3020 Children's Way
San Diego, CA 92123
Rady Children's Specialists of San Diego
Santa Clara Valley Hospital
Harvard Medical School
Massachusetts General Hospital
Dr. Friedman is an expert in adult and pediatric movement disorders and has particular interest in genetic and metabolic disorders that affect movement. She directs the Movement Disorders and Tourette/Tic Disorder Clinics at Rady Children's Hospital and does research in the areas of neurogenetics, Tourette's Syndrome and disability awareness education. In addition, she teaches medical students residents, fellows, and undergraduate students.
Dr. Friedman received her undergraduate training at Princeton University and earned her MD from Stanford University in 1991. She completed an internship in internal medicine at Santa Clara Valley Medical Center followed by residency in neurology at Harvard Longwood Training Program. She was a clinical fellow in movement disorders at Boston University Medical Center and a clinical and research fellow in neurogenetics and dystonia at Massachusetts General Hospital.
She served as a neurologist at several Boston hospitals and was an instructor in neurology at Harvard Medical School before joining Rady Children's Hospital in San Diego as senior staff neurologist in 2004.
Dr. Friedman also serves as clinical professor in the UC San Diego Departments of Neurosciences and Pediatrics. Dr. Friedman is a diplomate of the American Board of Psychiatry and Neurology. She is a member of the American Academy of Neurology, the Movement Disorder Society, the Tourette Syndrome Association, and the Phi Beta Kappa National Honor Society.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.
Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ
Low CSF 5-HIAA in Myoclonus Dystonia.
Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.
Raskind WH, Friedman JR, Roze E, Méneret A, Chen DH, Bird TD
Toward clinical genomics in everyday medicine: perspectives and recommendations.
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 JR, 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
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Friedman JR, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Chen DH, Méneret A, Friedman JR, 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
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
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 JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB
A genome sequencing program for novel undiagnosed diseases.
Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A
De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ, Friedman JR, 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
An unusual presentation of posterior fossa ependymoma in a child.
Crawford JR, Newbury RO, Friedman JR
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR
Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes.
Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman AJ, Gewirtz H
See the full listing of this physician's publications on PubMed, a service of the National Library of Medicine.
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