Brent Linden Fogel
Professor-in-Residence, Neurology, University of California Los Angeles
Professor-in-Residence, Human Genetics, University of California Los Angeles
Research Interests
- Neurogenetics
- Genomics of Neurological Disease
- Genetic Diagnostics
- Neurodevelopment
- Regulation of gene expression
- Gene therapy
- Bioinformatics
- Systems biology
- Molecular genetics
Biography
Dr. Brent Fogel obtained a Ph.D. in Microbiology and Molecular Genetics from the Medical College of Wisconsin as well as an M.D. degree. He completed his residency training in Neurology at UCLA as well as a research fellowship in Neurogenetics. He is currently an Associate Professor in the Departments of Neurology and Human Genetics at the David Geffen School of Medicine at UCLA. Dr. Fogel’s research studies genomic methods to improve diagnosis of neurological disease, basic molecular mechanisms of neuronal function to understand how impairment can lead to neurodegenerative disorders such as cerebellar ataxia and develop new methods of treatment such as gene therapy, and the genetics of neurodevelopment to investigate conditions such as autism spectrum disorder and other neurological disorders. Clinically, Dr. Fogel directs the UCLA Neurogenetics Clinic where he is using genome-wide methods to identify rare and novel causes of neurodegenerative disease, particularly cerebellar ataxia, as well as other disorders including various forms of leukodystrophy and spastic paraparesis. Dr. Fogel is a member of the UCLA Ataxia Center and directs the Ataxia and Neurogenetics Biobank Program. Dr. Fogel also directs the Clinical Neurogenomics Research Center (CNRC) within the UCLA Department of Neurology. The CNRC facilitates incorporation of genomic data into clinical care and links patient populations with precision health-based research studies into the genetic and molecular basis of disease to improve diagnosis and treatment. He has authored many research and clinical articles, reviews, and book chapters on spinocerebellar ataxia, clinical neurogenetics, and neurodevelopmental disease. Dr. Fogel’s work has been funded by the American Academy of Neurology, the American Brain Foundation, the National Institutes of Health, and the National Ataxia Foundation.
Publications
A selected list of publications:
- Dutta Suman, Hornung Simon, Kruayatidee Adira, Maina Katherine N, Del Rosario Irish, Paul Kimberly C, Wong Darice Y, Duarte Folle Aline, Markovic Daniela, Palma Jose-Alberto, Serrano Geidy E, Adler Charles H, Perlman Susan L, Poon Wayne W, Kang Un Jung, Alcalay Roy N, Sklerov Miriam, Gylys Karen H, Kaufmann Horacio, Fogel Brent L, Bronstein Jeff M, Ritz Beate, Bitan Gal α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy Acta neuropathologica, 2021; 142(3): 495-511.
- Wong Darice Y, Fogel Brent L Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report Journal of medical case reports, 2021; 15(1): 432.
- Hinman Jason D, Ngo Kathie J, Kim Deborah, Chen Cidi, Abraham Carmela R, Ghanbari Mohsen, Ikram M Arfan, Kushner Steven A, Kawaguchi Riki, Coppola Giovanni, Goth Kerstin, Bellusci Saverio, Hernandez Israel, Kosik Kenneth S, Fogel Brent L miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy Human molecular genetics, 2021; 30(1): 103-118.
- Pelletier Félixe, Perrier Stefanie, Cayami Ferdy K, Mirchi Amytice, Saikali Stephan, Tran Luan T, Ulrick Nicole, Guerrero Kether, Rampakakis Emmanouil, van Spaendonk Rosalina M L, Naidu Sakkubai, Pohl Daniela, Gibson William T, Demos Michelle, Goizet Cyril, Tejera-Martin Ingrid, Potic Ana, Fogel Brent L, Brais Bernard, Sylvain Michel, Sébire Guillaume, Lourenço Charles Marques, Bonkowsky Joshua L, Catsman-Berrevoets Coriene, Pinto Pedro S, Tirupathi Sandya, Strømme Petter, de Grauw Ton, Gieruszczak-Bialek Dorota, Krägeloh-Mann Ingeborg, Mierzewska Hanna, Philippi Heike, Rankin Julia, Atik Tahir, Banwell Brenda, Benko William S, Blaschek Astrid, Bley Annette, Boltshauser Eugen, Bratkovic Drago, Brozova Klara, Cimas Icíar, Clough Christopher, Corenblum Bernard, Dinopoulos Argirios, Dolan Gail, Faletra Flavio, Fernandez Raymond, Fletcher Janice, Garcia Garcia Maria Eugenia, Gasparini Paolo, Gburek-Augustat Janina, Gonzalez Moron Dolores, Hamati Aline, Harting Inga, Hertzberg Christoph, Hill Alan, Hobson Grace M, Innes A Micheil, Kauffman Marcelo, Kirwin Susan M, Kluger Gerhard, Kolditz Petra, Kotzaeridou Urania, La Piana Roberta, Liston Eriskay, McClintock William, McEntagart Meriel, McKenzie Fiona, Melançon Serge, Misbahuddin Anjum, Suri Mohnish, Monton Fernando I, Moutton Sebastien, Murphy Raymond P J, Nickel Miriam, Onay Hüseyin, Orcesi Simona, Özkınay Ferda, Patzer Steffi, Pedro Helio, Pekic Sandra, Pineda Marfa Mercedes, Pizzino Amy, Plecko Barbara, Poll-The Bwee Tien, Popovic Vera, Rating Dietz, Rioux Marie-France, Rodriguez Espinosa Norberto, Ronan Anne, Ostergaard John R, Rossignol Elsa, Sanchez-Carpintero Rocio, Schossig Anna, Senbil Nesrin, Sønderberg Roos Laura K, Stevens Cathy A, Synofzik Matthis, Sztriha László, Tibussek Daniel, Timmann Dagmar, Tonduti Davide, van de Warrenburg Bart P, Vázquez-López Maria, Venkateswaran Sunita, Wasling Pontus, Wassmer Evangeline, Webster Richard I, Wiegand Gert, Yoon Grace, Rotteveel Joost, Schiffmann Raphael, van der Knaap Marjo S, Vanderver Adeline, Martos-Moreno Gabriel Á, Polychronakos Constantin, Wolf Nicole I, Bernard Geneviève Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C The Journal of clinical endocrinology and metabolism, 2021; 106(2): e660-e674.
