David Dimmock

Title(s)Associate Physician, Family Med And Public Health
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation. J Pediatr. 2021 Aug 11. Franck LS, Dimmock D, Hobbs C, Kingsmore SF. PMID: 34390697.
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    2. Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections. Open Forum Infect Dis. 2021 Jul; 8(7):ofab346. Ramchandar N, Burns J, Coufal NG, Pennock A, Briggs B, Stinnett R, Bradley J, Arnold J, Liu GY, Pring M, Upasani VV, Rickert K, Dimmock D, Chiu C, Farnaes L, Cannavino C. PMID: 34322569.
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    3. Project 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 Genet. 2021 07 01; 108(7):1231-1238. Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. PMID: 34089648.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. N Engl J Med. 2021 06 03; 384(22):2159-2161. Owen MJ, Niemi AK, Dimmock DP, Speziale M, Nespeca M, Chau KK, Van Der Kraan L, Wright MS, Hansen C, Veeraraghavan N, Ding Y, Lenberg J, Chowdhury S, Hobbs CA, Batalov S, Zhu Z, Nahas SA, Gilmer S, Knight G, Lefebvre S, Reynders J, Defay T, Weir J, Thomson VS, Fraser L, Lajoie BR, McPhail TK, Mehtalia SS, Kunard CM, Hall KP, Kingsmore SF. PMID: 34077649.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Mol Genet Genomic Med. 2021 Jul; 9(7):e1623. Friedman J, Bird LM, Haas R, Robbins SL, Nahas SA, Dimmock DP, Yousefzadeh MJ, Witt MA, Niedernhofer LJ, Chowdhury S. PMID: 34076366.
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    6. Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ Genom Med. 2021 May 26; 6(1):39. Sweeney NM, Nahas SA, Chowdhury S, Batalov S, Clark M, Caylor S, Cakici J, Nigro JJ, Ding Y, Veeraraghavan N, Hobbs C, Dimmock D, Kingsmore SF. PMID: 34039980.
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    7. Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ Genom Med. 2021 May 26; 6(1):38. Sweeney NM, Nahas SA, Chowdhury S, Batalov S, Clark M, Caylor S, Cakici J, Nigro JJ, Ding Y, Veeraraghavan N, Hobbs C, Dimmock D, Kingsmore SF. PMID: 34039997.
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    8. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med. 2021 May 26. Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M. PMID: 34040193.
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    9. Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption. J Pediatr. 2021 May 21. Franck LS, Kriz RM, Rego S, Garman K, Hobbs C, Dimmock D. PMID: 34023348.
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    10. Novel 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 Pediatr. 2021 May 01; 175(5):e205906. Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM. PMID: 33587123.
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    11. Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ Genom Med. 2021 Apr 22; 6(1):29. Sweeney NM, Nahas SA, Chowdhury S, Batalov S, Clark M, Caylor S, Cakici J, Nigro JJ, Ding Y, Veeraraghavan N, Hobbs C, Dimmock D, Kingsmore SF. PMID: 33888711.
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    12. Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation. J Clin Immunol. 2021 Aug; 41(6):1241-1249. Kuehn HS, Gloude NJ, Dimmock D, Tokita M, Wright M, Rosenzweig SD, Collins C. PMID: 33855675.
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    13. Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. Am J Med Genet A. 2021 07; 185(7):2126-2130. Chandrasekar I, Tourney A, Loo K, Carmichael J, James K, Ellsworth KA, Dimmock D, Joseph M. PMID: 33749980.
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    14. Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections. Open Forum Infect Dis. 2021 Jun; 8(6):ofab104. Ramchandar N, Coufal NG, Warden AS, Briggs B, Schwarz T, Stinnett R, Xie H, Schlaberg R, Foley J, Clarke C, Waldeman B, Enriquez C, Osborne S, Arrieta A, Salyakina D, Janvier M, Sendi P, Totapally BR, Dimmock D, Farnaes L. PMID: 34104666.
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    15. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats. J Inherit Metab Dis. 2021 03; 44(2):492-501. Vanden Avond MA, Meng H, Beatka MJ, Helbling DC, Prom MJ, Sutton JL, Slick RA, Dimmock DP, Pertusati F, Serpi M, Pileggi E, Crutcher P, Thomas S, Lawlor MW. PMID: 33368311.
