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American Journal of Medical Genetics. Part A|September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implicationsK Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
Molecular Genetics and Metabolism Reports|November 9, 2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotypeRobert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, et al.
Molecular Genetics and Metabolism|April 11, 2025
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extensionUma Ramaswami, Esperanza Font-Montgomery, Ozlem Goker-Alpan, et al.
Frontiers in Pediatrics|March 7, 2025
Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiencyLissa X Yu, Jodie Johnson, Christine M Pennesi, et al.
Molecular Genetics and Metabolism|March 14, 2018
Fabry disease revisited: Management and treatment recommendations for adult patientsAlberto Ortiz, Dominique P Germain, Robert J Desnick, et al.
Journal of Medical Genetics|December 21, 2022
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomesDerralynn A Hughes, Daniel G Bichet, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|February 22, 2023
Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registryDeya Alkhatib, Jesus Avila Vega, Issa Pour-Ghaz, et al.
The Journal of Allergy and Clinical Immunology|July 22, 2015
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndromeAndrew W Lindsley, Howard M Saal, Thomas A Burrow, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisCedric Shackleton, Josep Marcos, Ewa M Malunowicz, et al.
Molecular Genetics & Genomic Medicine|September 8, 2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic featuresBianca E Russell, Diana Rigueur, Kathryn N Weaver, et al.
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