatriz Alvarez Perez, David Valle, Elizabeth S Wohler, Nara Lygia de Macena Sobreira, Salmo Raskin
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 41 (2023)
S E Mitchell, Renan Paulo Martin, P Terry, S E Drant, David Valle, H Dietz, Nara Lygia de Macena Sobreira
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L. American journal of medical genetics. Part A (2023)
Angie C Jelin, Elizabeth Wohler, Renan Martin, Heather Di Carlo, William Isaacs, Joan Ko, Jason Michaud, Karin Blakemore, David Valle, Nara Lygia de Macena Sobreira, John Gearhart
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. American journal of medical genetics. Part A (2023)
Sangwoo T Han, Katherine J Anderson, Hans Tomas Bjornsson, Nicola Longo, David Valle
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. Journal of inherited metabolic disease 45 (4) (2022)
Ada Hamosh, Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S Rodrigues, Corina Antonescu, Kimberly F Doheny, David Valle, Nara Lygia de Macena Sobreira
The impact of GeneMatcher on international data sharing and collaboration. Human mutation 43 (6) (2022)
Charles Wray, Gregory Cox, David Valle
Victor McKusick and his short course. American journal of medical genetics. Part A 185 (11) (2021)
George Essien Umanah, Marco Pignatelli, Xiling Yin, Rong Chen, Joshua Crawford, Stewart Neifert, Leslie Scarffe, Adam A Behensky, Noah Guy Lewis Guiberson, Melissa Chang, Erica Ma, Jin Wan Kim, Cibele Canal Castro, Xiaobo Mao, Li Chen, Shaida A Andrabi, Mikhail V Pletnikov, Ann E Pulver, Dimitrios Avramopoulos, Antonello Bonci, David Valle, Ted M Dawson, Valina L Dawson
Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel. Science translational medicine 9 (420) (2018)

David Valle.css-eqlu8i{font-size:small;padding-left:4px;} (D Valle)

Publication Activity (10 Years)

Top Topics

Top Venues

David Valle (D Valle)