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Seminars in Pediatric Neurology|November 6, 2007
Genetics of craniosynostosisVirginia Kimonis, June-Anne Gold, Trevor L Hoffman, et al.European Journal of Medical Genetics|June 3, 2021
A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literatureAnandita Pattnaik, Alexandra Lim, Sara Sabeti, et al.American Journal of Medical Genetics. Part A|August 29, 2018
Phenotypic diversity of patients diagnosed with VACTERL associationMajid Husain, Marina Dutra-Clarke, Bryan Lemieux, et al.Journal of Assisted Reproduction and Genetics|September 18, 2009
Is gestation in Prader-Willi syndrome affected by the genetic subtype?Merlin G Butler, Jennifer Sturich, Susan E Myers, et al.Molecular Genetics and Metabolism Reports|September 21, 2021
Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry diseaseRyan Mahoney, Grace K Lee, Joaquin Ponce Zepeda, et al.Pharmacological Research|December 24, 2016
Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndromeMiki Igarashi, Vidya Narayanaswami, Virginia Kimonis, et al.Molecular Genetics and Metabolism Reports|July 5, 2022
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation studyChristoph Wanner, Virginia Kimonis, Juan Politei, et al.Molecular Genetics and Metabolism Reports|November 21, 2022
Polycystic kidney disease complicates renal pathology in a family with Fabry diseaseLeepakshi Johar, Grace Lee, Angela Martin-Rios, et al.Genes|June 24, 2022
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic DiagnosisGerald Pfeffer, Grace Lee, Carly S Pontifex, et al.American Journal of Medical Genetics. Part A|December 18, 2018
Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomesRanim Mahmoud, Preeti Singh, Lan Weiss, et al.Pageof 12