Kelly Watkins

Lysosomal diseases highly specialised services: Five centers service evaluation and experiences of patients and clinicians in laboratory diagnosis in England, United Kingdom

Hatim Y. Ebrahim, Charlotte Dawson, Kelly Watkins, Arunabha Ghosh et autres

P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing

Lucia Guidugli, Monia Benhamed Hammer, Bryant Cao, Joseph J. Shen et autres

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder primarily characterized by delayed muscle relaxation, skeletal muscle weakness, early-onset cataracts, cardiomyopathy, diabetes, and gonadal failure. The disease is caused by trinucleotide (CTG) repeat expansion (TRE) exceeding 50 copies in the …

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Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations

Kiely N. James, Shimul Chowdhury, Yan Ding, Serge Batalov et autres

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At home enzyme replacement therapy for patients with lysosomal disorders: A single-centre experience

Antonio F. Ochoa-Ferraro, Kelly Watkins, Andie Dayus-Reason, Shaun Christopher Bolton et autres

Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience

Antonio F. Ochoa-Ferraro, Sarah Steeds, Kelly Watkins, Shaun Christopher Bolton et autres

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Paul R. Mark, Stephen A. Murray, Tao Yang, Alexandra Eby et autres

analysis using multiple human/mouse data sets reveals a correlation to patient phenotypes of Peters plus syndrome with additional severe cardiomyopathy and blood vessel development complications linked to neural crest cells.

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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici et autres

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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran et autres

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Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*

Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes, Matthew R. Williams et autres

OBJECTIVES: Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome sequencing …

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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding et autres

By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified professionals to decipher results, however, precludes widespread implementation. …

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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Erica Sanford Kobayashi, Kelly Watkins, Shareef Nahas, Michael Everett Gottschalk et autres

Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, …

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Prevalence of Germline Mutations in Individuals with Multiple Colon Polyps

Shreya Sengupta, Kelly Watkins, Erika S. Koeppe, Monica L. Marvin et autres