RalitzaHGavrilovaMD

PubMed

• Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
  Alejandro Ferrer, Patrick Duffy, Rory J Olson, Michael A Meiners, Laura Schultz-Rogers, Erica L Macke, Stephanie Safgren, Joel A Morales-Rosado, Margot A Cousin, Gavin...> ;Human Genetics. 2024 Mar 27
• Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.
  Mandrekar, J., Beecher, G., Gavrilova, R., Naddaf, E.> ;Brain Communications. 2024 Jan 1
• Assessing network degeneration and phenotypic heterogeneity in genetic frontotemporal lobar degeneration by decoding FDG-PET.
  Nick Corriveau-Lecavalier, Leland R Barnard, Scott A Przybelski, Venkatsampath Gogineni, Hugo Botha, Jonathan Graff-Radford, Vijay K Ramanan, Leah K Forsberg, Julie A ...> ;Neuroimage. Clinical. 2024 Jan 1
• 1 citations
  Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 pa...
  Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley ...> ;Journal of Medical Genetics. 2024 Jan 19
• Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia.
  Nabeela Nathoo, Ralitza H Gavrilova, Jorge A Trejo-Lopez, Patrick W McGarrah, Ronald S Go, Abdulradha Alqallaf, W Oliver Tobin> ;The Neurologist. 2023 Sep 1
• 6 citations
  Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
  Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A Zarate, G Bradley Schaefer, Jorge Luis Granadillo De Luque,...> ;American Journal of Human Genetics. 2023 May 4
• 4 citations
  Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
  Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova> ;Frontiers in Neurology. 2023 Jan 1
• The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study.
  Cox, B., Pearson, J., Mandrekar, J., Gavrilova, R.> ;Frontiers in Neurology. 2023 Jan 1
• 34 citations
  Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
  Adam M Staffaroni, Melanie Quintana, Barbara Wendelberger, Hilary W Heuer, Lucy L Russell, Yann Cobigo, Amy Wolf, Sheng-Yang Matt Goh, Leonard Petrucelli, Tania F Gend...> ;Nature Medicine. 2022 Oct 1
• Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia.
  Toller, G., Cobigo, Y., Ljubenkov, P., Appleby, B., Dickerson, B., Domoto-Reilly, K., Fong, J., Forsberg, L., Gavrilova, R., Ghoshal, N., Heuer, H., Knopman, D., Korna...> ;Neurology. 2022 Aug 1
• 3 citations
  Differences in Motor Features of,, orVariant Carriers With Familial Frontotemporal Lobar Degeneration.
  Philip Wade Tipton, Angela B Deutschlaender, Rodolfo Savica, Michael G Heckman, Danielle E Brushaber, Bradford C Dickerson, Ralitza H Gavrilova, Daniel H Geschwind, Nu...> ;Neurology. 2022 Sep 13
• Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
  Agnes Donko, Douglas B Kuhns, Margot A Cousin, Matthew J Smith, Keith A Sacco, Eric W Klee, Avni Y Joshi, Ralitza H Gavrilova, Steven M Holland, Thomas L Leto, Roshini...> ;Journal of Clinical Immunology. 2022 Jul 1
• 2 citations
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
  Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
• 2 citations
  Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
  Anthony L. Fine, Greta B. Liebo, Ralitza H. Gavrilova, Jeffrey W. Britton> ;Frontiers in Neurology. 2021 Nov 29
• 2 citations
  Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
  Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova> ;Molecular Genetics & Genomic Medicine. 2021 Sep 12
• 17 citations
  Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
  Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, Lucia Pedace, Lorena Travaglini, Simone Pizzi, Marco Andreani, Evelina Miele, Federica Invernizzi, Chiara Reale, Cel...> ;Clinical Epigenetics. 2021 Aug 11
• 11 citations
  Magnetic Resonance Imaging Correlates of Multiple Sclerosis Immunopathological Patterns
  Imke Metz, Ralitza H. Gavrilova, Stephen D. Weigand, Josa M. Frischer, Bogdan F. Gh. Popescu, Yong Guo, Mareike Gloth, W. O. Tobin, Nicholas L. Zalewski, Hans Lassmann...> ;Annals of Neurology. 2021 Jul 19
• 20 citations
  Brain volumetric deficits in MAPT mutation carriers: A multisite study
  Stephanie A. Chu, Taru Flagan, Adam M. Staffaroni, Lize C. Jiskoot, Jersey Deng, Salvatore Spina, Liwen Zhang, Virginia E. Sturm, Jennifer S. Yokoyama, William W. Seel...> ;Annals of Clinical and Translational Neurology. 2021 Jan 1
• 2 citations
  Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
  Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
• 18 citations
  Impact of integrated translational research on clinical exome sequencing.
  Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke, Garrett Jenkinson, Alejandro Ferrer, Laura Schultz-Rogers, Rory J. Olson, Gavin ...> ;Genetics in Medicine. 2021 Mar 1
• 3 citations
  An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid
  Patrick R. Blackburn, Jodi M. Carter, Devin Oglesbee, Jennifer J. Westendorf, Brian A. Neff, Damian Stichel, David W. Tsen, Ralitza H. Gavrilova, Pieter Wesseling, And...> ;HGG Advances. 2020 Oct 22
• 5 citations
  Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report:
  Nicole J. Boczek, Erica L. Macke, Jennifer L. Kemppainen, Eric W. Klee, Deborah L. Renaud, Ralitza H. Gavrilova> ;Child Neurology Open. 2020 Oct 14
• 19 citations
  Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
  Angels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas-Serra, Enkhtuul Tsogtbaatar, Nikita R. Dsouza, Agatha S...> ;Acta Neuropathologica. 2020 Oct 5
• 12 citations
  Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
  Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst, Daryl A. Scott, Seema R. Lalani, Jill A. Rosenfeld, Mahshid S...> ;American Journal of Human Genetics. 2020 Sep 3
• 10 citations
  Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort
  Melanie T. Gentry, Maria I. Lapid, Jeremy Syrjanen, Kendrick J. Calvert, Samantha R. Hughes, Danielle Brushaber, Walter K. Kremers, Jessica Bove, Patrick Brannelly, Gi...> ;Alzheimer's & Dementia. 2020 Aug 1
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Journal Articles

