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Ralitza H. Gavrilova, M.D.

  1. Medical Geneticist
  2. Neurologist
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Publications

  1. Blazek AM, Meade G, Jackson LM, Gavrilova R, Stierwalt J, Martinez-Thompson JM, Duffy JR, Clark H, Machulda MM, Whitwell JL, Josephs KA, Utianski RL, Botha H. Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report. Neurol Genet. 2024 Dec; 10 (6):e200202 Epub 2024 Nov 01
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  2. Cirelli MA Jr, Wackel P, Javed R, Gavrilova R, Qureshi MY, Dearani JA, Boucher LM, Niaz T. SOS1-Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype? Am J Med Genet A. 2024 Oct 23; e63912 [Epub ahead of print]
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  3. Nathoo N, Neyal N, Atkinson EJ, Weinshenker BG, Tillema JM, Keegan BM, Pittock SJ, Tobin WO, Flanagan EP, Gavrilova R, Toledano M, Young N, Truitt K, Okuda DT, Zeydan B, Kantarci OH. Multiple sclerosis in Somali Americans: Nature or nurture? Mult Scler Relat Disord. 2024 Oct; 90:105842 Epub 2024 Aug 29
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  4. Chodnicki KD, Aksamit AJ, Gavrilova RH, Farnsworth PJ, McClelland CM. Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency. J Neuroophthalmol. 2024 Sep 1; 44 (3):437-440 Epub 2024 Feb 07
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  5. Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 6; 15 (8) Epub 2024 Aug 06
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  6. Lu X, Ng K, Pinto E Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee EW, Rosenfeld JA, Jiang YH. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. Eur J Hum Genet. 2024 Jul; 32 (7):879-883 Epub 2024 May 03
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  7. Moller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedlackova L, Lassuthova P, Liba Z, Vlckova M, William N, Klee EW, Gavrilova RH, Levy J, Capri Y, Scavina M, Korner RW, Valuvullah Z, Weiss C, Moller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Kusters B, Beggs AH, Genetti CA, Nicolai J, Dotsch J, Koy A, Bonnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2024 Jun 8 Epub 2024 June 08
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  8. Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27
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  9. Thurman S, Fischer C, Guerin J, Gavrilova R, Brodsky M. CAD-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment. J Child Neurol. 2024 May; 39 (5-6):218-221 Epub 2024 May 22
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  10. Brushaber D, Dickson D, Gavrilova R, Gendron T, Goldman J, Graff-Radford J, Huang E, Johnson N, Kantarci K, Knopman D, Petrucelli L, Rademakers R, Savica R, Tipton PW, Wszolek ZK, Botha H, Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL, ALLFTD Consortium. Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration. JAMA Netw Open. 2024 Apr 1; 7 (4):e244266 Epub 2024 Apr 01
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  11. Szakszon K, Lourenco CM, Callewaert BL, Genevieve D, Rouxel F, Morin D, Denomme-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadije J, Giltay J, van Gassen K, Mero G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-Gonzalez AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet. 2024 Jan 19; 61 (2):132-141
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  12. Corriveau-Lecavalier N, Barnard LR, Przybelski SA, Gogineni V, Botha H, Graff-Radford J, Ramanan VK, Forsberg LK, Fields JA, Machulda MM, Rademakers R, Gavrilova RH, Lapid MI, Boeve BF, Knopman DS, Lowe VJ, Petersen RC, Jack CR, Kantarci K, Jones DT. Assessing network degeneration and phenotypic heterogeneity in genetic frontotemporal lobar degeneration by decoding FDG-PET. Neuroimage Clin. 2024; 41:103559 Epub 2023 Dec 22
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  13. Beecher G, Gavrilova RH, Mandrekar J, Naddaf E. Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes. Brain Commun. 2024; 6 (2):fcae041 Epub 2024 Feb 14