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    16. An online compendium of treatable genetic disorders. Am J Med Genet C Semin Med Genet. 2021 03; 187(1):48-54. Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH. PMID: 33350578.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. Clinical utility of genomic sequencing: a measurement toolkit. NPJ Genom Med. 2020 Dec 15; 5(1):56. Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E, Medical Genome Initiative . PMID: 33319814.
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    18. Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive population. Pediatr Pulmonol. 2021 02; 56(2):516-524. Gatcliffe C, Rao A, Brigger M, Dimmock D, Hansen C, Montgomery J, Schlaberg R, Coufal NG, Farnaes L. PMID: 33270378.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952. Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators . PMID: 33157007.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    20. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. Am J Hum Genet. 2020 11 05; 107(5):953-962. Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS. PMID: 33157008.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    21. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ Genom Med. 2020; 5:49. Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C. PMID: 33154820.
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    22. ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. Am J Med Genet A. 2021 01; 185(1):157-167. Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE, Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group , Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. PMID: 33112498.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    23. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020; 5:47. Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ, Medical Genome Initiative . PMID: 33110627.
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    24. Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma. Cancer Res. 2020 12 01; 80(23):5393-5407. Rusert JM, Juarez EF, Brabetz S, Jensen J, Garancher A, Chau LQ, Tacheva-Grigorova SK, Wahab S, Udaka YT, Finlay D, Seker-Cin H, Reardon B, Gröbner S, Serrano J, Ecker J, Qi L, Kogiso M, Du Y, Baxter PA, Henderson JJ, Berens ME, Vuori K, Milde T, Cho YJ, Li XN, Olson JM, Reyes I, Snuderl M, Wong TC, Dimmock DP, Nahas SA, Malicki D, Crawford JR, Levy ML, Van Allen EM, Pfister SM, Tamayo P, Kool M, Mesirov JP, Wechsler-Reya RJ. PMID: 33046443.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    25. Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). Sanford E, Jones MC, Brigger M, Hammer M, Giudugli L, Kingsmore SF, Dimmock D, Bainbridge MN. PMID: 33028643.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    26. Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease. Circ Genom Precis Med. 2020 10; 13(5):406-416. Aryan Z, Szanto A, Pantazi A, Reddi T, Rheinstein C, Powers W, Wilson E, Deo RC, Chowdhury S, Salz L, Dimmock D, Nahas S, Benson W, Kingsmore SF, MacRae CA, Vuzman D. PMID: 32847406.
      View in: PubMed   Mentions: 1     Fields:    
    27. Diagnosis of cytomegalovirus infection from clinical whole genome sequencing. Sci Rep. 2020 07 03; 10(1):11020. Ramchandar N, Ding Y, Farnaes L, Dimmock D, Hobbs C, Kingsmore SF, Bainbridge M. PMID: 32620939.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    28. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020 05 27; 12(1):48. Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, Jobanputra V, Kearney HM, Kulkarni S, Rehm H, Medical Genome Initiative . PMID: 32460895.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    29. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 09; 43(5):1024-1036. Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK. PMID: 32160317.
      View in: PubMed   Mentions: 8     Fields:    
    30. The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review. J Pediatr. 2020 05; 220:154-158.e6. Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. PMID: 32111381.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    31. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud. 2020 02; 6(1). Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. PMID: 32014857.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    32. Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices. J Gen Intern Med. 2020 01; 35(1):351-353. Neuner J, Dimmock D, Kirschner AP, Beaudry H, Paradowski J, Orlando L. PMID: 31667742.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    33. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019 11; 20(11):1007-1020. Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG, RCIGM Investigators . PMID: 31246743.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    34. Biallelic loss of GNAS in a patient with pediatric medulloblastoma. Cold Spring Harb Mol Case Stud. 2019 10; 5(5). Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ. PMID: 31624069.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    35. Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. Clin Case Rep. 2019 Nov; 7(11):2123-2127. Kadakia S, Farnaes L, Dimmock D, Chowdhury S, Ding Y, Anderson EJ, Kingsmore S, Newfield RS. PMID: 31788263.