- Maple-Grødem Jodi, Paul Kimberly C, Dalen Ingvild, Ngo Kathie J, Wong Darice, Macleod Angus D, Counsell Carl E, Bäckström David, Forsgren Lars, Tysnes Ole-Bjørn, Kusters Cynthia D J, Fogel Brent L, Bronstein Jeff M, Ritz Beate, Alves Guido Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts Journal of Parkinson’s disease, 2021; 11(4): 1569-1578.
- Cif Laura, Demailly Diane, Lin Jean-Pierre, Barwick Katy E, Sa Mario, Abela Lucia, Malhotra Sony, Chong Wui K, Steel Dora, Sanchis-Juan Alba, Ngoh Adeline, Trump Natalie, Meyer Esther, Vasques Xavier, Rankin Julia, Allain Meredith W, Applegate Carolyn D, Attaripour Isfahani Sanaz, Baleine Julien, Balint Bettina, Bassetti Jennifer A, Baple Emma L, Bhatia Kailash P, Blanchet Catherine, Burglen Lydie, Cambonie Gilles, Seng Emilie Chan, Bastaraud Sandra Chantot, Cyprien Fabienne, Coubes Christine, d’Hardemare Vincent, d’Hardemare Vincent, Doja Asif, Dorison Nathalie, Doummar Diane, Dy-Hollins Marisela E, Farrelly Ellyn, Fitzpatrick David R, Fearon Conor, Fieg Elizabeth L, Fogel Brent L, Forman Eva B, Fox Rachel G, Fox Rachel G, Gahl William A, Galosi Serena, Gonzalez Victoria, Graves Tracey D, Gregory Allison, Hallett Mark, Hasegawa Harutomo, Hayflick Susan J, Hamosh Ada, Hully Marie, Jansen Sandra, Jeong Suh Young, Krier Joel B, Krystal Sidney, Kumar Kishore R, Laurencin Chloé, Lee Hane, Lesca Gaetan, François Laurence Lion, Lynch Timothy, Mahant Neil, Martinez-Agosto Julian A, Milesi Christophe, Mills Kelly A, Mondain Michel, Morales-Briceno Hugo, Morales-Briceno Hugo, Ostergaard John R, Pal Swasti, Pallais Juan C, Pavillard Frédérique, Perrigault Pierre-Francois, Petersen Andrea K, Polo Gustavo, Poulen Gaetan, Rinne Tuula, Roujeau Thomas, Rogers Caleb, Roubertie Agathe, Sahagian Michelle, Schaefer Elise, Selim Laila, Selway Richard, Sharma Nutan, Signer Rebecca, Soldatos Ariane G, Stevenson David A, Stewart Fiona, Tchan Michel, Tchan Michel, Verma Ishwar C, de Vries Bert B A, Wilson Jenny L, Wong Derek A, Zaitoun Raghda, Zhen Dolly, Znaczko Anna, Dale Russell C, de Gusmão Claudio M, Friedman Jennifer, Fung Victor S C, King Mary D, Mohammad Shekeeb S, Rohena Luis, Waugh Jeff L, Toro Camilo, Raymond F Lucy, Topf Maya, Coubes Philippe, Gorman Kathleen M, Kurian Manju A KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Brain : a journal of neurology, 2020; 143(11): 3242-3261.
- Burdekin Emma D, Fogel Brent L, Jeste Shafali S, Martinez Julian, Rexach Jessica E, DiStefano Charlotte, Hyde Carly, Safari Tabitha, Wilson Rujuta B The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240) Journal of child neurology, 2020; 35(14): 953-962.