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  14. Nathoo N, Gavrilova RH, Trejo-Lopez JA, McGarrah PW, Go RS, Alqallaf A, Tobin WO. Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia. Neurologist. 2023 Sep 1; 28 (5):332-334 Epub 2023 Sept 01
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  15. Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gosswein S, Di Donato N, Bertini ES, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ, Undiagnosed Diseases Network. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 4; 110 (5):774-789 Epub 2023 Apr 12
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  16. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359
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  17. Cox BC, Pearson JY, Mandrekar J, Gavrilova RH. The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study. Front Neurol. 2023; 14:1298569 Epub 2023 Dec 14
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  18. Muthusamy K, Sivadasan A, Dixon L, Sudhakar S, Thomas M, Danda S, Wszolek ZK, Wierenga K, Dhamija R, Gavrilova R. Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions. Front Neurol. 2023; 14:1219324 Epub 2023 July 26
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  19. Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonca A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL, Frontotemporal Dementia Prevention Initiative (FPI) Investigators. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nat Med. 2022 Oct; 28 (10):2194-2206 Epub 2022 Sept 22
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  20. Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK, ALLFTD Consortium. Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology. 2022 Sep 13; 99 (11):e1154-e1167 Epub 2022 July 05
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  21. Toller G, Cobigo Y, Ljubenkov PA, Appleby BS, Dickerson BC, Domoto-Reilly K, Fong JC, Forsberg LK, Gavrilova RH, Ghoshal N, Heuer HW, Knopman DS, Kornak J, Lapid MI, Litvan I, Lucente DE, Mackenzie IR, Mckenzie IR, McGinnis SM, Miller BL, Pedraza O, Rojas JC, Staffaroni AM, Wong B, Wszolek ZK, Boeve BF, Boxer AL, Rosen HJ, Rankin KP, and the ALLFTD research consortium. Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia. Neurology. 2022 Aug 1; 99 (5):e488-e499 Epub 2022 Aug 01
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  22. Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Jul; 42 (5):986-999 Epub 2022 Mar 28
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  23. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 Jun 13; 14(1):62.
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  24. Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 Oct; 9 (10):e1799 Epub 2021 Sept 12
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  25. Metz I, Gavrilova RH, Weigand SD, Frischer JM, Popescu BF, Guo Y, Gloth M, Tobin WO, Zalewski NL, Lassmann H, Tillema JM, Erickson BJ, Parisi JE, Becker S, Konig FB, Bruck W, Lucchinetti CF. Magnetic Resonance Imaging Correlates of Multiple Sclerosis Immunopathological Patterns. Ann Neurol. 2021 Sep; 90 (3):440-454 Epub 2021 July 19
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  26. Ciolfi A, Foroutan A, Capuano A, Pedace L, Travaglini L, Pizzi S, Andreani M, Miele E, Invernizzi F, Reale C, Panteghini C, Iascone M, Niceta M, Gavrilova RH, Schultz-Rogers L, Agolini E, Bedeschi MF, Prontera P, Garibaldi M, Galosi S, Leuzzi V, Soliveri P, Olson RJ, Zorzi GS, Garavaglia BM, Tartaglia M, Sadikovic B. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile. Clin Epigenetics. 2021 Aug 11; 13 (1):157
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  27. Qureshi MY, Patterson MC, Clark V, Johnson JN, Moutvic MA, Driscoll SW, Kemppainen JL, Huston J 3rd, Anderson JR, Badley AD, Tebben PJ, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette JC, Gavrilova RH. Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study. J Inherit Metab Dis. 2021 Mar; 44 (2):502-514 Epub 2020 Aug 31
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  28. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23(3):498-507. Epub 2020 Nov 04.
