A personal perspective on returning secondary results of clinical genome sequencing

Autor Dimmock, David
Vydáno 2012

Presentation and Diagnostic Evaluation of Mitochondrial Disease

Autor Dimmock, David P., Lawlor, Michael W.
Vydáno v Pediatr Clin North Am (2017)

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

Autor Helbling, Daniel, Buchaklian, Adam, Wang, Jing, Wong, Lee-Jun, Dimmock, David
Vydáno v J Pediatr Gastroenterol Nutr (2013)

Correction of Hyperbilirubinemia in Gunn Rats Using Clinically Relevant Low Doses of Helper-Dependent Adenoviral Vectors

Autor Dimmock, David, Brunetti-Pierri, Nicola, Palmer, Donna J., Beaudet, Arthur L., Ng, Philip
Vydáno 2011

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

Autor Schoser, Benedikt, Bilder, Deborah A., Dimmock, David, Gupta, Digant, James, Emma S., Prasad, Suyash
Vydáno v BMC Neurol (2017)

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

Autor Neuner, Joan, Dimmock, David, Kirschner, Alison La Pean, Beaudry, Hollie, Paradowski, Jill, Orlando, Lori
Vydáno v J Gen Intern Med (2019)

SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis

Autor Sampath, Venkatesh, Menden, Heather, Helbling, Daniel, Li, Keguo, Gastonguay, Adam, Ramchandran, Ramani, Dimmock, David P.
Vydáno v Pediatrics (2015)

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

Autor Ramchandar, Nanda, Ding, Yan, Farnaes, Lauge, Dimmock, David, Hobbs, Charlotte, Kingsmore, Stephen F., Bainbridge, Matthew
Vydáno v Sci Rep (2020)

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

Autor Briggs, Benjamin, James, Kiely N., Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Vydáno v Cold Spring Harb Mol Case Stud (2018)

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

Autor Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Vydáno v Cold Spring Harb Mol Case Stud (2017)

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

Autor Kadakia, Sejal, Farnaes, Lauge, Dimmock, David, Chowdhury, Shimul, Ding, Yan, Anderson, Eric J., Kingsmore, Stephen, Newfield, Ron S.
Vydáno v Clin Case Rep (2019)

An online compendium of treatable genetic disorders

Autor Bick, David, Bick, Sarah L., Dimmock, David P., Fowler, Tom A., Caulfield, Mark J., Scott, Richard H.
Vydáno v Am J Med Genet C Semin Med Genet (2020)

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

Autor Hildreth, Amber, Wigby, Kristen, Chowdhury, Shimul, Nahas, Shareef, Barea, Jaime, Ordonez, Paulina, Batalov, Sergey, Dimmock, David, Kingsmore, Stephen
Vydáno v Cold Spring Harb Mol Case Stud (2017)

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

Autor Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G., Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Vydáno v Cold Spring Harb Mol Case Stud (2018)

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

Autor Clark, Michelle M., Stark, Zornitza, Farnaes, Lauge, Tan, Tiong Y., White, Susan M., Dimmock, David, Kingsmore, Stephen F.
Vydáno v NPJ Genom Med (2018)

Rapid diagnosis of KCNQ2 associated early infantile epileptic encephalopathy improved outcome

Autor Chen, Dillon Y, Chowdhury, Shimul, Farnaes, Lauge, Friedman, Jennifer R., Honold, Jose, Dimmock, David P., Gold, Jeffrey J.
Vydáno v Pediatr Neurol (2018)

Necrotizing enterocolitis is not associated with sequence variants in Anti-Oxidant Response genes in premature infants

Autor Sampath, Venkatesh, Helbling, Daniel, Menden, Heather, Dimmock, David, Mulrooney, Neil P., Murray, Jeffrey C., Dagle, John M., Garland, Jeffery S.
Vydáno v J Pediatr Gastroenterol Nutr (2016)

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

Autor Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.
Vydáno v Cold Spring Harb Mol Case Stud (2020)

Anti-Oxidant Response Genes sequence variants and BPD susceptibility in VLBW infants

Autor Sampath, Venkatesh, Garland, Jeffery S., Helbling, Daniel, Dimmock, David, Mulrooney, Neil P., Simpson, Pippa M., Murray, Jeffrey C., Dagle, John M.
Vydáno v Pediatr Res (2014)

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm...

Autor Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Vydáno v Cold Spring Harb Mol Case Stud (2018)