Jennifer Friedman

Title(s)Clinical Professor, Neurosciences
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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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. ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature. J Med Genet. 2025 Dec 21. Lesieur-Sebellin M, Wigby K, Wigby K, Schaefer E, Gouronc A, Chatron N, Poulat AL, Putoux A, Goldenberg A, Quibeuf M, Chambon P, Rondeau S, Barcia G, Levy J, Piard J, Kuentz P, Doco-Fenzy M, Bednarek N, Caumes R, Bouquillon S, Le Caignec C, Patat O, Khau Van Kien P, Chiesa J, Delplancq G, Bacrot S, Brisset S, Ginglinger E, Cantagrel V, Lenberg J, Friedman JR, Rio M, Scheidecker S, Malan V. PMID: 41062261.
      View in: PubMed   Mentions:    Fields:    
    2. A fin-loop-like structure in GPX4 underlies neuroprotection from ferroptosis. Cell. 2026 Jan 08; 189(1):287-306.e35. Lorenz SM, Wahida A, Bostock MJ, Seibt T, Santos Dias Mourão A, Levkina A, Trümbach D, Soudy M, Emler D, Rothammer N, Woo MS, Sonner JK, Novikova M, Henkelmann B, Aldrovandi M, Kaemena DF, Mishima E, Vermonden P, Zong Z, Chen D, Nakamura T, Ito J, Doll S, Proneth B, Bürkle E, Rizzollo F, Escamilla Ayala A, Napolitano V, Kolonko-Adamska M, Gaussmann S, Merl-Pham J, Hauck S, Pertek A, Orschmann T, van San E, Vanden Berghe T, Hass D, Maida A, Frenz JM, Pedrera L, Dolga A, Kraiger M, Hrabé de Angelis M, Fuchs H, Ebert G, Lenberg J, Friedman J, Scale C, Agostinis P, Zimprich A, Vogt-Weisenhorn D, Garrett L, Hölter SM, Wurst W, Glaab E, Lewerenz J, Popper B, Sieben C, Steinacker P, Zischka H, Garcia-Saez AJ, Tietze A, Ramesh SK, Ayton S, Vincendeau M, Friese MA, Wigby K, Wigby K, Sattler M, Mann M, Ingold I, Jayavelu AK, Popowicz GM, Conrad M. PMID: 41349546.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    3. Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease. Am J Med Genet A. 2026 04; 200(4):918-922. Wagner NE, AlAshwal SM, Lenberg J, Bird LM, Ceulemans S, Friedman J, Borooah S. PMID: 41293997.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes. HGG Adv. 2026 Jan 15; 7(1):100539. Fischer MC, Reis LM, Lenberg J, Friedman J, Seese SE, Muheisen S, Writzl K, Golob B, Peterlin B, Semina EV. PMID: 41139957; PMCID: PMC12648955.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    5. Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803. Clin Genet. 2025 11; 108(5):553-565. Sjøstrøm E, Studniarczyk D, Dou X, Dahl RS, Cruz V, Wang H, Mercier S, Deb W, Besnard T, Friedman J, Essid M, Karoui S, Jemaa LB, Benyounes T, Lesca G, Tonduti D, Iascone M, Orcesi S, Fradin M, Dubourg C, Napuri S, Cull-Candy SG, Coombs ID, Farrant M, Bayat A. PMID: 40391499; PMCID: PMC12501675.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    6. Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 05 01; 112(5):975-983. Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC, N=1 Collaborative. PMID: 40139194; PMCID: PMC12120168.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    7. Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants. Ann Clin Transl Neurol. 2025 03; 12(3):602-614. McCarty RM, Saade D, Munot P, Laverty CG, Pinz H, Zou Y, McAnally M, Yun P, Tian C, Hu Y, Feng L, Phadke R, Ceulemans S, Magoulas P, Skalsky AJ, Friedman JR, Braddock SR, Neuhaus SB, Malicki DM, Bainbridge MN, Nahas S, Dimmock DP, Kingsmore SF, Lotze TE, Foley AR, Muntoni F, Straub V, Donkervoort S, Bönnemann CG. PMID: 39923201; PMCID: PMC11920742.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations. Brain Commun. 2024; 6(6):fcae377. Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. PMID: 39502942; PMCID: PMC11535570.