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  29. Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Svantnerova J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 Feb; 23 (2):384-395 Epub 2020 Nov 11
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  30. Fine AL, Liebo G, Gavrilova RH, Britton JW. Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease. Front Neurol. 2021; 12:779052 Epub 2021 Nov 29
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  31. Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK, Van Swieten JC, Lee SE, ARTFL/LEFFTDS Consortium. Brain volumetric deficits in MAPT mutation carriers: a multisite study. Ann Clin Transl Neurol. 2021 Jan; 8 (1):95-110 Epub 2020 Nov 28
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  32. Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A, SHMT2 Working Group. Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. Acta Neuropathol. 2020 Dec; 140 (6):971-975 Epub 2020 Oct 05
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  33. Blackburn PR, Carter JM, Oglesbee D, Westendorf JJ, Neff BA, Stichel D, Tsen DW, Gavrilova RH, Wesseling P, von Deimling A, Caulfield TR, Klee EW, Pusch S, Inwards CY. An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid. HGG Adv. 2020 Oct 22; 1 (1):100006 Epub 2020 Aug 24
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  34. Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C, UCLA Clinical Genomics Center. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020 Sep 3; 107 (3):544-554 Epub 2020 July 29
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  35. Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet Med. 2020 Aug; 22 (8):1413-1417 Epub 2020 May 05
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  36. Gentry MT, Lapid MI, Syrjanen J, Calvert K, Hughes S, Brushaber D, Kremers W, Bove J, Brannelly P, Coppola G, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GY, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kramer J, Kukull W, Lucente D, Lungu C, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boeve BF, Boxer A, Rosen H, LEFFTDS Consortium. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimers Dement. 2020 Aug; 16 (8):1115-1124 Epub 2020 July 13
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  37. Ryan CS, Edlund W, Mandrekar J, Wong-Kisiel LC, Gavrilova RH, Kotagal S. Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman Syndrome. J Child Neurol. 2020 Jul 27; 883073820941755 Epub 2020 July 27
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  38. Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet. 2020 Apr; 6 (2):e402 Epub 2020 Mar 02
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  39. Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford N, Jack CR Jr, Jones D, Knopman D, Kremers WK, Lapid M, Rademakers R, Ramos EM, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study. Neurobiol Aging. 2020 Apr; 88:42-50 Epub 2019 Dec 12
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  40. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020 Apr; 63 (4):103817 Epub 2019 Nov 25
    View PubMed
  41. Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot E, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schule R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schols L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 Jan 30; 11 (1):595
    View PubMed
  42. Staffaroni AM, Cobigo Y, Goh SM, Kornak J, Bajorek L, Chiang K, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dever R, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Heuer HW, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kramer JH, Kremers WK, Kukull WA, Litvan I, Ljubenkov PA, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Rosen HJ, ARTFL/LEFFTDS consortium. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 Jan; 16 (1):37-48 Epub 2020 Jan 06
    View PubMed
  43. Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Fields J, Fong J, Foroud T, Forsberg LK, Gavrilova R, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Heuer HW, Hsiung GR, Huey E, Irwin D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kremers W, Kukull W, Litvan I, Ljubenkov P, Lungu C, Mackenzie I, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Rademakers R, Boeve BF, Rosen HJ, Boxer AL, Coppola G, ARTFL/LEFFTDS consortium. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimers Dement. 2020 Jan; 16 (1):118-130
    View PubMed
  44. Miyagawa T, Brushaber D, Syrjanen J, Kremers W, Fields J, Forsberg LK, Heuer HW, Knopman D, Kornak J, Boxer A, Rosen HJ, Boeve BF, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrell J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman JS, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung R, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Kraft R, Kramer J, Kukull W, Litvan I, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez MF, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw L, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Wang P, Weintraub S, Wong B, Wszolek Z. Utility of the global CDR((R)) plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium. Alzheimers Dement. 2020 Jan; 16 (1):106-117
    View PubMed
  45. Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ, ARTFL/LEFFTDS consortium. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2020 Jan; 16 (1):11-21
    View PubMed
  46. Boeve B, Bove J, Brannelly P, Brushaber D, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GR, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kraft R, Kramer J, Kremers W, Kukull W, Lapid M, Lucente D, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boxer A, Rosen H, LEFFTDS Consortium. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology. Alzheimers Dement. 2020 Jan; 16 (1):22-36 Epub 2020 Jan 06
    View PubMed
  47. Boczek NJ, Macke EL, Kemppainen J, Klee EW, Renaud DL, Gavrilova RH. Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report. Child Neurol Open. 2020 Jan-Dec; 7:2329048X20955003 Epub 2020 Oct 14
    View PubMed
  48. Kornak J, Fields J, Kremers W, Farmer S, Heuer HW, Forsberg L, Brushaber D, Rindels A, Dodge H, Weintraub S, Besser L, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant IM, Grossman M, Haley D, Hsiao J, Hsiung R, Huey ED, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kraft R, Kramer J, Kukull W, Lapid M, Litvan I, Ljubenkov P, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez M, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski-Miller E, Sengdy P, Shaw L, Staffaroni AM, Sutherland M, Syrjanen J, Tartaglia C, Tatton N, Taylor J, Toga A, Trojanowski J, Wang P, Wong B, Wszolek Z, Boeve B, Boxer A, Rosen H, ARTFL/LEFFTDS Consortium. Nonlinear Z-score modeling for improved detection of cognitive abnormality. Alzheimers Dement (Amst). 2019 Dec; 11:797-808 Epub 2019 Dec 05
    View PubMed
  49. Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Three rare disease diagnoses in one patient through exome sequencing. Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6). Epub 2019 Dec 13.
