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Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|May 28, 2026
Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenationNicholas R Carr, Makenzie L Fulmer, Jennifer Rumpel, et al.
Blood Advances|March 3, 2025
Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencingTing Wen, Steven E Boyden, Caleb M Hocutt, et al.
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
The New England Journal of Medicine|February 4, 2016
Vibratory Urticaria Associated with a Missense Variant in ADGRE2Steven E Boyden, Avanti Desai, Glenn Cruse, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
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