David Dimmock

Title(s)Associate Physician, Herbert Wertheim School of Public Health & Human Longevity Science
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. Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ Genom Med. 2024 Feb 26; 9(1):15. Wigby KM, Brockman D, Costain G, Hale C, Taylor SL, Belmont J, Bick D, Dimmock D, Fernbach S, Greally J, Jobanputra V, Kulkarni S, Spiteri E, Taft RJ. PMID: 38409289; PMCID: PMC10897481.
      View in: PubMed   Mentions:
    2. Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting. Front Pediatr. 2024; 12:1349519. Thompson L, Larson A, Salz L, Veith R, Tsai JP, Jayakar A, Chapman R, Gupta A, Kingsmore SF, Dimmock D, Bedrick A, Galindo MK, Casas K, Mohamed M, Straight L, Khan MA, Salyakina D. PMID: 38440187; PMCID: PMC10909823.
      View in: PubMed   Mentions:
    3. Correction to: The evolution of the mitochondrial disease diagnostic odyssey. Orphanet J Rare Dis. 2023 Jul 20; 18(1):194. Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. PMID: 37474973; PMCID: PMC10360231.
      View in: PubMed   Mentions:    Fields:    
    4. Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining. Clin Ther. 2023 08; 45(8):736-744. Cakici JA, Dimmock D, Caylor S, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS. PMID: 37429778.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. The evolution of the mitochondrial disease diagnostic odyssey. Orphanet J Rare Dis. 2023 Jun 22; 18(1):157. Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. PMID: 37349818; PMCID: PMC10288668.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Response to Grosse et al. Am J Hum Genet. 2023 Jun 01; 110(6):1017. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 37267897; PMCID: PMC10256999.
      View in: PubMed   Mentions:    Fields:    
    7. Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome. N Engl J Med. 2023 Jun 15; 388(24):2241-2252. Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L. PMID: 37256972; PMCID: PMC10392571.
      View in: PubMed   Mentions: 7     Fields:    
    8. Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria. J Pediatr. 2023 09; 260:113526. Grant ML, Jurecki ER, McCandless SE, Stahl SM, Bilder DA, Sanchez-Valle A, Dimmock D. PMID: 37263523.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system. Front Pediatr. 2023; 11:1157630. Allred ET, Perens EA, Coufal NG, Sanford Kobayashi E, Kingsmore SF, Dimmock DP. PMID: 36999085; PMCID: PMC10043482.
      View in: PubMed   Mentions: 1  
    10. Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration. Hum Gene Ther. 2023 02; 34(3-4):94-111. Chen X, Lim DA, Lawlor MW, Dimmock D, Vite CH, Lester T, Tavakkoli F, Sadhu C, Prasad S, Gray SJ. PMID: 36606687.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    11. The Genomic landscape of short tandem repeats across multiple ancestries. PLoS One. 2023; 18(1):e0279430. Vijayaraghavan P, Batalov S, Ding Y, Sanford E, Kingsmore SF, Dimmock D, Hobbs C, Bainbridge M. PMID: 36701310; PMCID: PMC9879404.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    12. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. Am J Med Genet A. 2023 04; 191(4):930-940. Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. PMID: 36651673.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies. J Pediatr. 2023 06; 257:113323. Bruno L, Lenberg J, Le D, Dimmock D, Thornburg CD, Briggs B. PMID: 36646249.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer. Children (Basel). 2023 Jan 04; 10(1). Bupp CP, Ames EG, Arenchild MK, Caylor S, Dimmock DP, Fakhoury JD, Karna P, Lehman A, Meghea CI, Misra V, Nolan DA, O'Shea J, Sharangpani A, Franck LS, Scheurer-Monaghan A. PMID: 36670656.
      View in: PubMed   Mentions: 7  
    15. Rapid genome sequencing identifies novel variants in complement factor I. Cold Spring Harb Mol Case Stud. 2022 12; 8(7). Rodriguez KM, Vaught J, Dilley M, Ellsworth K, Heinen A, Abud EM, Zhang Y, Smith RJH, Sheets R, Geng B, Hoffman HM, Worthen HM, Dimmock D, Coufal NG. PMID: 36577522; PMCID: PMC9808552.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities. BMC Health Serv Res. 2022 Dec 06; 22(1):1486. Wu RR, Myers RA, Neuner J, McCarty C, Haller IV, Harry M, Fulda KG, Dimmock D, Rakhra-Burris T, Buchanan A, Ginsburg GS, Orlando LA. PMID: 36474257.