    View PubMed
  50. Chen Q, Boeve BF, Schwarz CG, Reid R, Tosakulwong N, Lesnick TG, Bove J, Brannelly P, Brushaber D, Coppola G, Dheel C, Dickerson BC, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova RH, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford NR, Grossman M, Haley D, Heuer HW, Hsiung GR, Huey E, Irwin DJ, Jack CR, Jones DT, Jones L, Karydas AM, Knopman DS, Kornak J, Kramer J, Kremers W, Kukull WA, Lapid M, Lucente D, Lungu C, Mackenzie IRA, Manoochehri M, McGinnis S, Miller BL, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga AW, Trojanowski J, Weintraub S, Wong B, Boxer AL, Rosen H, Wszolek Z, Kantarci K, LEFFTDS Consortium. Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers. Neurobiol Aging. 2019 Nov; 83:54-62 Epub 2019 Aug 15
    View PubMed
  51. Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Wszolek ZK, Rosen H, Boxer AL, Kantarci K. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. J Neuroimaging. 2019 Sep; 29 (5):624-629 Epub 2019 June 07
    View PubMed
  52. Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Syrjanen J, Wszolek ZK, Rosen H, Boxer AL, Kantarci K. Frontal lobe (1)H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers. Neurology. 2019 Aug 20; 93 (8):e758-e765 Epub 2019 July 17
    View PubMed
  53. Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Minaur S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 Aug; 40 (8):1013-1029 Epub 2019 June 18
    View PubMed
  54. Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, SYNAPS Study Group. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019 Jul 12; 10 (1):3094 Epub 2019 July 12
    View PubMed
  55. Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ, ARTFL/LEFFTDS consortium. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2019 May 11 [Epub ahead of print]
    View PubMed
  56. Ng PS, Pinto MV, Neff JL, Hasadsri L, Highsmith EW, Fidler ME, Gavrilova RH, Klein CJ. Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE). Neurol Genet. 2019 Apr; 5 (2):e314 Epub 2019 Mar 06
    View PubMed
  57. Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH. Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. Clin Case Rep. 2019 Apr; 7 (4):632-637 Epub 2019 Feb 19
    View PubMed
  58. Wolking S, May P, Mei D, Moller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stohr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12; 92 (11):e1238-e1249 Epub 2019 Feb 08
    View PubMed
  59. Cogne B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjold M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla OL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk OL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomme-Pichon AS, Ferec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bezieau S, Kury S, Campeau PM, CAUSES Study//Deciphering Developmental Disorders study. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7; 104 (3):530-541 Epub 2019 Feb 28
    View PubMed
  60. Fervenza FC, Gavrilova RH, Nasr SH, Irazabal MV, Nath KA. CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report. Am J Kidney Dis. 2019 Feb; 73 (2):273-277 Epub 2018 Oct 08
    View PubMed
  61. Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet. 2019 Feb; 5 (1):e305 Epub 2019 Jan 24
    View PubMed
  62. Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR Jr, Jones DT, Knopman DS, Kremers WK, Lapid M, Rademakers R, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K, LEFFTDS Consortium. Rates of lobar atrophy in asymptomatic MAPT mutation carriers. Alzheimers Dement (N Y). 2019; 5:338-346 Epub 2019 July 30
    View PubMed
  63. Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Am J Med Genet A. 2018 Dec; 176(12):2798-2802. Epub 2018 Oct 22.
