Publications:
A selected list of publications:
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.
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.
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;
.
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.
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.
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.
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.
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.
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.