Naghmeh Dorrani

Title(s)HS Associate Clinical Professor, Pediatrics
SchoolMedicine
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    1. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696. Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage LC, Nagamani SCS. PMID: 37690181; PMCID: PMC10866211.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Characterization of spastic paraplegia in a family with a novel PSEN1 mutation. Brain Commun. 2023; 5(2):fcad030. Ringman JM, Dorrani N, Fernández SG, Signer R, Martinez-Agosto J, Lee H, Douine ED, Qiao Y, Shi Y, D'Orazio L, Pawar S, Robbie L, Kashani AH, Singer M, Byers JT, Magaki S, Guzman S, Sagare A, Zlokovic B, Cederbaum S, Nelson S, Sheikh-Bahaei N, Chui HC, Chávez-Gutiérrez L, Vinters HV. PMID: 36895955; PMCID: PMC9991506.
      View in: PubMed   Mentions: 1  
    3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954; PMCID: PMC8631250.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    4. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 11; 7(11):2320-2325. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. PMID: 33058507; PMCID: PMC7664258.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    5. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet. 2020 06 04; 106(6):830-845. Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N, Genomics England Research Consortium, Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. PMID: 32442410; PMCID: PMC7273536.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    6. Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome. Mol Genet Metab Rep. 2020 Jun; 23:100582. Yazdani S, Badjatiya A, Dorrani N, Lee H, Grody WW, Nelson SF, Dipple KM. PMID: 32280589; PMCID: PMC7138921.
      View in: PubMed   Mentions: 3  
    7. A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma. Pediatr Blood Cancer. 2020 03; 67(3):e28103. Crane JN, Chang VY, Yong WH, Salamon N, Hane Lee for UCLA Clinical Genomics Center, Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TB. PMID: 31793173; PMCID: PMC7307637.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    8. Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Mol Genet Genomic Med. 2020 01; 8(1):e1026. Eno CC, Barton SK, Dorrani N, Cederbaum SD, Deignan JL, Grody WW. PMID: 31701651; PMCID: PMC6978271.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    9. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    10. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 07 09; 12(1):105. Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. PMID: 31288860; PMCID: PMC6617651.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    11. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854; PMCID: PMC6661012.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    12. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. J Genet Couns. 2018 09; 27(5):1087-1101. Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, Dorrani N, Herzog MR, Lincoln S, Schoch K, Spillmann RC, Brokamp E, Undiagnosed Diseases Network. PMID: 29497923; PMCID: PMC6132569.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    13. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. PMID: 28933790.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    14. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Clin Case Rep. 2017 06; 5(6):833-840. Mullegama SV, Jensik P, Li C, Dorrani N, UCLA Clinical Genomics Center, Kantarci S, Blumberg B, Grody WW, Strom SP. PMID: 28588821; PMCID: PMC5458005.
      View in: PubMed   Mentions: 3  
    15. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36. Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. PMID: 28260531; PMCID: PMC5338099.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    16. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. PMID: 28132692; PMCID: PMC5294886.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    17. Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder. Front Mol Biosci. 2016; 3:65. Bie AS, Fernandez-Guerra P, Birkler RI, Nisemblat S, Pelnena D, Lu X, Deignan JL, Lee H, Dorrani N, Corydon TJ, Palmfeldt J, Bivina L, Azem A, Herman K, Bross P. PMID: 27774450; PMCID: PMC5053987.
      View in: PubMed   Mentions: 23  
    18. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes Cancer. 2016 Feb; 55(2):131-42. Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. PMID: 26542077.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 25944381; PMCID: PMC4613469.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    20. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. PMID: 25728775; PMCID: PMC4375619.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    21. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637; PMCID: PMC4278636.
      View in: PubMed   Mentions: 465     Fields:    Translation:Humans
    22. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014 May 01; 15:49. Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 24886118; PMCID: PMC4072606.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    23. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. Am J Med Genet A. 2013 Jul; 161A(7):1773-8. Bui PH, Dorrani N, Wong D, Perens G, Dipple KM, Quintero-Rivera F. PMID: 23696469.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    24. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3):308-14. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. PMID: 22958974; PMCID: PMC3608516.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    25. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61. Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansPHPublic Health
    26. Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report. Mol Cytogenet. 2009 Dec 18; 2:27. Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC. PMID: 20021661; PMCID: PMC2803171.
      View in: PubMed   Mentions: 9  
    27. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genet. 2008 Jan 04; 9:2. Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC. PMID: 18177502; PMCID: PMC2249594.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    28. Functional analysis of a recurrent missense mutation in Notch3 in CADASIL. J Neurol Neurosurg Psychiatry. 2005 Sep; 76(9):1242-8. Haritunians T, Chow T, De Lange RP, Nichols JT, Ghavimi D, Dorrani N, St Clair DM, Weinmaster G, Schanen C. PMID: 16107360; PMCID: PMC1739793.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    29. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy. Hum Genet. 2004 Jul; 115(2):104-11. Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M, Schanen NC. PMID: 15141347.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    30. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004 Apr 15; 126A(2):129-40. Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A. PMID: 15057977.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    31. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. Am J Med Genet A. 2003 Oct 15; 122A(3):223-6. Hammer S, Dorrani N, Hartiala J, Stein S, Schanen NC. PMID: 12966522.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    32. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):94-8. Hammer S, Dorrani N, Dragich J, Kudo S, Schanen C. PMID: 12112734.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
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