Search Results - "Hanson‐Kahn, Andrea"

Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient by Reuter, Chloe, Chun, Nicolette, Pariani, Mitchel, Hanson‐Kahn, Andrea

“…Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous association with disease risk and lack of clinical actionability…”
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MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration by Hammann, Nicole, Lenz, Dominic, Bianzano, Alyssa, Husain, Ralf A., Forman, Eva, Bernstein, Jonathan A., Dattner, Tal, Engelen, Marc, Hanson‐Kahn, Andrea K., Isidor, Bertrand, Kotzaeridou, Urania, Tietze, Anna, Trollmann, Regina, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Kölker, Stefan, Hoffmann, Georg F., Crushell, Ellen, Staufner, Christian, Mohr, Alexander, Harting, Inga

“…Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including…”
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Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment by Hanson‐Kahn, Andrea, Rowe‐Teeter, Courtney, Siskind, Carly, Dykzeul, Natalie

“…We introduce Entrustable Professional Activities (EPAs) as a potential framework for clinical training and assessment in genetic counseling. We discuss…”
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Use of genetic risks in pediatric organ transplantation listing decisions: A national survey by Graf, Madeline, Char, Danton, Hanson‐Kahn, Andrea, Magnus, David

“…There is a limited supply of organs for all those who need them for survival. Thus, careful decisions must be made about who is listed for transplant. Studies…”
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Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations by Subas, Trishna, Luiten, Rebecca, Hanson‐Kahn, Andrea, Wheeler, Matthew, Caleshu, Colleen

“…Individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) are advised to avoid certain forms of exercise to reduce their risk of sudden…”
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Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation by Hanson‐Kahn, Andrea, Li, Bing, Cohn, Daniel H., Nickerson, Deborah A., Bamshad, Michael J., Hudgins, Louanne

“…Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal…”
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome by Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.

“…Xq22 deletions that encompass PLP1 (Xq22‐PLP1‐DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild…”
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Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors by Gong, Ping, Fanos, Joanna H., Korty, Lauren, Siskind, Carly E., Hanson-Kahn, Andrea K.

“…Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to…”
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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome by Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

“…Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity…”
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Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: "Okay, now what?" by Tran, Leena, Young, Jennifer L, Barton, Claire M, Hodan, Rachel, Hanson-Kahn, Andrea, Chun, Nicolette

“…The limited literature on Asian family communication of hereditary cancer risk and cascade genetic testing for pathogenic variants (PVs) in BRCA1 and BRCA2 has…”
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Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant by Leipold, Enrico, Hanson-Kahn, Andrea, Frick, Miya, Gong, Ping, Bernstein, Jonathan A., Voigt, Martin, Katona, Istvan, Oliver Goral, R., Altmüller, Janine, Nürnberg, Peter, Weis, Joachim, Hübner, Christian A., Heinemann, Stefan H., Kurth, Ingo

“…Gain-of-function mutations in the human SCN11A -encoded voltage-gated Na + channel Na V 1.9 cause severe pain disorders ranging from neuropathic pain to…”
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FOXP1 -related intellectual disability syndrome: a recognisable entity by Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy Jl, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert

“…Mutations in forkhead box protein P1 ( ) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM:…”
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Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder by Ananth, Amitha L., MD, Robichaux-Viehoever, Amy, MD, PhD, Kim, Young-Min, ​MD, Hanson-Kahn, Andrea, MS, CGC, Cox, Rachel, MS, CGC, Enns, Gregory M., MB, ChB, Strober, Jonathan, MD, Willing, Marcia, MD, Schlaggar, Bradley L., MD, PhD, Wu, Yvonne W., MD, MPH, Bernstein, Jonathan A., MD, PhD

“…Abstract Objectives Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four…”
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Inside Back Cover, Volume 41, Issue 1 by Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.

“…Inside Back Cover: The cover image is based on the Research Article Xq22 deletions and correlation with distinct neurological disease traits in females:…”
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“This could be me”: exploring the impact of genetic risk for Huntington’s disease young caregivers by Dondanville, Danielle S., Hanson-Kahn, Andrea K., Kavanaugh, Melinda S., Siskind, Carly E., Fanos, Joanna H.

“…Huntington’s disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting…”
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Preventive drugs for Huntington's disease: A choice-based conjoint survey of patient preferences by Parrish, Marcus C, Hanson-Kahn, Andrea, Srinivasan, V, Grimes, Kevin V

“…This research examined the perspective of the Huntington's disease (HD) community regarding the use of predictive biomarkers as endpoints for regulatory…”
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Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students by White, Shana, Fisk, Dianna G., Rego, Shannon, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Ormond, Kelly E., Hanson‐Kahn, Andrea K., Adams, David R., Aday, Aaron, Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Bellen, Hugo J., Bernstein, Jonathan A., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dayal, Jyoti G., Dorrani, Naghmeh, Enns, Gregory M., Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Gahl, William A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Johnston, Jean M., Krasnewich, Donna M., Lalani, Seema R., Lee, Brendan H., Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mamounas, Laura A., Marom, Ronit, Martin, Martin G., Martínez‐Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Carl Pallais, J., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Sullivan, Jennifer A., Tifft, Cynthia J., Urv, Tiina K., Vilain, Eric, Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison

“…With the wide adoption of next‐generation sequencing (NGS)‐based genetic tests, genetic counselors require increased familiarity with NGS technology, variant…”
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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling by Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E, Amor, David J, Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B, Boon, Laurence M, Vikkula, Miikka

“…Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as…”
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Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited by McDonald, Jamie, Kornish, Jenna, Stevenson, David A., Hanson-Kahn, Andrea, Balch, Heather, James, John, Naik, Hetanshi, Whitehead, Kevin J.

“…The Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they lack details regarding a predictive…”
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Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning by Bro, Della, O'Hara, Ruth, Primeau, Michelle, Hanson-Kahn, Andrea, Hallmayer, Joachim, Bernstein, Jonathan A

“…The aims of this study were to document sleep disturbances in individuals with Phelan-McDermid syndrome (PMS), to assess whether these individuals had been…”
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