- Diaz Frank, Khosa Shaweta, Niyazov Dmitriy, Lee Hane, Person Richard, Morrow Michelle M, Signer Rebecca, Dorrani Naghmeh, Zheng Allison, Herzog Matthew, Freundlich Robert, Freundlich Robert, Birath J Brandon, Cervantes-Manzo Yurivia, Martinez-Agosto Julian A, Palmer Christina, Nelson Stanley F, Fogel Brent L, Mishra Shri K Novel NUDT2 variant causes intellectual disability and polyneuropathy Annals of clinical and translational neurology, 2020; 7(11): 2320-2325.
- Ringman John M, Qiao Yuchuan, Garbin Alexander, Fisher Beth E, Fogel Brent, Watari Knoell Kecia, Chui Helena C, Shi Yonggang, Rexach Jessica E Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the Neurocase, 2020; 26(5): 299-304.
- McEachin Zachary T, Gendron Tania F, Raj Nisha, García-Murias María, Banerjee Anwesha, Purcell Ryan H, Ward Patricia J, Todd Tiffany W, Merritt-Garza Megan E, Jansen-West Karen, Hales Chadwick M, García-Sobrino Tania, Quintáns Beatriz, Holler Christopher J, Taylor Georgia, San Millán Beatriz, Teijeira Susana, Yamashita Toru, Ohkubo Ryuichi, Boulis Nicholas M, Xu Chongchong, Wen Zhexing, Streichenberger Nathalie, Streichenberger Nathalie, Fogel Brent L, Kukar Thomas, Abe Koji, Dickson Dennis W, Arias Manuel, Glass Jonathan D, Jiang Jie, Tansey Malú G, Sobrido María-Jesús, Petrucelli Leonard, Rossoll Wilfried, Bassell Gary J Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36 Neuron, 2020; 107(2): 292-305.e6.
- Aboud Syriani Dona, Wong Darice, Andani Sameer, De Gusmao Claudio M, Mao Yuanming, Sanyoura May, Glotzer Giacomo, Lockhart Paul J, Hassin-Baer Sharon, Khurana Vikram, Gomez Christopher M, Perlman Susan, Das Soma, Fogel Brent L Prevalence of Neurology. Genetics, 2020; 6(3): e440.
- Lee Hane, Huang Alden Y, Wang Lee-Kai, Yoon Amanda J, Renteria Genecee, Eskin Ascia, Signer Rebecca H, Dorrani Naghmeh, Nieves-Rodriguez Shirley, Wan Jijun, Douine Emilie D, Woods Jeremy D, Dell’Angelica Esteban C, Fogel Brent L, Martin Martin G, Butte Manish J, Parker Neil H, Wang Richard T, Shieh Perry B, Wong Derek A, Gallant Natalie, Singh Kathryn E, Tavyev Asher Y Jane, Sinsheimer Janet S, Krakow Deborah, Loo Sandra K, Allard Patrick, Papp Jeanette C, Papp Jeanette C, Palmer Christina G S, Martinez-Agosto Julian A, Nelson Stanley F Diagnostic utility of transcriptome sequencing for rare Mendelian diseases Genetics in medicine : official journal of the American College of Medical Genetics, 2020; 22(3): 490-499.
- Ngo Kathie J, Rexach Jessica E, Lee Hane, Petty Lauren E, Perlman Susan, Valera Juliana M, Deignan Joshua L, Mao Yuanming, Aker Mamdouh, Posey Jennifer E, Jhangiani Shalini N, Coban-Akdemir Zeynep H, Boerwinkle Eric, Muzny Donna, Nelson Alexandra B, Hassin-Baer Sharon, Poke Gemma, Neas Katherine, Geschwind Michael D, Grody Wayne W, Gibbs Richard, Geschwind Daniel H, Lupski James R, Below Jennifer E, Nelson Stanley F, Fogel Brent L A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders Human mutation, 2020; 41(2): 487-501.
- Xiao Changrui, Binkley Elaine M, Rexach Jessica, Knight-Johnson Amy, Khemani Pravin, Fogel Brent L, Das Soma, Stone Edwin M, Gomez Christopher M A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an Neurology. Genetics, 2019; 5(5): e357.
- Rafehi Haloom, Szmulewicz David J, Bennett Mark F, Sobreira Nara L M, Pope Kate, Smith Katherine R, Gillies Greta, Diakumis Peter, Dolzhenko Egor, Eberle Michael A, Barcina María García, Breen David P, Chancellor Andrew M, Cremer Phillip D, Delatycki Martin B, Fogel Brent L, Hackett Anna, Halmagyi G Michael, Kapetanovic Solange, Lang Anthony, Mossman Stuart, Mu Weiyi, Patrikios Peter, Perlman Susan L, Rosemergy Ian, Storey Elsdon, Watson Shaun R D, Wilson Michael A, Zee David S, Valle David, Amor David J, Bahlo Melanie, Lockhart Paul J Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics, 2019; 105(1): 151-165.
