Christin D. Collins

发表

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

A. O’Donnell-Luria, L. Kunkel, P. Kang, 2022, Annals of clinical and translational neurology.

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

Jiong Yan, E. Wartchow, S. Shankar, 2016, American journal of ophthalmology case reports.

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

A. Vanderver, S. Orcesi, A. Berardinelli, 2014 .

MCT8 Deficiency

A. Vanderver, S. Orcesi, A. Berardinelli, 2013, Journal of child neurology.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

M. Hegde, A. Kesari, A. Ankala, 2018, Annals of clinical and translational neurology.

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Lora J. H. Bean, M. Hegde, A. Ferlini, 2015, Annals of neurology.

Developmental Delay: Gene Testing

M. Friez, K. Champion, M. Basehore, 2016 .

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

Lora J. H. Bean, J. Balciuniene, Cristina da Silva, 2023, JAMA network open.

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.