Search Results - "Bardakjian, Tanya"

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants by Zech, Michael, Bardakjian, Tanya M., Stoklosa, Malgorzata, Ploski, Rafal, Jech, Robert, Gonzalez‐Alegre, Pedro, Winkelmann, Juliane

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The genetics of anophthalmia and microphthalmia by Bardakjian, Tanya M, Schneider, Adele

“…PURPOSE OF REVIEWTo summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role…”
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PPP2R5D Genetic Mutations and Early‐Onset Parkinsonism by 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

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Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation by Hsiao, Cheng-Tsung, Tropea, Thomas F., Fu, Ssu-Ju, Bardakjian, Tanya M., Gonzalez-Alegre, Pedro, Soong, Bing-Wen, Tang, Chih-Yung, Jeng, Chung-Jiuan

“…Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from…”
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts by 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.

“…The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of neurologic…”
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Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy by Quinn, Colin, Moore, Steven A, Bardakjian, Tanya M, Karam, Chafic

“…A 30-year-old man who recently immigrated from Liberia was admitted to the neurology service for diffuse weakness. He reported 7 years of painless progressive…”
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Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With SOD1 -ALS by Morganroth, Jennifer, Bardakjian, Tanya M, Dratch, Laynie, Quinn, Colin C, Elman, Lauren B

“…Qalsody (tofersen), an intrathecal therapy (IT) antisense oligonucleotide (ASO), was granted accelerated approval by the Food and Drug Administration for the…”
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Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss by 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

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Temporal trends and yield of clinical diagnostic genetic testing in adult neurology by 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

“…While genetics evaluation is increasingly utilized in adult neurology patients, its usage and efficacy are not well characterized. Here, we report our…”
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The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria by 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.

“…The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen…”
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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome by 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.

“…BMP4 loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these…”
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The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics by 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

“…Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic…”
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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice by 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

“…[This corrects the article DOI: 10.1371/journal.pgen.1002114.]…”
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm by 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

“…The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in…”
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Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss by 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

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Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease by Bardakjian, Tanya M, Naczi, Kaylee Faulkner, Gonzalez-Alegre, Pedro

“…Advances in molecular therapeutic approaches in the last decade are translating into the design of non-traditional clinical trials. In order to improve their…”
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Genetic test utilization and diagnostic yield in adult patients with neurological disorders by Bardakjian, Tanya M., Helbig, Ingo, Quinn, Colin, Elman, Lauren B., McCluskey, Leo F., Scherer, Steven S., Gonzalez-Alegre, Pedro

“…To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for…”
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia by Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.

“…SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are…”
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Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis by Dratch, Laynie, Mu, Weiyi, Wood, Elisabeth McCarty, Morgan, Brianna, Massimo, Lauren, Clyburn, Cynthia, Bardakjian, Tanya, Grossman, Murray, Irwin, David J., Cousins, Katheryn A.Q.

“…There are limited studies exploring the support and education needs of individuals at-risk for or diagnosed with hereditary frontotemporal degeneration (FTD)…”
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P203: Genetic testing in an adult neuromuscular clinic: Diagnostic yield and testing strategies by Johnson, Kelsey, Azage, Meron, Babaian, Nareen, Baldwin, Aaron, Dratch, Laynie, Paul, Rachel, Quinn, Colin, Bardakjian, Tanya

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