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    36. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019 10 03; 105(4):719-733. Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D, RCIGM Investigators . PMID: 31564432.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    37. The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis. Oncogene. 2020 01; 39(1):164-175. Rabinovich S, Silberman A, Adler L, Agron S, Levin-Zaidman S, Bahat A, Porat Z, Ben-Zeev E, Geva I, Itkin M, Malitsky S, Buchaklian A, Helbling D, Dimmock D, Erez A. PMID: 31462712.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    38. Neonatal diabetes mellitus due to a novel variant in the INS gene. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). Laurenzano SE, McFall C, Nguyen L, Savla D, Coufal NG, Wright MS, Tokita M, Dimmock D, Kingsmore SF, Newfield RS. PMID: 31196892.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    39. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019 04 24; 11(489). Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. PMID: 31019026.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    40. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal Genomics , Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders Study , Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. PMID: 30849329.
      View in: PubMed   Mentions: 3     Fields:    
    41. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 02 12; 10(1):707. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. PMID: 30755602.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    42. Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. Cold Spring Harb Mol Case Stud. 2018 12; 4(6). Briggs B, James KN, Chowdhury S, Thornburg C, Farnaes L, Dimmock D, Kingsmore SF, RCIGM Investigators . PMID: 30404926.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    43. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 08; 21(8):1851-1867. Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. PMID: 30546086.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    44. A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. Cell Rep. 2018 11 06; 25(6):1469-1484.e5. Jing R, Corbett JL, Cai J, Beeson GC, Beeson CC, Chan SS, Dimmock DP, Lazcares L, Geurts AM, Lemasters JJ, Duncan SA. PMID: 30404003.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    45. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal Genomics , Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders Study , Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. PMID: 30343943.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    46. Response to Metcalfe et al. Genet Med. 2018 09; 20(9):1093. Dimmock DP. PMID: 29240079.
      View in: PubMed   Mentions:    Fields:    
    47. Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures. Cell. 2018 09 06; 174(6):1559-1570.e22. Lee JS, Adler L, Karathia H, Carmel N, Rabinovich S, Auslander N, Keshet R, Stettner N, Silberman A, Agemy L, Helbling D, Eilam R, Sun Q, Brandis A, Malitsky S, Itkin M, Weiss H, Pinto S, Kalaora S, Levy R, Barnea E, Admon A, Dimmock D, Stern-Ginossar N, Scherz A, Nagamani SCS, Unda M, Wilson DM, Elhasid R, Carracedo A, Samuels Y, Hannenhalli S, Ruppin E, Erez A. PMID: 30100185.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    48. Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities. J Neuropathol Exp Neurol. 2018 08 01; 77(8):665-672. Siebers EM, Choi MJ, Tinklenberg JA, Beatka MJ, Ayres S, Meng H, Helbling DC, Takizawa A, Bennett B, Garces AM, Dias Duarte Machado LG, Dimmock D, Dwinell MR, Geurts AM, Lawlor MW. PMID: 29850869.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    49. Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome. Pediatr Neurol. 2018 09; 86:69-70. Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ. PMID: 30107960.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    50. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018; 3:16. Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. PMID: 30002876.
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    51. Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework. Genet Med. 2019 02; 21(2):331-338. Wu RR, Myers RA, Sperber N, Voils CI, Neuner J, McCarty CA, Haller IV, Harry M, Fulda KG, Cross D, Dimmock D, Rakhra-Burris T, Buchanan AH, Ginsburg GS, Orlando LA. PMID: 29875427.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    52. Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. Cold Spring Harb Mol Case Stud. 2018 06; 4(3). Sanford E, Watkins K, Nahas S, Gottschalk M, Coufal NG, Farnaes L, Dimmock D, Kingsmore SF, RCIGM Investigators . PMID: 29437776.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    53. 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 diaphragmatic hernia, congenital heart disease, and recurrent infections. Cold Spring Harb Mol Case Stud. 2018 06; 4(3). Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF, RCIGM Investigators . PMID: 29549119.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    54. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018; 3:10. Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF. PMID: 29644095.
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    55. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab. 2018 05; 124(1):27-38. Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H, PRISM investigators . PMID: 29653686.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCTClinical Trials
    56. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. Mol Genet Metab. 2018 04; 123(4):428-432. Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. PMID: 29510902.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    57. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018; 3:6. Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF. PMID: 29449963.
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    58. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis. 2018 01; 41(1):151. Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A, Mito Working Group Member Participants . PMID: 28980269.
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    59. Response to Newman et al. Genet Med. 2017 12; 19(12). Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. PMID: 29215644.