- Becherel Olivier J, Fogel Brent L, Zeitlin Scott I, Samaratunga Hemamali, Greaney Jessica, Homer Hayden, Lavin Martin F Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2) Cerebellum (London, England), 2019; 18(3): 448-456.
- Rexach Jessica, Lee Hane, Martinez-Agosto Julian A, Németh Andrea H, Fogel Brent L Clinical application of next-generation sequencing to the practice of neurology The Lancet. Neurology, 2019; 18(5): 492-503.
- Lee Hane, Martinez-Agosto Julian A, Rexach Jessica, Fogel Brent L Next generation sequencing in clinical diagnosis The Lancet. Neurology, 2019; 18(5): 426.
- Paucar Martin, Taylor Alexander M R, Hadjivassiliou Marios, Fogel Brent L, Svenningsson Per Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature Tremor and other hyperkinetic movements (New York, N.Y.), 2019; 9(2): 14.
- Ngo Kathie J, Poke Gemma, Neas Katherine, Fogel Brent L Spinocerebellar Ataxia type 29 in a family of Māori descent Cerebellum & ataxias, 2019; 6(2): 14.
- Ramos Eliana Marisa, Carecchio Miryam, Lemos Roberta, Ferreira Joana, Legati Andrea, Sears Renee Louise, Hsu Sandy Chan, Panteghini Celeste, Magistrelli Luca, Salsano Ettore, Esposito Silvia, Taroni Franco, Richard Anne-Claire, Tranchant Christine, Anheim Mathieu, Ayrignac Xavier, Goizet Cyril, Vidailhet Marie, Maltete David, Wallon David, Frebourg Thierry, Pimentel Lylyan, Geschwind Daniel H, Vanakker Olivier, Galasko Douglas, Fogel Brent L, Innes A Micheil, Ross Alison, Dobyns William B, Alcantara Diana, O’Driscoll Mark, Hannequin Didier, Campion Dominique, Campion Dominique, Oliveira João R, Garavaglia Barbara, Coppola Giovanni, Nicolas Gaël Primary brain calcification: an international study reporting novel variants and associated phenotypes European journal of human genetics : EJHG, 2018; 26(10): 1462-1477.
- Fogel Brent L Autosomal-recessive cerebellar ataxias Handbook of clinical neurology, 2018; 147(3): 187-209.
- Fogel Brent L Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene Annals of neurology, 2018; .
- Ngo Kathie, Aker Mamdouh, Petty Lauren E, Chen Jason, Cavalcanti Francesca, Nelson Alexandra B, Hassin-Baer Sharon, Geschwind Michael D, Perlman Susan, Italiano Domenico, Laganà Angelina, Cavallaro Sebastiano, Coppola Giovanni, Below Jennifer E, Fogel Brent L Expanding the global prevalence of spinocerebellar ataxia type 42 Neurology. Genetics, 2018; 4(3): e232.
- Fogel Brent L Genetic and genomic testing for neurologic disease in clinical practice Handbook of clinical neurology, 2018; 147(3): 11-22.
- Fan Judy, Fogel Brent L Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency Cerebellum & ataxias, 2018; 5(5): 12.
- Valera Juliana M, Diaz Tatyana, Petty Lauren E, Quintáns Beatriz, Yáñez Zuleima, Boerwinkle Eric, Muzny Donna, Akhmedov Dmitry, Berdeaux Rebecca, Sobrido Maria J, Gibbs Richard, Lupski James R, Geschwind Daniel H, Perlman Susan, Below Jennifer E, Fogel Brent L Prevalence of spinocerebellar ataxia 36 in a US population Neurology. Genetics, 2017; 3(4): e174.
- Zambonin Jessica L, Bellomo Allison, Ben-Pazi Hilla, Everman David B, Frazer Lee M, Geraghty Michael T, Harper Amy D, Jones Julie R, Kamien Benjamin, Kernohan Kristin, Koenig Mary Kay, Lines Matthew, Palmer Elizabeth Emma, Richardson Randal, Segel Reeval, Tarnopolsky Mark, Vanstone Jason R, Gibbons Melissa, Collins Abigail, Fogel Brent L, Fogel Brent L, Dudding-Byth Tracy, Boycott Kym M Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Orphanet journal of rare diseases, 2017; 12(1): 121.
- Wolf Susan M, Thyagarajan Bharat, Fogel Brent L The need to develop a patient-centered precision medicine model for adults with chronic disability Expert review of molecular diagnostics, 2017; 17(5): 415-418.
- Berto Stefano, Usui Noriyoshi, Konopka Genevieve, Fogel Brent L ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism Human molecular genetics, 2016; 25(12): 2451-2464.
