D. Dimmock

J. Dunn, R. Horvath, D. Dimmock, 2008, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

R. Carrozzo, W. Craigen, G. Enns, 2008, Human mutation.

A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome

D. Dimmock, J. Lemasters, A. Geurts, 2018, Cell reports.

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

D. Dimmock, L. Wong, M. Descartes, 2010, Mitochondrion.

Assuring the quality of next-generation sequencing in clinical laboratory practice

Shashikant Kulkarni, Bin Chen, Philip L. F. Johnson, 2012, Nature Biotechnology.

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.

V. Nadkarni, J. Poeschl, M. T. Meyer, 2013, Molecular genetics and metabolism.

Diversion of aspartate in ASS1-deficient tumors fosters de novo pyrimidine synthesis

E. Ruppin, S. Itzkovitz, Keren Yizhak, 2015, Nature.

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

D. Dimmock, D. Helbling, David Dimmock, 2012, Journal of pediatric gastroenterology and nutrition.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

David P Bick, David P Dimmock, Ulrich Broeckel, 2011, Genetics in Medicine.

Moving Genomics to Routine Care

Rahul C. Deo, S. Kingsmore, A. Pantazi, 2020, Circulation. Genomic and precision medicine.

An Initial Pilot in Acute Cardiovascular Disease

S. Kingsmore, A. Pantazi, R. Deo, 2020 .

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

S. Kingsmore, L. Farnaes, D. Dimmock, 2018, npj Genomic Medicine.

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases

S. Kingsmore, L. Farnaes, D. Dimmock, 2018, bioRxiv.

Whole Exome and Whole Genome Sequencing – Community Plan Medical Policy

D. Bick, D. Dimmock, David Dimmock, 2018 .

Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma

Jessica M. Rusert, Edwin F. Juarez, James D. Jensen, 2020, Cancer Research.

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection

I. Benjamin, J. Verbsky, D. Dimmock, 2017, Stem cell reports.

Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections

D. Salyakina, N. Coufal, B. Briggs, 2021, Open forum infectious diseases.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

S. Kingsmore, M. Bainbridge, Marilyn C. Jones, 2020, Cold Spring Harbor molecular case studies.

Whole Genome Sequencing : A Considered Approach to Clinical Implementation

D. Dimmock, David Dimmock, 2013 .

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

Stephen F. Kingsmore, Michael Gottschalk, Nicole G. Coufal, 2018, Cold Spring Harbor molecular case studies.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2017, npj Genomic Medicine.

Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience

D. Dimmock, K. Strong, C. L. Bishop, 2017, Clinical genetics.

Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

A. Lemke, D. Bick, D. Dimmock, 2013, Clinical genetics.

A personal perspective on returning secondary results of clinical genome sequencing

D. Dimmock, 2012, Genome Medicine.

Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report

D. Dimmock, Katarzyna A Ellsworth, I. Chandrasekar, 2021, American journal of medical genetics. Part A.

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.

S. Kingsmore, C. Bloss, D. Dimmock, 2020, American journal of human genetics.

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

S. Kingsmore, M. Bainbridge, N. Coufal, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Shimul Chowdhury, Kiely N. James, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2017, bioRxiv.

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

S. Kingsmore, Serge Batalov, N. Veeraraghavan, 2021, NPJ genomic medicine.

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

S. Kingsmore, M. Bainbridge, Nanda Ramchandar, 2020, Scientific Reports.

Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission

Christine M. Aceves, Kristian G. Andersen, S. Kingsmore, 2021, medRxiv.

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, 2020, npj Genomic Medicine.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

D. Weeks, S. Ferdinandusse, D. Dimmock, 2020, American journal of medical genetics. Part A.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

A. C. Chinault, A. Chinault, D. Dimmock, 2008, Clinical chemistry.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

V. Fellman, Matteo P. Ferla, Jenny C. Taylor, 2021, Annals of clinical and translational neurology.

Rapid Whole Genome Sequencing Decreases Morbidity and Healthcare Cost of Hospitalized Infants

S. Kingsmore, M. Bainbridge, R. H. Kaplan, 2018, bioRxiv.

Clinical decisions. Screening an asymptomatic person for genetic risk.