      View in: PubMed   Mentions: 2     Fields:    
    17. Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches. Hum Gene Ther. 2022 Nov 01. Prasad S, Dimmock DP, Greenberg B, Walia JS, Sadhu C, Tavakkoli F, Lipshutz GS. PMID: 35994385.
      View in: PubMed   Mentions: 7     Fields:    
    18. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet. 2022 09 01; 109(9):1605-1619. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 36007526; PMCID: PMC9502059.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansPHPublic Health
    19. Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure. Liver Transpl. 2023 01 01; 29(1):118-121. Thompson WS, Greenmyer JR, Lanpher BC, Brumbaugh JE, Bendel-Stenzel EM, Dimmock DP, Hobbs CA, Ibrahim SH, Hildreth AN. PMID: 35861277.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057. Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    21. Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission. Nature. 2022 09; 609(7925):101-108. Karthikeyan S, Levy JI, De Hoff P, Humphrey G, Birmingham A, Jepsen K, Farmer S, Tubb HM, Valles T, Tribelhorn CE, Tsai R, Aigner S, Sathe S, Moshiri N, Henson B, Mark AM, Hakim A, Baer NA, Barber T, Belda-Ferre P, Chacón M, Cheung W, Cresini ES, Eisner ER, Lastrella AL, Lawrence ES, Marotz CA, Ngo TT, Ostrander T, Plascencia A, Salido RA, Seaver P, Smoot EW, McDonald D, Neuhard RM, Scioscia AL, Satterlund AM, Simmons EH, Abelman DB, Brenner D, Bruner JC, Buckley A, Ellison M, Gattas J, Gonias SL, Hale M, Hawkins F, Ikeda L, Jhaveri H, Johnson T, Kellen V, Kremer B, Matthews G, McLawhon RW, Ouillet P, Park D, Pradenas A, Reed S, Riggs L, Sanders A, Sollenberger B, Song A, White B, Winbush T, Aceves CM, Anderson C, Gangavarapu K, Hufbauer E, Kurzban E, Lee J, Matteson NL, Parker E, Perkins SA, Ramesh KS, Robles-Sikisaka R, Schwab MA, Spencer E, Wohl S, Nicholson L, McHardy IH, Dimmock DP, Hobbs CA, Bakhtar O, Harding A, Mendoza A, Bolze A, Becker D, Cirulli ET, Isaksson M, Schiabor Barrett KM, Washington NL, Malone JD, Schafer AM, Gurfield N, Stous S, Fielding-Miller R, Garfein RS, Gaines T, Anderson C, Martin NK, Schooley R, Austin B, MacCannell DR, Kingsmore SF, Lee W, Shah S, McDonald E, Yu AT, Zeller M, Fisch KM, Longhurst C, Maysent P, Pride D, Khosla PK, Laurent LC, Yeo GW, Andersen KG, Knight R. PMID: 35798029; PMCID: PMC9433318.