• Developmental Delay and Failure to Thrive Associated with a Loss‐of‐Function Variant in WHSC1 (NSD2)  
  Linda Hasadsri, Ralitza H Gavrilova, American Journal of Medical Genetics Part A
• High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood  
  Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G, Clin Chem, 1/1/2013
• Sporadic Corticobasal Syndrome with Progranulin Mutation Presenting as Progressive Apraxic Agraphia  
  Gavrilova R, Passov V, Strand E, Cerhan J, Josephs K, Archives of Neurology, 1/1/2010

Books/Book Chapters

• Mayo Clinic Neurology Board Review: Basic Sciences and Psychiatry for Initial Certification 
  Chapter: Patterns of Inheritance in Neurogenetic Disease 
  Gavrilova RH, Michels VEditors: Kelly D Flemming and Lyell K Jones.Mayo Clinic Scientific Press2015
• Mayo Clinic Neurology Board Review: Basic Sciences and Psychiatry for Initial Certification 
  Chapter: Chromosomal Syndromes 
  Gavrilova RH, Michels VEditors: Kelly D Flemming and Lyell K Jones.Mayo Clinic Scientific Press2015
• Essentials of anatomic pathology 
  Chapter: Human genetic disorders 
  Page 535 - 598Kruisselbrink TM, Lindor NM, Mitchell EB, Thomas BC, Runke CK, Kotzer KE, Pruthi RK, Oglesbee D, Grycki EM, Gavrilova RHEditors: Cheng L; Bostwick DG.Springer, NYEdition 3rd,2011