- Vanderver Adeline, Simons Cas, Helman Guy, Crawford Joanna, Wolf Nicole I, Bernard Geneviève, Pizzino Amy, Schmidt Johanna L, Takanohashi Asako, Miller David, Khouzam Amirah, Rajan Vani, Ramos Erica, Chowdhury Shimul, Hambuch Tina, Ru Kelin, Baillie Gregory J, Grimmond Sean M, Caldovic Ljubica, Devaney Joseph, Bloom Miriam, Evans Sarah H, Murphy Jennifer L P, McNeill Nathan, Fogel Brent L, Fogel Brent L, Schiffmann Raphael, van der Knaap Marjo S, Taft Ryan J Whole exome sequencing in patients with white matter abnormalities Annals of neurology, 2016; .
- Fogel Brent L, Satya-Murti Saty, Cohen Bruce H Clinical exome sequencing in neurologic disease Neurology. Clinical practice, 2016; 6(2): 164-176.
- Aranca Tanya V, Jones Tracy M, Shaw Jessica D, Staffetti Joseph S, Ashizawa Tetsuo, Kuo Sheng-Han, Fogel Brent L, Wilmot George R, Perlman Susan L, Onyike Chiadi U, Ying Sarah H, Zesiewicz Theresa A Emerging therapies in Friedreich’s ataxia Neurodegenerative disease management, 2016; 6(1): 49-65.
- Becherel Olivier J, Sun Jane, Yeo Abrey J, Nayler Sam, Fogel Brent L, Gao Fuying, Coppola Giovanni, Criscuolo Chiara, De Michele Giuseppe, Wolvetang Ernst, Lavin Martin F A new model to study neurodegeneration in ataxia oculomotor apraxia type 2 Human molecular genetics, 2015; 24(20): 5759-74.
- Fogel Brent L, Lee Hane, Strom Samuel P, Deignan Joshua L, Nelson Stanley F Clinical exome sequencing in neurogenetic and neuropsychiatric disorders Annals of the New York Academy of Sciences, 2015; 24(20): .
- Legati Andrea, Giovannini Donatella, Nicolas Gaël, López-Sánchez Uriel, Quintáns Beatriz, Oliveira João R M, Sears Renee L, Ramos Eliana Marisa, Spiteri Elizabeth, Sobrido MarÃa-Jesús, Carracedo Ãngel, Castro-Fernández Cristina, Cubizolle Stéphanie, Fogel Brent L, Goizet Cyril, Jen Joanna C, Kirdlarp Suppachok, Lang Anthony E, Miedzybrodzka Zosia, Mitarnun Witoon, Paucar Martin, Paulson Henry, Pariente Jérémie, Richard Anne-Claire, Salins Naomi S, Simpson Sheila A, Striano Pasquale, Svenningsson Per, Tison François, Unni Vivek K, Vanakker Olivier, Wessels Marja W, Wetchaphanphesat Suppachok, Yang Michele, Boller Francois, Campion Dominique, Hannequin Didier, Sitbon Marc, Geschwind Daniel H, Battini Jean-Luc, Coppola Giovanni Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Nature genetics, 2015; 47(6): 579-81.
- Fogel Brent L, Hanson Sonya M, Becker Esther B E Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Movement disorders : official journal of the Movement Disorder Society, 2014; .
- Lee Hane, Deignan Joshua L, Dorrani Naghmeh, Strom Samuel P, Kantarci Sibel, Quintero-Rivera Fabiola, Das Kingshuk, Toy Traci, Harry Bret, Yourshaw Michael, Fox Michelle, Fogel Brent L, Martinez-Agosto Julian A, Wong Derek A, Chang Vivian Y, Shieh Perry B, Palmer Christina G S, Dipple Katrina M, Grody Wayne W, Vilain Eric, Nelson Stanley F Clinical exome sequencing for genetic identification of rare Mendelian disorders JAMA, 2014; 312(18): 1880-7.
- Fogel Brent L, Lee Hane, Deignan Joshua L, Strom Samuel P, Kantarci Sibel, Wang Xizhe, Quintero-Rivera Fabiola, Vilain Eric, Grody Wayne W, Perlman Susan, Geschwind Daniel H, Nelson Stanley F Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia JAMA neurology, 2014; 71(10): 1237-46.
- Fogel Brent L, Cho Ellen, Wahnich Amanda, Gao Fuying, Becherel Olivier J, Wang Xizhe, Fike Francesca, Chen Leslie, Criscuolo Chiara, De Michele Giuseppe, Filla Alessandro, Collins Abigail, Hahn Angelika F, Gatti Richard A, Konopka Genevieve, Perlman Susan, Lavin Martin F, Geschwind Daniel H, Coppola Giovanni Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 Human molecular genetics, 2014; 23(18): 4758-69.
- Fogel Brent L, Clark Mary C, Geschwind Daniel H The neurogenetics of atypical parkinsonian disorders Seminars in neurology, 2014; 34(2): 217-24.
- Shakkottai Vikram G, Fogel Brent L Clinical neurogenetics: autosomal dominant spinocerebellar ataxia Neurologic clinics, 2013; 31(4): 987-1007.
- Bill Brent R, Lowe Jennifer K, Dybuncio Christina T, Fogel Brent L Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder International review of neurobiology, 2013; 113(4): 251-67.
