Search Results - "Heiman, Gary"

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study by Bressman, Susan B, MD, Raymond, Deborah, MS, Fuchs, Tania, PhD, Heiman, Gary A, PhD, Ozelius, Laurie J, PhD, Saunders-Pullman, Rachel, MD

“…Summary Background Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish–Mennonite…”
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Reproductive male partner testing when the female is identified to be a genetic disease carrier by Simone, Laurie, Khan, Shama, Ciarlariello, Molly, Lin, Julia, Trackman, Sarah, Heiman, Gary A., Ashkinadze, Elena

“…Objective To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand…”
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Polygenic and environmental determinants of tics in the Avon Longitudinal Study of Parents and Children by Abdulkadir, Mohamed, Tischfield, Jay A., Heiman, Gary A., Hoekstra, Pieter J., Dietrich, Andrea

“…Tourette syndrome (TS) is caused by multiple genetic and environmental factors. Yet, little is known about the interplay of these factors in the occurrence of…”
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Clinical and EEG factors associated with antiseizure medication resistance in idiopathic generalized epilepsy by Kamitaki, Brad K., Janmohamed, Mubeen, Kandula, Padmaja, Elder, Christopher, Mani, Ram, Wong, Stephen, Perucca, Piero, O’Brien, Terence J., Lin, Haiqun, Heiman, Gary A., Choi, Hyunmi

“…Objective We sought to determine which combination of clinical and electroencephalography (EEG) characteristics differentiate between an antiseizure medication…”
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Genetic counseling certificate program: A program evaluation of undergraduate exposure to genetic counseling by McGraw, Erin, Rispoli, Jessica, Horner, Michele B., Heiman, Gary A.

“…Undergraduate genetic counseling exposure can generate interest in a growing field, help students prepare to apply to graduate‐level programs, and introduce…”
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Polygenic Risk Scores Derived From a Tourette Syndrome Genome-wide Association Study Predict Presence of Tics in the Avon Longitudinal Study of Parents and Children Cohort by Abdulkadir, Mohamed, Mathews, Carol A., Scharf, Jeremiah M., Yu, Dongmei, Tischfield, Jay A., Heiman, Gary A., Hoekstra, Pieter J., Dietrich, Andrea

“…Tourette syndrome (TS) has a well-established genetic background, but its genetic architecture remains largely unknown. The authors investigated the role of…”
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Mood disorders in familial epilepsy: A test of shared etiology by Insel, Beverly J., Ottman, Ruth, Heiman, Gary A.

“…Summary Objective Mood disorders are the most common comorbid conditions in epilepsy, but the cause remains unclear. One possible explanation is a shared…”
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Human mutations in high-confidence Tourette disorder genes affect sensorimotor behavior, reward learning, and striatal dopamine in mice by Nasello, Cara, Poppi, Lauren A, Wu, Junbing, Kowalski, Tess F, Thackray, Joshua K, Wang, Riley, Persaud, Angelina, Mahboob, Mariam, Lin, Sherry, Spaseska, Rodna, Johnson, C K, Gordon, Derek, Tissir, Fadel, Heiman, Gary A, Tischfield, Jay A, Bocarsly, Miriam, Tischfield, Max A

“…Tourette disorder (TD) is poorly understood, despite affecting 1/160 children. A lack of animal models possessing construct, face, and predictive validity…”
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Development and validation of a predictive model of drug-resistant genetic generalized epilepsy by Choi, Hyunmi, Detyniecki, Kamil, Bazil, Carl, Thornton, Suzanne, Crosta, Peter, Tolba, Hatem, Muneeb, Manahil, Hirsch, Lawrence J., Heinzen, Erin L., Sen, Arjune, Depondt, Chantal, Perucca, Piero, Heiman, Gary A.

“…OBJECTIVETo develop and validate a clinical prediction model for antiepileptic drug (AED)–resistant genetic generalized epilepsy (GGE). METHODWe performed a…”
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L-Histidine Decarboxylase and Tourette's Syndrome by Ercan-Sencicek, A. Gulhan, Stillman, Althea A, Ghosh, Ananda K, Bilguvar, Kaya, O'Roak, Brian J, Mason, Christopher E, Abbott, Thomas, Gupta, Abha, King, Robert A, Pauls, David L, Tischfield, Jay A, Heiman, Gary A, Singer, Harvey S, Gilbert, Donald L, Hoekstra, Pieter J, Morgan, Thomas M, Loring, Erin, Yasuno, Katsuhito, Fernandez, Thomas, Sanders, Stephan, Louvi, Angeliki, Cho, Judy H, Mane, Shrikant, Colangelo, Christopher M, Biederer, Thomas, Lifton, Richard P, Gunel, Murat, State, Matthew W

“…Susceptibility to Tourette's syndrome is known to have a genetic influence. This study, of a nonconsanguineous family in which the father and his eight…”
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Rate of manifesting carriers and other unexpected findings on carrier screening by Clevenger, Sydney K., Brandt, Justin S., Khan, Shama P., Shingala, Pranali, Carrick, Jillian, Aluwalia, Ruchi, Heiman, Gary A., Ashkinadze, Elena