    View PubMed
  64. Pinto E Vairo F, Bertsch N, Klee EW, Gavrilova RH. GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. Acta Neuropathol Commun 2018 Oct 24; 6 (1):112
    View PubMed
  65. Stitt DW, Gavrilova R, Watson R, Hassan A. An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant. Neurocase. 2018 Oct - Dec; 24 (5-6):266-268 Epub 2019 Feb 12
    View PubMed
  66. Conboy E, Selcen D, Brodsky M, Gavrilova R, Ho ML. Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. Semin Pediatr Neurol. 2018 Jul; 26:16-20
    View PubMed
  67. Almeqdadi M, Kemppainen JL, Pichurin PN, Gavrilova RH. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. Am J Case Rep. 2018 Mar 25; 19:347-353.
    View PubMed
  68. Botha H, Finch NA, Gavrilova RH, Machulda MM, Fields JA, Lowe VJ, Petersen RC, Jack CR Jr, Dheel CM, Gearhart DJ, Knopman DS, Rademakers R, Boeve BF. Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome. Neurol Genet. 2017 Dec; 3 (6):e201 Epub 2017 Dec 11
    View PubMed
  69. Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients. Mol Genet Metab Rep. 2017 Dec; 13:46-51 Epub 2017 Aug 11
    View PubMed
  70. Warner ME, Martin DP, Warner MA, Gavrilova RH, Sprung J, Weingarten TN. Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature. Anesth Pain Med. 2017 Oct; 7 (5):e57826 Epub 2017 July 26
    View PubMed
  71. Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Oct; 38 (10):1365-1371 Epub 2017 July 10
    View PubMed
  72. Mansukhani S, Ho ML, Gavrilova RH, Mohney BG, Quiram PA, Brodsky MC. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease. J AAPOS. 2017 Oct; 21 (5):420-422 Epub 2017 Aug 31
    View PubMed
  73. Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Moller RS, Lerche H, Rubboli G. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain. 2017 Sep 1; 140 (9):2337-2354
    View PubMed
  74. Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med. 2017 Jul; 5 (4):410-417 Epub 2017 June 14
    View PubMed
  75. Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Am J Med Genet A. 2017 May; 173 (5):1328-1333 Epub 2017 Mar 21
    View PubMed
  76. Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. J Biol Chem. 2017 Mar 03; 292(9):3866-3876. Epub 2017 Jan 05.
    View PubMed
  77. Codipilly DC, Gavrilova RH, Tangalos EG. De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma. BMJ Case Rep. 2017 Jan 20; 2017
    View PubMed
  78. Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernandez-Jaen A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG, DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170 (3):670-5 Epub 2016 Feb 03
    View PubMed
  79. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91(3):297-307.
    View PubMed
  80. Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal PQ-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. Pediatr Neurol. 2016 Feb; 55:46-51.
    View PubMed
  81. Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole exome sequencing and heterologous cellular electrophysiology studies elucidate a novel loss-of-function mutation in the cacna1a-encoded neuronal p/q-type calcium channel in a child with congenital hypotonia and developmental delay Journal Of The Japan Petroleum Institute. 2016 Jan; 59: (1)46-51.
  82. Schuurs-Hoeijmakers J, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kwan A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Hopkin R, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Tatton Brown K, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, van Karnebeek C, Van Allen M, Selby K, Tarailo-Graovac M, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin R, Chu Y, Chung B, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related Syndrome - Report on 19 cases. Am J Medical Genetics. 2015 Oct.