- Fogel Brent L, Vickrey Barbara G, Walton-Wetzel Jenny, Lieber Eli, Browner Carole H Utilization of Genetic Testing Prior to Subspecialist Referral for Cerebellar Ataxia Genetic testing and molecular biomarkers, 2013; .
- Giorgio Elisa, Rolyan Harshvardhan, Kropp Laura, Chakka Anish Baswanth, Yatsenko Svetlana, Gregorio Eleonora Di, Lacerenza Daniela, Vaula Giovanna, Talarico Flavia, Mandich Paola, Toro Camilo, Pierre Eleonore Eymard, Labauge Pierre, Capellari Sabina, Cortelli Pietro, Vairo Filippo Pinto, Miguel Diego, Stubbolo Danielle, Marques Lourenco Charles, Gahl William, Boespflug-Tanguy Odile, Melberg Atle, Hassin-Baer Sharon, Cohen Oren S, Pjontek Rastislav, Grau Armin, Klopstock Thomas, Fogel Brent, Meijer Inge, Rouleau Guy, Bouchard Jean-Pierre L, Ganapathiraju Madhavi, Vanderver Adeline, Dahl Niklas, Hobson Grace, Brusco Alfredo, Brussino Alessandro, Padiath Quasar Saleem Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression Human mutation, 2013; .
- Hsu Sandy Chan, Sears Renee L, Lemos Roberta R, Quintáns Beatriz, Huang Alden, Spiteri Elizabeth, Nevarez Lisette, Mamah Catherine, Zatz Mayana, Pierce Kerrie D, Fullerton Janice M, Adair John C, Berner Jon E, Bower Matthew, Brodaty Henry, Carmona Olga, Dobrici? Valerija, Fogel Brent L, García-Estevez Daniel, Goldman Jill, Goudreau John L, Hopfer Suellen, Jankovi? Milena, Jaumà Serge, Jen Joanna C, Kirdlarp Suppachok, Klepper Joerg, Kosti? Vladimir, Lang Anthony E, Linglart Agnès, Maisenbacher Melissa K, Manyam Bala V, Mazzoni Pietro, Miedzybrodzka Zofia, Mitarnun Witoon, Mitchell Philip B, Mueller Jennifer, Novakovi? Ivana, Paucar Martin, Paulson Henry, Simpson Sheila A, Svenningsson Per, Tuite Paul, Vitek Jerrold, Wetchaphanphesat Suppachok, Williams Charles, Yang Michele, Schofield Peter R, de Oliveira João R M, Sobrido María-Jesús, Geschwind Daniel H, Coppola Giovanni Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Neurogenetics, 2013; 14(1): 11-22.
- Fogel Brent L, Baker Cameron, Curnow Andrew, Perlman Susan L, Geschwind Daniel H, Coppola Giovanni Mutations in PDYN are not responsible for multiple system atrophy Journal of neurology, 2013; 14(1): .
- Fogel Brent L, Pribadi Mochtar, Pi Sarah, Perlman Susan L, Geschwind Daniel H, Coppola Giovanni C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia Movement disorders : official journal of the Movement Disorder Society, 2012; .
- Mochel Fanny, Schiffmann Raphael, Steenweg Marjan E, Akman Hasan O, Wallace Mary, Sedel Frédéric, Laforêt Pascal, Levy Richard, Powers J Michael, Demeret Sophie, Maisonobe Thierry, Froissart Roseline, Da Nobrega Bruno Barcelos, Fogel Brent L, Natowicz Marvin R, Lubetzki Catherine, Durr Alexandra, Brice Alexis, Rosenmann Hanna, Barash Varda, Kakhlon Or, Gomori J Moshe, van der Knaap Marjo S, Lossos Alexander Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings Annals of neurology, 2012; 72(3): 433-41.
- Cho Ellen, Fogel Brent L A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation within a SPTBN2 Spectrin Repeat Cerebellum (London, England), 2012; 72(3): .
- Fogel Brent L Childhood Cerebellar Ataxia Journal of child neurology, 2012; .
- Fogel Brent L, Wexler Eric, Wahnich Amanda, Friedrich Tara, Vijayendran Chandran, Gao Fuying, Parikshak Neelroop, Konopka Genevieve, Geschwind Daniel H RBFOX1 Regulates Both Splicing and Transcriptional Networks in Human Neuronal Development Human molecular genetics, 2012; .
- Fogel Brent L, Lee Ji Yong, Lane Jessica, Wahnich Amanda, Chan Sandy, Huang Alden, Osborn Greg E, Klein Eric, Mamah Catherine, Perlman Susan, Geschwind Daniel H, Coppola Giovanni Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia Movement disorders : official journal of the Movement Disorder Society, 2012; 27(3): 442-6.
- Wexler Eric, Fogel Brent L New-onset psychosis in a patient with spinocerebellar ataxia type 10 The American journal of psychiatry, 2011; 168(12): 1339-40.
