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Author Details

David Dimmock
Rady Children's Institute for Genomic Medicine
2007
148
39
PMIDPaper TitleJournal TitlePublished Year
36701310The Genomic landscape of short tandem repeats across multiple ancestries.PLoS One2023
35861277Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.Liver Transpl2023
37256972Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome.N Engl J Med2023
37349818The evolution of the mitochondrial disease diagnostic odyssey.Orphanet J Rare Dis2023
37474973Correction to: The evolution of the mitochondrial disease diagnostic odyssey.Orphanet J Rare Dis2023
37267897Response to Grosse et al.Am J Hum Genet2023
36999085Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.Front Pediatr2023
37429778Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.Clin Ther2023
37263523Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.J Pediatr2023
36651673Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.Am J Med Genet A2023
36646249Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.J Pediatr2023
36606687Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration.Hum Gene Ther2023
36670656Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.Children (Basel)2023
34826353Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.Am J Med Genet A2022
35411350Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission.medRxiv2022
35798029Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission.Nature2022
35723630Better and faster is cheaper.Hum Mutat2022
36474257Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.BMC Health Serv Res2022
36577522Rapid genome sequencing identifies novel variants in complement factor I.Cold Spring Harb Mol Case Stud2022
35994385Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches.Hum Gene Ther2022
35882841An automated 13.5â¿¿hour system for scalable diagnosis and acute management guidance for genetic diseases.Nat Commun2022
36007526A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.Am J Hum Genet2022
35327729Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.Children (Basel)2022
35141907Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.Prenat Diagn2022
35141181Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.Front Pediatr2022
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
33350578An online compendium of treatable genetic disorders.Am J Med Genet C Semin Med Genet2021
33587123Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.JAMA Pediatr2021
33888711Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.NPJ Genom Med2021
33749980Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.Am J Med Genet A2021
33855675Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.J Clin Immunol2021
34662929Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.Ann Clin Transl Neurol2021
34570182Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.JAMA Pediatr2021
34390697Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation.J Pediatr2021
34849253Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.J Clin Transl Sci2021
34104666Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections.Open Forum Infect Dis2021
34077649Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.N Engl J Med2021
34076366Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.Mol Genet Genomic Med2021
34040193Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genet Med2021
34039997Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.NPJ Genom Med2021
34039980Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.NPJ Genom Med2021
34322569Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections.Open Forum Infect Dis2021
34089648Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.Am J Hum Genet2021
34023348Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption.J Pediatr2021
33112498ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.Am J Med Genet A2021
33368311The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.J Inherit Metab Dis2021
33270378Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive population.Pediatr Pulmonol2021
31462712The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.Oncogene2020
31667742Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices.J Gen Intern Med2020
32014857Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.Cold Spring Harb Mol Case Stud2020
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Collaborators

Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Co-authored papers 39
David Bick
Genomics England Ltd.
Co-authored papers 14
Serge Batalov
Co-authored papers 13
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 12
Michelle M Clark
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital
Co-authored papers 12
Ashok Veeraraghavan
Rice University
Co-authored papers 11
Nicole G Coufal
University of California
Co-authored papers 10
Julie A Cakici
School of Public Health, San Diego State University
Co-authored papers 9
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 9
Elizabeth A Worthey
Heersink School of Medicine, The University of Alabama at Birmingham
Co-authored papers 8
Sumit Parikh
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 7
Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 7
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 6
Lori A Orlando
Duke University School of Medicine
Co-authored papers 6
Bruce H Cohen
Akron Children's Hospital
Co-authored papers 6
Amy Goldstein
Children's Hospital of Philadelphia
Co-authored papers 6
Richard Haas
University of California
Co-authored papers 6
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Co-authored papers 5
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 5
Howard J Jacob
Genomics Research Center
Co-authored papers 5
Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
Co-authored papers 5
Martin G Reese
Fabric Genomics Inc.
Co-authored papers 5
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 5
Geoffrey S Ginsburg
National Institutes of Health
Co-authored papers 5
Christina Clarke
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital
Co-authored papers 5
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 4
John W Belmont
Baylor College of Medicine
Co-authored papers 4
Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 4
Tejinder Rakhra-Burris
Center for Applied Genomics and Precision Medicine, Duke University
Co-authored papers 4
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
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