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American Journal of Human Genetics|July 9, 2008
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsMatteo M Guerrini, Cristina Sobacchi, Barbara Cassani, et al.
American Journal of Medical Genetics. Part A|December 11, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorderRuth Richardson, Diana Baralle, Christopher Bennett, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Haematologica|April 13, 2023
Higher-dose venetoclax with measurable residual disease-guided azacitidine discontinuation in newly diagnosed acute myeloid leukemiaJonathan A Gutman, Amanda Winters, Andrew Kent, et al.
Haematologica|June 27, 2024
Lysosomal acid lipase A modulates leukemia stem cell response to venetoclax/tyrosine kinase inhibitor combination therapy in blast phase chronic myeloid leukemiaMohd Minhajuddin, Amanda Winters, Haobin Ye, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm studyM Luu, P Vabres, H Devilliers, et al.
JACC. Advances|May 28, 2026
Adult Congenital Heart Disease Workforce Challenges in the United States: Current State and Future Needs: Proceedings from the American College of Cardiology (ACC), Adult Congenital Pediatric Cardiology (ACPC) Council Adult Congenital Heart Disease SummitAli N Zaidi, Ritu Sachdeva, Richard Kovacs, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.
Orphanet Journal of Rare Diseases|July 21, 2019
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual DisabilityJill Clayton-Smith, Rebecca Bromley, John Dean, et al.
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