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Jennifer Friedman

TitleAssistant Clinical Professor
InstitutionUniversity of California San Diego
DepartmentPediatrics
Address9500 Gilman Drive #0984
La Jolla CA 92093
Phone858-966-5819
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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.
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    1. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 Nov 28; 89(22):2297-2298. PMID: 29093066.
      View in: PubMed
    2. Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman J, Kurian MA. Low CSF 5-HIAA in Myoclonus Dystonia. Mov Disord. 2017 Nov; 32(11):1647-1649. PMID: 28949039.
      View in: PubMed
    3. Raskind WH, Friedman J, Roze E, Méneret A, Chen DH, Bird TD. ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity. Mov Disord. 2017 Feb; 32(2):305-306. PMID: 27933653.
      View in: PubMed
    4. Friedman J. What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. Pediatr Neurol. 2016 06; 59:76-80. PMID: 27080360.
      View in: PubMed
    5. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman J, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. PMID: 26810587; PMCID: PMC4841021.
    6. Friedman J, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord. 2016 Jan; 31(1):147-8. PMID: 26686870; PMCID: PMC4724296 [Available on 01/01/17].
    7. Chen DH, Méneret A, Friedman J, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 08; 85(23):2026-35. PMID: 26537056.
      View in: PubMed
    8. Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman J, Sokunbi MA, Dixit A, Splitt M. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May; 24(5):652-9. PMID: 26306646; PMCID: PMC4930086 [Available on 05/01/17].
    9. Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman J, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. A genome sequencing program for novel undiagnosed diseases. Genet Med. 2015 Dec; 17(12):995-1001. PMID: 25790160; PMCID: PMC4575596.
    10. Torkamani A, Bersell K, Jorge BS, Bjork RL, Friedman J, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct; 76(4):529-540. PMID: 25164438; PMCID: PMC4192091.
    11. Chen YZ, Friedman J, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr; 75(4):542-9. PMID: 24700542; PMCID: PMC4457323.
    12. Crawford JR, Newbury RO, Friedman J. An unusual presentation of posterior fossa ependymoma in a child. BMJ Case Rep. 2013 Jul 05; 2013. PMID: 23833093; PMCID: PMC3736280.
    13. Friedman J, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 Feb; 21(2):241-5. PMID: 16149086.
      View in: PubMed
    14. Tawakol A, Sims K, MacRae C, Friedman J, Alpert NM, Fischman AJ, Gewirtz H. Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes. Coron Artery Dis. 2003 May; 14(3):197-205. PMID: 12702922.
      View in: PubMed
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