      View in: PubMed   Mentions: 105     Fields:    Translation:HumansCellsPHPublic Health
    22. Better and faster is cheaper. Hum Mutat. 2022 11; 43(11):1495-1506. Sanford Kobayashi EF, Dimmock DP. PMID: 35723630.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    23. Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission. medRxiv. 2022 Apr 04. Karthikeyan S, Levy JI, De Hoff P, Humphrey G, Birmingham A, Jepsen K, Farmer S, Tubb HM, Valles T, Tribelhorn CE, Tsai R, Aigner S, Sathe S, Moshiri N, Henson B, Mark AM, Hakim A, Baer NA, Barber T, Belda-Ferre P, Chacón M, Cheung W, Cresini ES, Eisner ER, Lastrella AL, Lawrence ES, Marotz CA, Ngo TT, Ostrander T, Plascencia A, Salido RA, Seaver P, Smoot EW, McDonald D, Neuhard RM, Scioscia AL, Satterlund AM, Simmons EH, Abelman DB, Brenner D, Bruner JC, Buckley A, Ellison M, Gattas J, Gonias SL, Hale M, Hawkins F, Ikeda L, Jhaveri H, Johnson T, Kellen V, Kremer B, Matthews G, McLawhon RW, Ouillet P, Park D, Pradenas A, Reed S, Riggs L, Sanders A, Sollenberger B, Song A, White B, Winbush T, Aceves CM, Anderson C, Gangavarapu K, Hufbauer E, Kurzban E, Lee J, Matteson NL, Parker E, Perkins SA, Ramesh KS, Robles-Sikisaka R, Schwab MA, Spencer E, Wohl S, Nicholson L, Mchardy IH, Dimmock DP, Hobbs CA, Bakhtar O, Harding A, Mendoza A, Bolze A, Becker D, Cirulli ET, Isaksson M, Barrett KMS, Washington NL, Malone JD, Schafer AM, Gurfield N, Stous S, Fielding-Miller R, Garfein RS, Gaines T, Anderson C, Martin NK, Schooley R, Austin B, MacCannell DR, Kingsmore SF, Lee W, Shah S, McDonald E, Yu AT, Zeller M, Fisch KM, Longhurst C, Maysent P, Pride D, Khosla PK, Laurent LC, Yeo GW, Andersen KG, Knight R. PMID: 35411350; PMCID: PMC8996633.
      View in: PubMed   Mentions:
    24. Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care. Children (Basel). 2022 Mar 04; 9(3). Franck LS, Scheurer-Monaghan A, Bupp CP, Fakhoury JD, Hoffmann TJ, Deshpandey M, Arenchild M, Dimmock DP. PMID: 35327729; PMCID: PMC8947383.
      View in: PubMed   Mentions: 1  
    25. Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results. Prenat Diagn. 2022 05; 42(6):705-716. Zhang-Rutledge K, Owen M, Sweeney NM, Dimmock D, Kingsmore SF, Laurent LC. PMID: 35141907; PMCID: PMC9886440.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    26. Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit. Front Pediatr. 2021; 9:809536. Sanford Kobayashi E, Waldman B, Engorn BM, Perofsky K, Allred E, Briggs B, Gatcliffe C, Ramchandar N, Gold JJ, Doshi A, Ingulli EG, Thornburg CD, Benson W, Farnaes L, Chowdhury S, Rego S, Hobbs C, Kingsmore SF, Dimmock DP, Coufal NG. PMID: 35141181; PMCID: PMC8818891.
      View in: PubMed   Mentions: 11  
    27. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 03; 43(3):305-315. Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. PMID: 35026043; PMCID: PMC8863643.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    28. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226. NICUSeq Study Group, Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. PMID: 34570182; PMCID: PMC8477301.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    29. Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A. 2022 03; 188(3):768-778. Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N, Nguyen-Driver M, Jurecki E, Merilainen M, Amato G, Waisbren S. PMID: 34826353; PMCID: PMC9299696.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    30. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Ann Clin Transl Neurol. 2021 11; 8(11):2155-2165. Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. PMID: 34662929; PMCID: PMC8607453.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    31. Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation. J Pediatr. 2021 11; 238:343. Franck LS, Dimmock D, Hobbs C, Kingsmore SF. PMID: 34390697; PMCID: PMC10865930.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    32. Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. J Clin Transl Sci. 2021; 5(1):e177. Malone Jenkins S, Palmquist R, Kapron AL, Torr C, Best DH, Karren MA, Brunelli L, Yandell M, Tristani-Firouzi M, Dimmock D, Watts B, Botkin JR, Johnson A, Bonkowsky JL. PMID: 34849253; PMCID: PMC8596074.
      View in: PubMed   Mentions: 1  
    33. 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; PMCID: PMC8314938.
      View in: PubMed   Mentions: 8  
    34. 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; PMCID: PMC8322922.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    35. 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: 29     Fields:    Translation:Humans
    36. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Mol Genet Genomic Med. 2021 07; 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; PMCID: PMC8372079.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    37. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med. 2021 09; 23(9):1604-1615. 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; PMCID: PMC8463480.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    38. 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; PMCID: PMC8155005.
      View in: PubMed   Mentions: 1  
    39. 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; PMCID: PMC8155217.