W. Burke, D. Dimmock, 2014, The New England journal of medicine.

Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study

G. Ginsburg, C. McCarty, D. Dimmock, 2015, Implementation Science.

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

D. Dimmock, S. Ware, D. Helbling, 2012, Molecular genetics and metabolism.

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

S. Kingsmore, M. Bainbridge, R. H. Kaplan, 2018, npj Genomic Medicine.

Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities

M. Dwinell, D. Dimmock, M. Lawlor, 2018, Journal of neuropathology and experimental neurology.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

R. Banerjee, T. Haack, D. Dimmock, 2020, Journal of inherited metabolic disease.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

M. Gambello, D. Dimmock, Rani H. Singh, 2018, Molecular genetics and metabolism.

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

D. Dimmock, A. Basinger, L. Wong, 2009, Journal of pediatric gastroenterology and nutrition.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

W. O'Brien, S. Cederbaum, M. Gambello, 2009, Human Genetics.

Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure

D. Dimmock, L. Wong, Jing Wang, 2013, Journal of pediatric gastroenterology and nutrition.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

D. Dimmock, C. Meghea, P. Karna, 2023, Children.

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

D. Dimmock, L. Franck, Andrea Scheurer-Monaghan, 2022, Children.

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

V. Jobanputra, C. Marshall, E. Ashley, 2020, Genome Medicine.

An online compendium of treatable genetic disorders

M. Caulfield, R. Scott, D. Bick, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors.

A. Beaudet, N. Brunetti‐Pierri, D. Dimmock, 2011, Human gene therapy.

815. Aerosol Delivery of Helper-Dependent Adenoviral Vector into Nonhuman Primate Lungs Results in High Efficiency Pulmonary Transduction with Minimal Toxicity

A. Beaudet, N. Brunetti‐Pierri, D. Dimmock, 2005 .

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.

The evolution of the mitochondrial disease diagnostic odyssey

J. Krischer, D. Dimmock, K. Engelstad, 2023, Orphanet Journal of Rare Diseases.

Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency

R. Sebro, U. Broeckel, D. Dimmock, 2012, Clinical genetics.

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia

M. Waknitz, J. Southern, D. Dimmock, 2015, Journal of Perinatology.

D. Dimmock, F. Scaglia, L. Wong, 2009 .

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

A. C. Chinault, W. Hwu, D. Dimmock, 2008, Archives of Disease in Childhood.

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

S. Kingsmore, N. Coufal, Erika T. Allred, 2023, Frontiers in Pediatrics.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Zornitza Stark, Tiong Y Tan, Susan M White, 2018, npj Genomic Medicine.

Whole exome and whole genome sequencing

D. Bick, D. Dimmock, David Dimmock, 2011, Current opinion in pediatrics.

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

S. Kingsmore, M. Bainbridge, Nanda Ramchandar, 2020, Scientific Reports.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

A. Chinault, D. Dimmock, F. Scaglia, 2008, Clinical chemistry.

Genomics in Clinical Practice: Lessons from the Front Lines

Jeremy M. Harris, H. Jacob, M. Shimoyama, 2013, Science Translational Medicine.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

A. Lemke, D. Bick, D. Dimmock, 2013, Clinical genetics.

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

D. Dimmock, D. Helbling, J. Jarzembowski, 2012, Journal of pediatric gastroenterology and nutrition.

Response to Grosse et al.

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2023, American Journal of Human Genetics.

Hypertrophic Cardiomyopathy: A New Mutation Illustrates the Need for Family-Centered Care

D. Dimmock, M. Samyn, Regan L. Veith, 2014, Pediatric Cardiology.