      View in: PubMed   Mentions: 2  
    9. Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies. Clin Genet. 2025 01; 107(1):91-97. Stehr AM, Lenberg J, Friedman J, Dobbelaere D, Imbard A, Levy J, Donoghue S, Derive N, Stoeva R, Gueguen P, Zech M. PMID: 39367743; PMCID: PMC11608835.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    10. The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder. Pediatr Neurol. 2024 Dec; 161:188-193. Barbour K, Bainbridge MN, Wigby K, Wigby K, Besterman AD, Chuang NA, Tobin LE, Del Campo M, Lenberg J, Bird LM, Friedman J. PMID: 39423747.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    11. Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders. Mov Disord. 2024 Sep; 39(9):1446-1467. Couto B, Galosi S, Steel D, Kurian MA, Friedman J, Gorodetsky C, Lang AE. PMID: 39119747.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 08; 142(4):108509. Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. PMID: 38959600; PMCID: PMC11299528.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    13. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024 07 11; 111(7):1330-1351. Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. PMID: 38815585; PMCID: PMC11267526.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    14. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024 May 03; 147(5):1837-1855. Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. PMID: 38038360; PMCID: PMC11068105.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    15. The wisdom of our mentors: clinical pearls in movement disorders. Lancet Neurol. 2023 12; 22(12):1108-1109. Araújo R, Fearon C, Balint B, Bressman S, Friedman J, Jinnah HA, Tijssen MAJ, Lang A, Lees A, Lynch T, Quinn N, Thomson P, Vidailhet M, van de Warrenburg BP, Fung VSC, Bloem BR. PMID: 37977708.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences. Pediatr Neurol. 2024 Mar; 152:177-183. Baumer FM, Julich K, Friedman J, Nespeca M, Thiele EA, Bhatia S, Joshi C. PMID: 38295719; PMCID: PMC10936539.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    17. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. PMID: 37185208; PMCID: PMC10579487.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    18. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762. 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, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. PMID: 35295849; PMCID: PMC8918504.
      View in: PubMed   Mentions: 14  
    19. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. Parkinsonism Relat Disord. 2019 11; 68:8-16. Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. PMID: 31621627.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    20. 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
    21. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. PMID: 29093066; PMCID: PMC5705245.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    22. Low CSF 5-HIAA in Myoclonus Dystonia. Mov Disord. 2017 11; 32(11):1647-1649. Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA. PMID: 28949039; PMCID: PMC5796435.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    23. ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity. Mov Disord. 2017 02; 32(2):305-306. Raskind WH, Friedman JR, Roze E, Méneret A, Chen DH, Bird TD. PMID: 27933653; PMCID: PMC5318268.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    24. What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. Pediatr Neurol. 2016 06; 59:76-80. Friedman JR. PMID: 27080360.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    25. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. 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. PMID: 26810587; PMCID: PMC4841021.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    26. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord. 2016 Jan; 31(1):147-8. Friedman JR, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E. PMID: 26686870; PMCID: PMC4724296.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    27. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 08; 85(23):2026-35. 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. PMID: 26537056; PMCID: PMC4676753.
      View in: PubMed   Mentions: 59     Fields:    Translation:Humans
    28. 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. 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. PMID: 26306646; PMCID: PMC4930086.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansCells
    29. A genome sequencing program for novel undiagnosed diseases. Genet Med. 2015 Dec; 17(12):995-1001. 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. PMID: 25790160; PMCID: PMC4575596.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    30. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct; 76(4):529-540. Torkamani A, Bersell K, Jorge BS, Bjork RL, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL, Kearney JA. PMID: 25164438; PMCID: PMC4192091.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    31. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr; 75(4):542-9. 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. PMID: 24700542; PMCID: PMC4457323.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansCells
    32. An unusual presentation of posterior fossa ependymoma in a child. BMJ Case Rep. 2013 Jul 05; 2013. Crawford JR, Newbury RO, Friedman JR. PMID: 23833093; PMCID: PMC3736280.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    33. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 Feb; 21(2):241-5. Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. PMID: 16149086.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    34. 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. Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman AJ, Gewirtz H. PMID: 12702922.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    35. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology. 2000 Nov 14; 55(9):1417-8. Friedman JR, Klein C, Leung J, Woodward H, Ozelius LJ, Breakefield XO, Charness ME. PMID: 11087801.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
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