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Epilepsia Open|March 8, 2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for familiesJennifer S Jeffrey, Janet Leathem, Chontelle King, et al.
Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.
Transfusion|December 7, 2017
Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predispositionSavannah Mwesigwa, Joann M Moulds, Alice Chen, et al.
Pediatric Neurology|August 22, 2017
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite ElevationsKirk L Pappan, Adam D Kennedy, Pilar L Magoulas, et al.
BMC Medical Genetics|April 26, 2011
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approachNeil A Hanchard, Jennifer Skierka, Amy Weaver, et al.
Nature Reviews. Endocrinology|April 16, 2026
Precision medicine in low-income settings and small island developing statesSushant Saluja, Fahmida Mannan, Guillaume Pare, et al.
Seizure|October 16, 2018
Dravet syndrome in South African infants: Tools for an early diagnosisAlina I Esterhuizen, Heather C Mefford, Rajkumar S Ramesar, et al.
Neurology. Genetics|July 15, 2025
The Association Between Sleep Phenotypes and Epilepsy GenesJonathan Read Gaillard, Gita Gupta, Heather C Mefford, et al.
Frontiers in Genetics|June 25, 2019
Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in AfricaKhuthala Mnika, Gaston K Mazandu, Mario Jonas, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAlexander G Bassuk, Eileen Geraghty, Shu Wu, et al.
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