A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants
Zech, Michael, Bardakjian, Tanya M., Stoklosa, Malgorzata, Ploski, Rafal, Jech, Robert, Gonzalez‐Alegre, Pedro, Winkelmann, Juliane
Published in Movement disorders (01.02.2021)
Published in Movement disorders (01.02.2021)
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PPP2R5D Genetic Mutations and Early‐Onset Parkinsonism
Walker, Ian M., Riboldi, Giulietta M., Drummond, Patrick, Saade‐Lemus, Sandra, Martin‐Saavedra, Juan Sebastian, Frucht, Steven, Bardakjian, Tanya M., Gonzalez‐Alegre, Pedro, Deik, Andres
Published in Annals of neurology (01.01.2021)
Published in Annals of neurology (01.01.2021)
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Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation
Hsiao, Cheng-Tsung, Tropea, Thomas F., Fu, Ssu-Ju, Bardakjian, Tanya M., Gonzalez-Alegre, Pedro, Soong, Bing-Wen, Tang, Chih-Yung, Jeng, Chung-Jiuan
Published in International journal of molecular sciences (01.08.2021)
Published in International journal of molecular sciences (01.08.2021)
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Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy
Quinn, Colin, Moore, Steven A, Bardakjian, Tanya M, Karam, Chafic
Published in Neurology (08.11.2016)
Published in Neurology (08.11.2016)
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
Dratch, Laynie, Azage, Meron, Baldwin, Aaron, Johnson, Kelsey, Paul, Rachel A., Bardakjian, Tanya M., Michon, Sara-Claude, Amado, Defne A., Baer, Michael, Deik, Andres F., Elman, Lauren B., Gonzalez-Alegre, Pedro, Guo, Michael H., Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin, Tropea, Thomas F., Scherer, Steven S., Ellis, Colin A.
Published in Journal of neurology (01.02.2024)
Published in Journal of neurology (01.02.2024)
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Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
Narendra, Derek P, Isonaka, Risa, Nguyen, Diana, Schindler, Alice B, Kokkinis, Angela D, Ehrlich, Debra, Bardakjian, Tanya M, Goldstein, David S, Liang, Tsao-Wei, Gonzalez-Alegre, Pedro
Published in Neurology (04.06.2019)
Published in Neurology (04.06.2019)
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Temporal trends and yield of clinical diagnostic genetic testing in adult neurology
Guo, Michael H., Bardakjian, Tanya M., Brzozowski, Morgan R., Scherer, Steven S., Quinn, Colin, Elman, Lauren, Orthmann‐Murphy, Jennifer, Tropea, Thomas F., Ellis, Colin A., Gonzalez‐Alegre, Pedro
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Published in Human genetics (01.10.2011)
Published in Human genetics (01.10.2011)
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The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
Dratch, Laynie, Bardakjian, Tanya M, Johnson, Kelsey, Babaian, Nareen, Gonzalez-Alegre, Pedro, Elman, Lauren, Quinn, Colin, Guo, Michael H, Scherer, Steven S, Amado, Defne A
Published in Biology (Basel, Switzerland) (01.02.2024)
Published in Biology (Basel, Switzerland) (01.02.2024)
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The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria
Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie‐Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M., Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K., Grant, Andrew R., Helbig, Katherine L., Mefford, Heather C.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R
Published in PLoS genetics (01.12.2018)
Published in PLoS genetics (01.12.2018)
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Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
Narendra, Derek P, Isonaka, Risa, Nguyen, Diana, Schindler, Alice B, Kokkinis, Angela D, Ehrlich, Debra, Bardakjian, Tanya M, Goldstein, David S, Liang, Tsao-Wei, Gonzalez-Alegre, Pedro
Published in Neurology (26.05.2020)
Published in Neurology (26.05.2020)
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F, Slavotinek, Anne M
Published in Human molecular genetics (15.08.2013)
Published in Human molecular genetics (15.08.2013)
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Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
Reis, Linda M, Atilla, Huban, Kannu, Peter, Schneider, Adele, Thompson, Samuel, Bardakjian, Tanya, Semina, Elena V
Published in Genes (14.01.2023)
Published in Genes (14.01.2023)
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Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis
Dratch, Laynie, Mu, Weiyi, Wood, Elisabeth McCarty, Morgan, Brianna, Massimo, Lauren, Clyburn, Cynthia, Bardakjian, Tanya, Grossman, Murray, Irwin, David J., Cousins, Katheryn A.Q.
Published in PEC innovation (01.12.2023)
Published in PEC innovation (01.12.2023)
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