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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. 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 Feb 15; e205906. PMID: 33587123.
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    2. The Nucleotide Prodrug CERC-913 Improves mtDNA Content in Primary Hepatocytes from DGUOK-Deficient Rats. J Inherit Metab Dis. 2020 Dec 25. Vanden Avond M, Meng H, Beatka M, Helbling DC, Prom M, Sutton JL, Slick RA, Dimmock D, Pertusati F, Serpi M, Pileggi E, Crutcher P, Thomas S, Lawlor MW. PMID: 33368311.
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    3. An online compendium of treatable genetic disorders. Am J Med Genet C Semin Med Genet. 2020 Dec 22. Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH. PMID: 33350578.
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    4. 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. PMID: 33319814.
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    5. Metagenomic Sequencing and Evaluation of the Host Response in the Pediatric Aerodigestive Population. Pediatr Pulmonol. 2020 Dec 03. Gatcliffe C, Rao A, Brigger M, Dimmock D, Hansen C, Montgomery J, Schlaberg R, Coufal NG, Farnaes L. PMID: 33270378.
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    6. 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. PMID: 33157007.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. 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: 1     Fields:    Translation:Humans
    8. 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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    9. 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. PMID: 33110627.
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    10. Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma. Cancer Res. 2020 Dec 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.
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    11. 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.
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    12. Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease. Circ Genom Precis Med. 2020 Oct; 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.
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    13. 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
    14. 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. PMID: 32460895.
      View in: PubMed   Mentions: 4     Fields:    
    15. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 Sep; 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: 4     Fields:    
    16. 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
    17. 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: 1     Fields:    
    18. 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.
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    19. 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. PMID: 31246743.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    20. 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
    21. 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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    22. 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. PMID: 31564432.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    23. 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: 1     Fields:    Translation:HumansCells
    24. 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
    25. 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: 29     Fields:    Translation:Humans
    26. 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, 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, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. PMID: 30849329.
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    27. 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: 7     Fields:    Translation:HumansCells
    28. 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. PMID: 30404926.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    29. 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: 10     Fields:    Translation:Humans
    30. 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: 10     Fields:    Translation:HumansAnimalsCells
    31. 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, 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, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. PMID: 30343943.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    32. Response to Metcalfe et al. Genet Med. 2018 09; 20(9):1093. Dimmock DP. PMID: 29240079.
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    33. 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: 12     Fields:    Translation:HumansAnimalsCells
    34. 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
    35. 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
    36. 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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    37. 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: 5     Fields:    Translation:Humans
    38. 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. PMID: 29437776.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    39. 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). PMID: 29549119.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    40. 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.
      View in: PubMed   Mentions:
    41. 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. PMID: 29653686.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCTClinical Trials
    42. 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: 1     Fields:    Translation:Humans
    43. 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.
      View in: PubMed   Mentions:
    44. 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. PMID: 28980269.
      View in: PubMed   Mentions:
    45. 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.
      View in: PubMed   Mentions:    Fields:    
    46. 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). PMID: 28550066.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    47. Should we implement population screening for fragile X? Genet Med. 2017 12; 19(12):1295-1299. PMID: 28771250.
      View in: PubMed   Mentions: 1     Fields:    
    48. 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: 35     Fields:    Translation:Humans
    49. 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. PMID: 28303425.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    50. 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: 8     Fields:    Translation:HumansCells
    51. Presentation and Diagnostic Evaluation of Mitochondrial Disease. Pediatr Clin North Am. 2017 Feb; 64(1):161-171. PMID: 27894442.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    52. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet. 2017 Jun; 6(2):61-76. PMID: 28496993.
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    53. 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: 2     Fields:    Translation:Humans
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