D. Dimmock

发表

Clinical utility of genomic sequencing: a measurement toolkit

V. Jobanputra, R. Green, E. Ashley, 2020, npj Genomic Medicine.

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

S. Kingsmore, Serge Batalov, L. Farnaes, 2017, Cold Spring Harbor molecular case studies.

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

S. Kingsmore, R. H. Kaplan, Bryce Waldman, 2021, American journal of human genetics.

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

S. Kingsmore, L. Farnaes, S. Chowdhury, 2019, Clinical case reports.

Effect of Sociodemographic Factors on Uptake of a Patient-Facing Information Technology Family Health History Risk Assessment Platform

Melissa L. Harry, G. Ginsburg, C. Voils, 2019, Applied Clinical Informatics.

Implementation, Adoption, and Utility of Family Health History Risk Assessment in Diverse Care Settings: evaluating implementation processes and impact with an implementation framework

Melissa L. Harry, G. Ginsburg, C. Voils, 2018, Genetics in Medicine.

Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices

D. Dimmock, J. Neuner, L. Orlando, 2019, Journal of General Internal Medicine.

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

S. Kingsmore, Nathaly M Sweeney, D. Dimmock, 2022, Prenatal diagnosis.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation

S. Rosenzweig, M. Tokita, M. Wright, 2021, Journal of Clinical Immunology.

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

D. Dimmock, G. Lipshutz, B. Greenberg, 2022, Human gene therapy.

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

K. Larimore, J. Vockley, D. Dimmock, 2018, Molecular genetics and metabolism.

Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities

Melissa L. Harry, D. Dimmock, R. Myers, 2022, BMC Health Services Research.

The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review.

C. Thornburg, B. Briggs, Nanda Ramchandar, 2020, The Journal of pediatrics.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

S. Kingsmore, M. Bainbridge, Julie A Cakici, 2018, npj Genomic Medicine.

Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.

C. Thornburg, B. Briggs, D. Dimmock, 2023, The Journal of pediatrics.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

B. Schoser, D. Dimmock, S. Prasad, 2017, BMC Neurology.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Jill L. Maron, S. Kingsmore, Marilyn C. Jones, 2023, American journal of medical genetics. Part A.

At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care

Melissa L. Harry, G. Ginsburg, D. Dimmock, 2020, BMC Health Services Research.

Biodistribution of adeno-associated virus gene therapy following CSF-directed administration.

C. Vite, D. Lim, D. Dimmock, 2023, Human gene therapy.

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.

David R. Murdock, Y. Liu, E. Remmers, 2023, The New England journal of medicine.

Neuropsychiatric Function Improvement in Pediatric Patients With Phenylketonuria.

S. Stahl, D. Dimmock, S. McCandless, 2023, The Journal of pediatrics.

Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria

S. Waisbren, N. Longo, Darren T. Janzen, 2021, American journal of medical genetics. Part A.

The Genomic landscape of short tandem repeats across multiple ancestries

S. Kingsmore, M. Bainbridge, Serge Batalov, 2023, PloS one.

Rapid genome sequencing identifies novel variants in complement factor I

N. Coufal, D. Dimmock, Richard J. H. Smith, 2022, Cold Spring Harbor molecular case studies.

Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.

S. Kingsmore, C. Bloss, C. Clarke, 2023, Clinical therapeutics.