“…Objectives To ascertain the rate of unexpected findings on carrier screening (CS) and assess whether implications are disclosed to patients. Methods We…”
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Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families by Cao, Xiaolong, Zhang, Yeting, Abdulkadir, Mohamed, Deng, Li, Fernandez, Thomas V., Garcia-Delgar, Blanca, Hagstrøm, Julie, Hoekstra, Pieter J., King, Robert A., Koesterich, Justin, Kuperman, Samuel, Morer, Astrid, Nasello, Cara, Plessen, Kerstin J., Thackray, Joshua K., Zhou, Lisheng, Dietrich, Andrea, Tischfield, Jay A., Heiman, Gary A., Xing, Jinchuan

“…Tourette’s Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless,…”
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Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism by Fernandez, Thomas V, Sanders, Stephan J, Yurkiewicz, Ilana R, Ercan-Sencicek, A. Gulhan, Kim, Young-Shin, Fishman, Daniel O, Raubeson, Melanie J, Song, Youeun, Yasuno, Katsuhito, Ho, Winson S.C, Bilguvar, Kaya, Glessner, Joseph, Chu, Su Hee, Leckman, James F, King, Robert A, Gilbert, Donald L, Heiman, Gary A, Tischfield, Jay A, Hoekstra, Pieter J, Devlin, Bernie, Hakonarson, Hakon, Mane, Shrikant M, Günel, Murat, State, Matthew W

“…Background Studies of copy number variation (CNV) have characterized loci and molecular pathways in a range of neuropsychiatric conditions. We analyzed rare…”
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Drug‐resistant epilepsy in adults: Outcome trajectories after failure of two medications by Choi, Hyunmi, Hayat, Matthew J., Zhang, Ruiqi, Hirsch, Lawrence J., Bazil, Carl W., Mendiratta, Anil, Kato, Kenneth, Javed, Asif, Legge, Alexander W., Buchsbaum, Richard, Resor, Stanley, Heiman, Gary A.

“…Summary Objective To examine the seizure trajectories of adults with epilepsy developing drug‐resistant epilepsy (DRE) and to identify the predictors of…”
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Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling by Heiman, Gary A, Rispoli, Jessica, Seymour, Christine, Leckman, James F, King, Robert A, Fernandez, Thomas V

“…Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family…”
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Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies by Yu, Dongmei, Sul, Jae Hoon, Tsetsos, Fotis, Nawaz, Muhammad S, Huang, Alden Y, Zelaya, Ivette, Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M, Hirschtritt, Matthew E, Greenberg, Erica, Muller-Vahl, Kirsten R, Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy, Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L, Grados, Marco, Singer, Harvey S, Nöthen, Markus M, Hebebrand, Johannes, Hinney, Anke, King, Robert A, Fernandez, Thomas V, Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L, Rizzo, Renata, Lyon, Gholson J, McMahon, William M, Batterson, James R, Cath, Danielle C, Malaty, Irene A, Okun, Michael S, Berlin, Cheston, Woods, Douglas W, Lee, Paul C, Jankovic, Joseph, Robertson, Mary M, Gilbert, Donald L, Brown, Lawrence W, Coffey, Barbara J, Dietrich, Andrea, Hoekstra, Pieter J, Kuperman, Samuel, Zinner, Samuel H, Luðvigsson, Pétur, Sæmundsen, Evald, Thorarensen, Ólafur, Atzmon, Gil, Barzilai, Nir, Wagner, Michael, Moessner, Rainald, Ophoff, Roel, Pato, Carlos N, Pato, Michele T, Knowles, James A, Roffman, Joshua L, Smoller, Jordan W, Buckner, Randy L, Willsey, A. Jeremy, Tischfield, Jay A, Heiman, Gary A, Stefansson, Hreinn, Stefansson, Kári, Posthuma, Danielle, Cox, Nancy J, Pauls, David L, Freimer, Nelson B, Neale, Benjamin M, Davis, Lea K, Paschou, Peristera, Coppola, Giovanni, Mathews, Carol A, Scharf, Jeremiah M

“…Objective:Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic…”
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Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder by Moya, Pablo R., Wendland, Jens R., Rubenstein, Liza M., Timpano, Kiara R., Heiman, Gary A., Tischfield, Jay A., King, Robert A., Andrews, Anne M., Ramamoorthy, Samanda, McMahon, Francis J., Murphy, Dennis L.

“…ABSTRACT To evaluate the hypothesis that functionally over‐expressing alleles of the serotonin transporter (SERT) gene (solute carrier family 6, member 4,…”
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Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology by Alexander, John, Potamianou, Hera, Xing, Jinchuan, Deng, Li, Karagiannidis, Iordanis, Tsetsos, Fotis, Drineas, Petros, Tarnok, Zsanett, Rizzo, Renata, Wolanczyk, Tomasz, Farkas, Luca, Nagy, Peter, Szymanska, Urszula, Androutsos, Christos, Tsironi, Vaia, Koumoula, Anastasia, Barta, Csaba, Sandor, Paul, Barr, Cathy L, Tischfield, Jay, Paschou, Peristera, Heiman, Gary A, Georgitsi, Marianthi

“…Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of…”
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Seizure remission in adults with long-standing intractable epilepsy: An extended follow-up by Choi, Hyunmi, Heiman, Gary A, Munger Clary, Heidi, Etienne, Mill, Resor, Stanley R, Hauser, W. Allen

“…Summary Recent studies have provided much needed data on the probability of seizure remission among adults with chronic intractable epilepsy treated medically…”
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Genetic susceptibility and neurotransmitters in Tourette syndrome by Paschou, Peristera, Fernandez, Thomas V, Sharp, Frank, Heiman, Gary A, Hoekstra, Pieter J

“…Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the…”
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