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    60. 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. Cold Spring Harb Mol Case Stud. 2017 Sep; 3(5). Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S, RCIGM Investigators . PMID: 28550066.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    61. Should we implement population screening for fragile X? Genet Med. 2017 12; 19(12):1295-1299. Dimmock DP. PMID: 28771250.
      View in: PubMed   Mentions: 3     Fields:    
    62. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. PMID: 28749475.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    63. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis. 2017 05; 40(3):403-414. Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A, Mito Working Group Member Participants: . PMID: 28303425.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    64. Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection. Stem Cell Reports. 2017 03 14; 8(3):491-499. Mitzelfelt KA, McDermott-Roe C, Grzybowski MN, Marquez M, Kuo CT, Riedel M, Lai S, Choi MJ, Kolander KD, Helbling D, Dimmock DP, Battle MA, Jou CJ, Tristani-Firouzi M, Verbsky JW, Benjamin IJ, Geurts AM. PMID: 28238794.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    65. Presentation and Diagnostic Evaluation of Mitochondrial Disease. Pediatr Clin North Am. 2017 Feb; 64(1):161-171. Dimmock DP, Lawlor MW. PMID: 27894442.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    66. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet. 2017 Jun; 6(2):61-76. Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM, Wilk BM, Willoughby RE, Worthey EA, Dimmock DP. PMID: 28496993.
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    67. Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience. Clin Genet. 2017 01; 91(1):137-140. Bishop CL, Strong KA, Dimmock DP. PMID: 27392285.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    68. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184. Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. PMID: 27312126.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    69. Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants. J Pediatr Gastroenterol Nutr. 2016 Mar; 62(3):420-3. Sampath V, Helbling D, Menden H, Dimmock D, Mulrooney NP, Murray JC, Dagle JM, Garland JS. PMID: 26426434.
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    70. Should states adopt newborn screening for early infantile Krabbe disease? Genet Med. 2016 Mar; 18(3):217-20. Dimmock DP. PMID: 26845105.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansPHPublic Health
    71. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Mar; 92:141-151. Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP. PMID: 26773591.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    72. Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study. Implement Sci. 2015 Nov 24; 10:163. Wu RR, Myers RA, McCarty CA, Dimmock D, Farrell M, Cross D, Chinevere TD, Ginsburg GS, Orlando LA, Family Health History Network . PMID: 26597091.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCTClinical Trials
    73. Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis. Nature. 2015 Nov 19; 527(7578):379-383. Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Ulitsky I, Nagamani SC, Ruppin E, Erez A. PMID: 26560030.
      View in: PubMed   Mentions: 95     Fields:    Translation:HumansAnimalsCells
    74. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol. 2015 Jul; 33(7):689-93. Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. PMID: 26154004.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    75. SIGIRR genetic variants in premature infants with necrotizing enterocolitis. Pediatrics. 2015 Jun; 135(6):e1530-4. Sampath V, Menden H, Helbling D, Li K, Gastonguay A, Ramchandran R, Dimmock DP. PMID: 25963006.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    76. A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. J Perinatol. 2015 Feb; 35(2):155-7. Geddes GC, Dimmock DP, Hehir DA, Helbling DC, Kirkpatrick E, Loomba R, Southern J, Waknitz M, Scharer G, Konduri GG. PMID: 25627281.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    77. Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants. Pediatr Res. 2015 Mar; 77(3):477-83. Sampath V, Garland JS, Helbling D, Dimmock D, Mulrooney NP, Simpson PM, Murray JC, Dagle JM. PMID: 25518008.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    78. Ethical issues in DNA sequencing in the neonate. Clin Perinatol. 2014 Dec; 41(4):993-1000. Dimmock DP, Bick DP. PMID: 25459786.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    79. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. PMID: 25232857.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    80. Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. Pediatr Cardiol. 2014 Dec; 35(8):1474-7. Lee DD, Veith RL, Dimmock DP, Samyn MM. PMID: 25182012.
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    81. Clinical decisions. Screening an asymptomatic person for genetic risk. N Engl J Med. 2014 Jun 19; 370(25):2442-5. Burke W, Dimmock D. PMID: 24941182.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    82. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. PMID: 24759409.
      View in: PubMed   Mentions: 500     Fields:    Translation:Humans
    83. In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail. Am J Bioeth. 2014; 14(3):24-6. Strong KA, Derse AR, Dimmock DP, Zusevics KL, Jeruzal J, Worthey E, Bick D, Scharer G, La Pean Kirschner A, Spellecy R, Farrell MH, Geurts J, Veith R, May T. PMID: 24592835.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    84. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord. 2013 Oct 02; 5(1):29. Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD. PMID: 24083349.