  83. Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ. Application of whole exome sequencing in undiagnosed inherited polyneuropathies. J Neurol Neurosurg Psychiatry. 2014 Nov; 85 (11):1265-72 Epub 2014 Mar 06
    View PubMed
  84. Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N. Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 2014 Jan 7; 82 (1):49-56 Epub 2013 Dec 04
    View PubMed
  85. Broomall E, Renaud D, Ghadban R, Gavrilova R, Brodsky MC. Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. JAMA Ophthalmol. 2013 Nov; 131(11):1485-7.
    View PubMed
  86. Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013 Oct; 59(10):1461-9. Epub 2013 Jul 09.
    View PubMed
  87. Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ. Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. J Neurol Neurosurg Psychiatry. 2013 Apr; 84 (4):386-91 Epub 2012 Nov 05
    View PubMed
  88. Dhamija R, Raymond GV, Gavrilova R. Clinical reasoning: a 56-year-old man with progressive spasticity. Neurology. 2013 Feb 26; 80 (9):e84-8
    View PubMed
  89. Flanagan EP, Gavrilova RH, Boeve BF, Kumar N, Jelsing EJ, Silber MH. Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder. Neurology. 2013 Jan 1; 80(1):118-20. Epub 2012 Dec 12.
    View PubMed
  90. Jones LK Jr, Liewluck T, Gavrilova RH. Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency. Neuromuscul Disord. 2012 Aug; 22(8):763-6. Epub 2012 May 16.
    View PubMed
  91. Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. Eur J Hum Genet. 2012 Jun; 20 (6):618-25 Epub 2012 Jan 18
    View PubMed
  92. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar; 135 (Pt 3):765-83
    View PubMed
  93. Dhamija R, Gavrilova RH, Wirrell EC. Valproate-induced worsening of seizures: clue to underlying diagnosis. J Child Neurol. 2011 Oct; 26(10):1319-21. Epub 2011 Mar 31.
    View PubMed
  94. Gurrieri C, Kivela JE, Bojanic K, Gavrilova RH, Flick RP, Sprung J, Weingarten TN. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth. 2011 Aug; 58(8):751-63. Epub 2011 Jun 09.
    View PubMed
  95. Passov V, Gavrilova RH, Strand E, Cerhan JH, Josephs KA. Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia. Arch Neurol. 2011 Mar; 68 (3):376-80
    View PubMed
  96. Brinjikji W, Swanson JW, Zabel C, Dyck PJ, Tracy JA, Gavrilova RH. Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. JIMD Rep. 2011; 1:89-96. Epub 2011 Jun 22.
    View PubMed
  97. Gavrilova R, Passov V, Strand E, Cerhan J, Josephs K. Sporadic Corticobasal Syndrome with Progranulin Mutation Presenting as Progressive Apraxic Agraphia. Archives of Neurology. 2010.
  98. Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D. Vitamin A deficiency in an infant with PAGOD syndrome. Am J Med Genet A. 2009 Oct; 149A (10):2241-7
    View PubMed
  99. Lucchinetti CF, Gavrilova RH, Metz I, Parisi JE, Scheithauer BW, Weigand S, Thomsen K, Mandrekar J, Altintas A, Erickson BJ, Konig F, Giannini C, Lassmann H, Linbo L, Pittock SJ, Bruck W. Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis. Brain. 2008 Jul; 131 (Pt 7):1759-75 Epub 2008 June 05
    View PubMed
  100. Miller RC, Lachance DH, Lucchinetti CF, Keegan BM, Gavrilova RH, Brown PD, Weinshenker BG, Rodriguez M. Multiple sclerosis, brain radiotherapy, and risk of neurotoxicity: the Mayo Clinic experience. Int J Radiat Oncol Biol Phys. 2006 Nov 15; 66(4):1178-86. Epub 2006 Sep 11.
    View PubMed
  101. Meyer MA, Gavrilova RH. Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy:clinical and radiographic features. J Neuroimaging. 2002 Jan; 12(1):87-8.
    View PubMed
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