      View in: PubMed   Mentions: 1  
    40. Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption. J Pediatr. 2021 10; 237:237-243.e2. Franck LS, Kriz RM, Rego S, Garman K, Hobbs C, Dimmock D. PMID: 34023348.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    41. 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 05 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; PMCID: PMC7885094.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    42. 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; PMCID: PMC8062477.
      View in: PubMed   Mentions: 17  
    43. Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation. J Clin Immunol. 2021 08; 41(6):1241-1249. Kuehn HS, Gloude NJ, Dimmock D, Tokita M, Wright M, Rosenzweig SD, Collins C. PMID: 33855675.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCellsPHPublic HealthCTClinical Trials
    44. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    45. 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; PMCID: PMC8180245.
      View in: PubMed   Mentions: 12  
    46. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    47. 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; PMCID: PMC7986124.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    48. 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; PMCID: PMC7738524.
      View in: PubMed   Mentions: 21  
    49. 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: 1     Fields:    Translation:Humans
    50. At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care. BMC Health Serv Res. 2020 Nov 07; 20(1):1015. Orlando LA, Wu RR, Myers RA, Neuner J, McCarty C, Haller IV, Harry M, Fulda KG, Dimmock D, Rakhra-Burris T, Buchanan A, Ginsburg GS. PMID: 33160339; PMCID: PMC7648301.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    51. 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; PMCID: PMC7675003.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    52. 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; PMCID: PMC7675004.
      View in: PubMed   Mentions: 59     Fields:    Translation:Humans
    53. 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; PMCID: PMC7608690.
      View in: PubMed   Mentions: 15  
    54. 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; PMCID: PMC7746601.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    55. 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; PMCID: PMC7585436.
      View in: PubMed   Mentions: 37  
    56. 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; PMCID: PMC7718387.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    57. 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; PMCID: PMC7552926.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    58. 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: 4     Fields:    Translation:Humans
    59. 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; PMCID: PMC7335102.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    60. 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; PMCID: PMC7254704.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    61. 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; PMCID: PMC7484123.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    62. 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: 2     Fields:    Translation:HumansPHPublic Health
    63. 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; PMCID: PMC6996516.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    64. 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; PMCID: PMC6957625.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansPHPublic Health
    65. 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; PMCID: PMC6832787.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    66. 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; PMCID: PMC6824258.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    67. 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; PMCID: PMC6878034.
      View in: PubMed   Mentions: 3  
    68. 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; PMCID: PMC6817534.
      View in: PubMed   Mentions: 140     Fields:    Translation:Humans
    69. 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: 9     Fields:    Translation:HumansCells
    70. 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; PMCID: PMC6672029.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    71. 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; PMCID: PMC9512059.
      View in: PubMed   Mentions: 102     Fields:    Translation:Humans
    72. Effect of Sociodemographic Factors on Uptake of a Patient-Facing Information Technology Family Health History Risk Assessment Platform. Appl Clin Inform. 2019 03; 10(2):180-188. Wu RR, Myers RA, Buchanan AH, Dimmock D, Fulda KG, Haller IV, Haga SB, Harry ML, McCarty C, Neuner J, Rakhra-Burris T, Sperber N, Voils CI, Ginsburg GS, Orlando LA. PMID: 30866001; PMCID: PMC6415985.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    73. 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; PMCID: PMC6407522.
      View in: PubMed   Mentions: 3     Fields:    
    74. 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; PMCID: PMC6372641.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    75. 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; PMCID: PMC6318776.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    76. 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; PMCID: PMC6752676.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    77. 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; PMCID: PMC6289059.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    78. 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; PMCID: PMC6216110.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    79. Response to Metcalfe et al. Genet Med. 2018 09; 20(9):1093. Dimmock DP. PMID: 29240079.
      View in: PubMed   Mentions:    Fields:    
    80. 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; PMCID: PMC6225773.
      View in: PubMed   Mentions: 108     Fields:    Translation:HumansAnimalsCells
    81. 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; PMCID: PMC6044411.
      View in: PubMed   Mentions: 5     Fields:    Translation:Animals
    82. 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; PMCID: PMC6824418.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    83. 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; PMCID: PMC6037748.