      View in: PubMed   Mentions: 24     Fields:    
    85. Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr. 2013 Oct; 57(4):438-43. Helbling D, Buchaklian A, Wang J, Wong LJ, Dimmock D. PMID: 23783014.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    86. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group , MMS Clinical Director's Work Group , Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. PMID: 23891656.
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    87. Genomics in clinical practice: lessons from the front lines. Sci Transl Med. 2013 Jul 17; 5(194):194cm5. Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA. PMID: 23863829.
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    88. Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. Mol Genet Metab. 2013 Aug; 109(4):354-9. Lichter-Konecki U, Nadkarni V, Moudgil A, Cook N, Poeschl J, Meyer MT, Dimmock D, Baumgart S. PMID: 23791307.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    89. Whole genome sequencing: a considered approach to clinical implementation. Curr Protoc Hum Genet. 2013; Chapter 9:Unit9.22. Dimmock D. PMID: 23595600.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    90. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood. 2013 Feb 07; 121(6):877-83. Marsh RA, Rao K, Satwani P, Lehmberg K, Müller I, Li D, Kim MO, Fischer A, Latour S, Sedlacek P, Barlogis V, Hamamoto K, Kanegane H, Milanovich S, Margolis DA, Dimmock D, Casper J, Douglas DN, Amrolia PJ, Veys P, Kumar AR, Jordan MB, Bleesing JJ, Filipovich AH. PMID: 23131490.
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    91. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012 Nov; 30(11):1033-6. Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. PMID: 23138292.
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    92. A personal perspective on returning secondary results of clinical genome sequencing. Genome Med. 2012 Jun 26; 4(6):54. Dimmock D. PMID: 22734695.
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    93. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. Mol Genet Metab. 2012 Sep; 107(1-2):92-4. Buchaklian AH, Helbling D, Ware SM, Dimmock DP. PMID: 22622127.
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    94. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. PMID: 22422049.
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    95. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr. 2012 Feb; 54(2):291-4. Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D. PMID: 21681116.
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    96. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan; 14(1):135-42. Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. PMID: 22237443.
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    97. Whole exome and whole genome sequencing. Curr Opin Pediatr. 2011 Dec; 23(6):594-600. Bick D, Dimmock D. PMID: 21881504.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    98. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011 Mar; 13(3):255-62. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. PMID: 21173700.
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    99. A timely arrival for genomic medicine. Genet Med. 2011 Mar; 13(3):195-6. Mayer AN, Dimmock DP, Arca MJ, Bick DP, Verbsky JW, Worthey EA, Jacob HJ, Margolis DA. PMID: 21169843.
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    100. Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. Hum Gene Ther. 2011 Apr; 22(4):483-8. Dimmock D, Brunetti-Pierri N, Palmer DJ, Beaudet AL, Ng P. PMID: 20973621.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    101. Real-time quantitative PCR analysis of mitochondrial DNA content. Curr Protoc Hum Genet. 2011 Jan; Chapter 19:Unit 19.7.. Venegas V, Wang J, Dimmock D, Wong LJ. PMID: 21234878.
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    102. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem. 2010 Jul; 56(7):1119-27. Dimmock D, Tang LY, Schmitt ES, Wong LJ. PMID: 20448188.
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    103. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 2010 Mar; 10(2):188-91. Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. PMID: 19900589.
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    104. Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations. Neuromuscul Disord. 2009 Nov; 19(11):784-7. Collins J, Bove KE, Dimmock D, Morehart P, Wong LJ, Wong B. PMID: 19736010.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    105. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):341. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 19694025.
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    106. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):342. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 19694026.
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    107. De novo mutations in POLG presenting with acute liver failure or encephalopathy. J Pediatr Gastroenterol Nutr. 2009 Jul; 49(1):126-9. Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJ. PMID: 19252446.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    108. Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 2009 Jan; 96(1):44-9. Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. PMID: 19036621.
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    109. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. . 2008 Nov 15; 146A(22):2885-90. Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 18925679.
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    110. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008 Oct; 14(10):1480-5. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. PMID: 18825706.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    111. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 2008 Jul; 54(7):1141-8. Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. PMID: 18487280.
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