Abstracts/Posters

• A Case of E200K Creutzfeldt Jakob Disease presenting with REM behavior sleep disorder and severe obstructive sleep apnea
  Gavrilova RH, American Academy of Neurology 67th Annual Meeting, Washington, DC, 1/1/2015
• Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium...
  Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ, Pediatric Academic Societies, 1/1/2015
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Point Mutations in FXN-Encoded Frataxin
  Gavrilova RH, European Conference of Human Genetics, Milan, Italy, 1/1/2014
• Longitudinal changes in brain MRI and neuropsychological measures in asymptomatic and symptomatic familial frontotemporal lobar degeneration with mutations in MAPT
  Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Gunter J, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields J, Machulda M, Fe..., 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Corticobasal syndrome in familial frontotemporal lobar degeneration and serial imaging associated with a mutation in progranulin
  Owens E, Baker M, Boeve B, Bruns M, Gavrilova R, Jack C, Josephs K, Kantarci K, Lowe V, Molano J, Whitwell J, 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Identification of novel FTLD-TDP genes using whole-genome sequencing
  Pottier C, Baker M, Blitterswijk M, Brown P, Kuntz K, Gavrilova R, Sorenson E, Murray M, Parisi J, Petersen R, Knopman D, Josephs K, Neill GR, Dickson D, Boeve B, Rade..., 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Longitudinal Changes in Brain MRI and Neuropsychological Measures in Asymptomatic and Symptomatic Familial Frontotemporal Lobar Degeneration with Mutations in MAPT Alz...
  Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields F, Machulda M, Ferman T, Lu..., Association International Conference, 1/1/2014
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Point Mutations in FXN-Encoded Frataxin
  Dhamija R, Hesemann J, Teigen C, Johnson J, Ackerman M, Oglesbee D, Isaya G, Tebben P, Patterson M, Gavrilova R, ESHG Conference, 1/1/2014
• Neuroimaging and Clinical Features in Late onset Alexander Disease
  Graff Radford J, Lachance DH, Schwartz KM, Gavrilova RH, American Academy of Neurology, Philadelphia, PA, 1/1/2014
• Whole Exome Sequencing Reveals De Novo PACS1 Mutation
  Schahl K, Gavrilova R, ACMG Annual Clinical Genetics Meeting, 1/1/2014
• 17a-Hydrolase Deficiency In Three 46, XY Phenotypic Female Patients
  Maraka S, Erickson D, Gavrilova R, Lteif A, AACE Conference, 1/1/2014
• Whole Exome Sequencing Reveals Novel Variant in CACNA1A Gene in a Patient with Global Developmental Delay
  Ji Y, Johnson K, Schahl K, Patterson M, Gavrilova R, ACMG Conference, 1/1/2014
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Points Mutations in FXN
  Gavrilova R, Ataxia Investigators Meeting, 1/1/2014
• Woodhouse-Sakati Syndrome with 3-Methylglutaconic Aciduria and Coenzyme Q10 Deficiency
  Gavrilova RH, International Congress of Inborn Errors of Metabolism
, Barcelona, Spain, 1/1/2013
• Peripapillary Chorioretinal Lacunae in an Autosomal Microdeletion Syndrome
  Gavrilova RH, European Society of Human Genetics Conference, Barcelona, Spain, 1/1/2013
• Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Study
  Gavrilova RH, Annual Clinical Genetics Meeting, Phoenix, AZ, 1/1/2013
• Adult Onset Autosomal Dominant Leukodystrophy Presenting with REM Sleep Behavior Disorder
  Gavrilova RH, American Academy of Neurology 65th Annual Meeting, San Diego, CA, 1/1/2013
• Exome sequencing as a diagnostic tool in diverse neuropathies
  Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJB, Gavrilova R, Smith DI, Kocher JP, Dyck PJ, J Peripher Nerv Syst, 1/1/2013
• Woodhouse-Sakati Syndrome with 3-Methylglutaconic Aciduria and Coenzyme Q10 and Deficiency
  Gavrilova R, SSIEM, 1/1/2013
• Genetics in Huntington's disease
  Gavrilova RH, Psychiatric Genomics: Applications for Clinical Practice, Rochester, MN, 1/1/2012
• Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
  Boeve B, Graff-Radford N, Boylan K, DeJesus-Hernandez M, Knopman D, Josephs K, Pedraza O, Vemuri P, Rush B, Fields J, Ferman T, Baker M, Rutherford N, Jones D, Lowe V,..., Neurology, 1/1/2012
• Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with GGGGCC repeat expansion in C9ORF72
  Boeve B, Graff-Radford N, Boylan K, DeJesus-Hernandez M, Knopman D, Josephs K, Pedraza O, Vemuri P, Rush B, Fields J, Ferman T, Baker M, Rutherford N, Jones D, Lowe V,..., Dement Geriatr Cogn Disord, 1/1/2012
• The Genetics and Psychiatric Treatment of Huntington Disease
  Gavrilova RH, Psychiatric Genomics: Applications for Clinical Practice, Rochester, MN, 1/1/2011
• Infant with PAGOD Syndrome Phenotype and Vitamin A Deficiency
  Gavrilova RH, SIMD 2010 Annual Meeting, Albuquerque, New Mexico, 1/1/2010
• Examples of Psychiatric Genomics - Medical Genetics: Huntington Disease
  Gavrilova RH, Psychiatric Genomics: Applications for Clinical Practice, Rochester, MN, 1/1/2010
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Lectures

• Childhood Leukodystrophies 
  Belgrade, Serbia - 1/1/2015
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Points Mutations in FXN 
  Las Vegas, NV - 1/1/2014
• Differential Diagnosis of MS and Non-MS White Matter Diseases
 
  Scottsdale, AZ - 1/1/2013
• Differential Diagnosis of MS and Non-MS White Matter Diseases 
  Phoenix, AZ - 1/1/2013
• Stroke in Patients with Polymerase Gamma 1 (POLG1) Mutations 
  Turkey - 1/1/2011
• Combined Malonic and Methylmalonic Aciduria with Normal Malonyl-CoA Decarboxylase (MCD) Activity Detected by Newborn Screening (NBS) 
  1/1/2008
• PAGOD Syndrome or Fetal Vitamin A Deficiency? 
  Barcelona, Spain - 1/1/2006
• The Radiographic Spectrum of Biopsy Proven Inflammatory Demyelinating Disease 
  San Diego, CA - 1/1/2006
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