      View in: PubMed   Mentions: 222  
    84. 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; PMCID: PMC6281814.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    85. 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; PMCID: PMC5983174.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    86. 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; PMCID: PMC5983173.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    87. 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; PMCID: PMC5884823.
      View in: PubMed   Mentions: 177  
    88. 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: 58     Fields:    Translation:HumansCTClinical Trials
    89. 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: 13     Fields:    Translation:Humans
    90. 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; PMCID: PMC5807510.
      View in: PubMed   Mentions: 89  
    91. 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; PMCID: PMC7790127.
      View in: PubMed   Mentions: 1     Fields:    
    92. The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol. 2017 Nov 22; 17(1):202. Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S. PMID: 29166883; PMCID: PMC5700516.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    93. 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; PMCID: PMC7787267.
      View in: PubMed   Mentions:    Fields:    
    94. 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; PMCID: PMC5593156.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    95. 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:    
    96. 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; PMCID: PMC7804217.
      View in: PubMed   Mentions: 100     Fields:    Translation:Humans
    97. 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; PMCID: PMC7783474.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    98. 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; PMCID: PMC5355643.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    99. Presentation and Diagnostic Evaluation of Mitochondrial Disease. Pediatr Clin North Am. 2017 Feb; 64(1):161-171. Dimmock DP, Lawlor MW. PMID: 27894442; PMCID: PMC5130109.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    100. 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; PMCID: PMC5423809.
      View in: PubMed   Mentions: 42  
    101. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 04; 54(4):288-296. Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. PMID: 27834756; PMCID: PMC5502308.
      View in: PubMed   Mentions: 130     Fields:    Translation:HumansCellsCTClinical Trials
    102. 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: 16     Fields:    Translation:Humans
    103. 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: 22     Fields:    Translation:Humans
    104. 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; PMCID: PMC5055643.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    105. 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: 4     Fields:    Translation:HumansPHPublic Health
    106. 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; PMCID: PMC5047058.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    107. 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; PMCID: PMC4657284.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    108. 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; PMCID: PMC4655447.
      View in: PubMed   Mentions: 181     Fields:    Translation:HumansAnimalsCells
    109. 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; PMCID: PMC6504172.
      View in: PubMed   Mentions: 63     Fields:    Translation:Humans
    110. 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; PMCID: PMC4444800.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    111. 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
    112. 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; PMCID: PMC4522928.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    113. 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: 2     Fields:    Translation:HumansPHPublic Health
    114. 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: 10     Fields:    Translation:HumansCTClinical Trials
    115. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    116. 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: 5     Fields:    Translation:Humans
    117. 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; PMCID: PMC4180223.
      View in: PubMed   Mentions: 634     Fields:    Translation:Humans
    118. 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
    119. 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; PMCID: PMC3851280.
      View in: PubMed   Mentions: 30     Fields:    
    120. 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; PMCID: PMC4966813.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    121. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    122. 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.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    123. 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: 12     Fields:    Translation:Humans
    124. 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: 3     Fields:    Translation:Humans
    125. 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; PMCID: PMC5162550.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    126. 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; PMCID: PMC3827024.
      View in: PubMed   Mentions: 186     Fields:    
    127. A personal perspective on returning secondary results of clinical genome sequencing. Genome Med. 2012 Jun 26; 4(6):54. Dimmock D. PMID: 22734695; PMCID: PMC3698529.
      View in: PubMed   Mentions: 5     Fields:    
    128. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    129. 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; PMCID: PMC3763716.
      View in: PubMed   Mentions: 90     Fields:    Translation:Humans
    130. 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.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    131. 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; PMCID: PMC3711224.
      View in: PubMed   Mentions: 105     Fields:    Translation:HumansCells
    132. 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: 54     Fields:    Translation:Humans
    133. 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.
      View in: PubMed   Mentions: 318     Fields:    Translation:HumansCells
    134. 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.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    135. 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; PMCID: PMC3073075.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    136. 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.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansCells
    137. 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.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    138. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    139. 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: 6     Fields:    Translation:Humans
    140. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    141. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    142. 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
    143. 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.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    144. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet A. 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; PMCID: PMC2597641.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansPHPublic Health
    145. 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: 28     Fields:    Translation:Humans
    146. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    147. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. PMID: 18205204.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    148. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7. Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. PMID: 17332192.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
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