- Becker Esther B E, Fogel Brent L, Rajakulendran Sanjeev, Dulneva Anna, Hanna Michael G, Perlman Susan L, Geschwind Daniel H, Davies Kay E Candidate screening of the TRPC3 gene in cerebellar ataxia Cerebellum (London, England), 2011; 10(2): 296-9.
- Fogel Brent L Interpretation of genetic testing: variants of unknown significance Continuum (Minneapolis, Minn.), 2011; 17(2 Neurogenetics): 347-52.
- Fogel Brent L, Lee Ji Yong, Perlman Susan Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2 Cerebellum (London, England), 2009; 8(4): 448-53.
- Fogel Brent L, Young Pari, Thompson Arthur R, Perlman Susan A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes Neurogenetics, 2008; 9(3): 215-8.
- Fogel Brent L, Perlman Susan Clinical features and molecular genetics of autosomal recessive cerebellar ataxias Lancet neurology, 2007; 6(3): 245-57.
- Fogel Brent L, Perlman Susan Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2 Neurology, 2006; 67(11): 2083-4.
- Fogel Brent L, Perlman Susan An approach to the patient with late-onset cerebellar ataxia Nature clinical practice. Neurology, 2006; 2(11): 629-35; quiz 1 p following 635.
- Fogel Brent, Cardenas Doris, Ovbiagele Bruce Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus The neurologist, 2006; 12(5): 271-3.
- Fogel Brent, Wu Mark, Kremen Sarah, Murthy Kolar, Jackson George, Vanek Zeba Creutzfeldt-Jakob disease presenting with alien limb sign Movement disorders : official journal of the Movement Disorder Society, 2006; 21(7): 1040-2.
- Fogel Brent L, McNally Lisa M, McNally Mark T Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element Nucleic acids research, 2002; 30(3): 810-7.
- Fogel B L, McNally M T A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus The Journal of biological chemistry, 2000; 275(41): 32371-8.
- Fogel B L, McNally M T Trace contamination following reuse of anion-exchange DNA purification resins BioTechniques, 2000; 28(2): 299-302.
Publications
- Beijer D, Fogel BL, Beltran S, Danzi MC, N?meth AH, Z?chner S, Synofzik M, AGI Ataxia NGS genomics, platforms Working Group. Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.. Cerebellum (London, England), 2023.
- Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Br?ggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.. American journal of human genetics, 2022.
- Klockgether T, Ashizawa T, Brais B, Chuang R, Durr A, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Pedroso JL, Soong BW, Szmulewicz D, Graessner H, Synofzik M, Ataxia Global Initiative (AGI). Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.. Movement disorders : official journal of the Movement Disorder Society, 2022.
- Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, Bennett CL, La Spada AR, Fogel BL, Yoon G. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.. Acta neuropathologica communications, 2021.
- Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. Correction to: a-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.. Acta neuropathologica, 2021.
- Wong DY, Fogel BL. Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report.. Journal of medical case reports, 2021.
- Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. a-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.. Acta neuropathologica, 2021.
- Hinman JD, Ngo KJ, Kim D, Chen C, Abraham CR, Ghanbari M, Ikram MA, Kushner SA, Kawaguchi R, Coppola G, Goth K, Bellusci S, Hernandez I, Kosik KS, Fogel BL. miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy.. Human molecular genetics, 2021.
- Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, S?bire G, Louren?o CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Str?mme P, de Grauw T, Gieruszczak-Bialek D, Kr?geloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melan?on S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, ?zkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, S?nderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, V?zquez-L?pez M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno G?, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.. The Journal of clinical endocrinology and metabolism, 2021.
- Maple-Gr?dem J, Paul KC, Dalen I, Ngo KJ, Wong D, Macleod AD, Counsell CE, B?ckstr?m D, Forsgren L, Tysnes OB, Kusters CDJ, Fogel BL, Bronstein JM, Ritz B, Alves G. Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts.. Journal of Parkinson's disease, 2021.
- Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, Fran?ois LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusm?o CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.. Brain : a journal of neurology, 2020.
- 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. Novel NUDT2 variant causes intellectual disability and polyneuropathy.. Annals of clinical and translational neurology, 2020.
- Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene.. Neurocase, 2020.
- Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).. Journal of child neurology, 2020.
- Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.. Neurology. Genetics, 2020.
- McEachin ZT, Gendron TF, Raj N, Garc?a-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, Garc?a-Sobrino T, Quint?ns B, Holler CJ, Taylor G, San Mill?n B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N, Neuro?CEB Neuropathology Network, Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido MJ, Petrucelli L, Rossoll W, Bassell GJ. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.. Neuron, 2020.
- Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.. Human mutation, 2019.
- 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. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.. Genetics in medicine : official journal of the American College of Medical Genetics, 2019.
- Ngo KJ, Poke G, Neas K, Fogel BL. Spinocerebellar Ataxia type 29 in a family of Maori descent.. Cerebellum & ataxias, 2019.
- Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.. Tremor and other hyperkinetic movements (New York, N.Y.), 2019.
- Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.. Neurology. Genetics, 2019.
- Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.. American journal of human genetics, 2019.
- Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).. Cerebellum (London, England), 2019.
- Rexach J, Lee H, Martinez-Agosto JA, N?meth AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology.. The Lancet. Neurology, 2019.
- Lee H, Martinez-Agosto JA, Rexach J, Fogel BL. Next generation sequencing in clinical diagnosis.. The Lancet. Neurology, 2019.
- Fan J, Fogel BL. Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency.. Cerebellum & ataxias, 2018.
- Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D, French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes.. European journal of human genetics : EJHG, 2018.
- Fogel BL. Collaborative science unites researchers and a novel spastic ataxia gene.. Annals of neurology, 2018.
- Ngo K, Aker M, Petty LE, Chen J, Cavalcanti F, Nelson AB, Hassin-Baer S, Geschwind MD, Perlman S, Italiano D, Laganà A, Cavallaro S, Coppola G, Below JE, Fogel BL. Expanding the global prevalence of spinocerebellar ataxia type 42.. Neurology. Genetics, 2018.
- Fogel BL. Autosomal-recessive cerebellar ataxias.. Handbook of clinical neurology, 2018.
- Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice.. Handbook of clinical neurology, 2018.
- Valera JM, Diaz T, Petty LE, Quint?ns B, Y??ez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population.. Neurology. Genetics, 2017.
- Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.. Orphanet journal of rare diseases, 2017.
- Wolf SM, Thyagarajan B, Fogel BL. The need to develop a patient-centered precision medicine model for adults with chronic disability.. Expert review of molecular diagnostics, 2017.
- Berto S, Usui N, Konopka G, Fogel BL. ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.. Human molecular genetics, 2016.
- Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL, Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities.. Annals of neurology, 2016.
- Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease.. Neurology. Clinical practice, 2016.
- Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Emerging therapies in Friedreich's ataxia.. Neurodegenerative disease management, 2016.
- Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.. Annals of the New York Academy of Sciences, 2015.
- Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.. Human molecular genetics, 2015.
- Legati A, Giovannini D, Nicolas G, L?pez-S?nchez U, Quint?ns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo ?, Castro-Fern?ndez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.. Nature genetics, 2015.
- Fogel BL, Hanson SM, Becker EB. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?. Movement disorders : official journal of the Movement Disorder Society, 2014.
- 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. Clinical exome sequencing for genetic identification of rare Mendelian disorders.. JAMA, 2014.
- Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.. JAMA neurology, 2014.
- Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonian disorders.. Seminars in neurology, 2014.
- Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.. Human molecular genetics, 2014.
- Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.. Neurologic clinics, 2013.
- Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.. Genetic testing and molecular biomarkers, 2013.
- Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.. Human mutation, 2013.
- Cho E, Fogel BL. A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.. Cerebellum (London, England), 2013.
- Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Mutations in PDYN are not responsible for multiple system atrophy.. Journal of neurology, 2013.
- Hsu SC, Sears RL, Lemos RR, Quint?ns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, Garc?a-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jaum? S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.. Neurogenetics, 2013.
- Bill BR, Lowe JK, Dybuncio CT, Fogel BL. Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.. International review of neurobiology, 2013.
- Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.. Movement disorders : official journal of the Movement Disorder Society, 2012.
- Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Lafor?t P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.. Annals of neurology, 2012.
- Fogel BL. Childhood cerebellar ataxia.. Journal of child neurology, 2012.
- Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.. Human molecular genetics, 2012.
- Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.. Movement disorders : official journal of the Movement Disorder Society, 2012.
- Wexler E, Fogel BL. New-onset psychosis in a patient with spinocerebellar ataxia type 10.. The American journal of psychiatry, 2011.
- Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Candidate screening of the TRPC3 gene in cerebellar ataxia.. Cerebellum (London, England), 2011.
- Fogel BL. Interpretation of genetic testing: variants of unknown significance.. Continuum (Minneapolis, Minn.), 2011.
- Fogel BL, Lee JY, Perlman S. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.. Cerebellum (London, England), 2009.
- Fogel BL, Young P, Thompson AR, Perlman S. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.. Neurogenetics, 2008.
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.. The Lancet. Neurology, 2007.
- Fogel BL, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.. Neurology, 2006.
- Fogel BL, Perlman S. An approach to the patient with late-onset cerebellar ataxia.. Nature clinical practice. Neurology, 2006.
- Fogel B, Cardenas D, Ovbiagele B. Magnetic resonance imaging abnormalities in the corpus callosum of a patient with neuropsychiatric lupus.. The neurologist, 2006.
- Fogel B, Wu M, Kremen S, Murthy K, Jackson G, Vanek Z. Creutzfeldt-Jakob disease presenting with alien limb sign.. Movement disorders : official journal of the Movement Disorder Society, 2006.
- Fogel BL, McNally LM, McNally MT. Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element.. Nucleic acids research, 2002.
- Fogel BL, McNally MT. A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus.. The Journal of biological chemistry, 2000.
- Fogel BL, McNally MT. Trace contamination following reuse of anion-exchange DNA purification resins.. BioTechniques, 2000.