Search Results - "Snyder, Lee"

The Fisher Variant of Guillain-Barré Syndrome (Fisher Syndrome) by Snyder, Lee A, Rismondo, Vivian, Miller, Neil R

“…Fisher syndrome (FS) is an acute polyneuropathy typically characterized by the triad of ataxia, areflexia, and ophthalmoplegia, although it may present with 2…”
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A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders by Lord, Catherine, Petkova, Eva, Hus, Vanessa, Gan, Weijin, Lu, Feihan, Martin, Donna M, Ousley, Opal, Guy, Lisa, Bernier, Raphael, Gerdts, Jennifer, Algermissen, Molly, Whitaker, Agnes, Sutcliffe, James S, Warren, Zachary, Klin, Ami, Saulnier, Celine, Hanson, Ellen, Hundley, Rachel, Piggot, Judith, Fombonne, Eric, Steiman, Mandy, Miles, Judith, Kanne, Stephen M, Goin-Kochel, Robin P, Peters, Sarika U, Cook, Edwin H, Guter, Stephen, Tjernagel, Jennifer, Green-Snyder, Lee Anne, Bishop, Somer, Esler, Amy, Gotham, Katherine, Luyster, Rhiannon, Miller, Fiona, Olson, Jennifer, Richler, Jennifer, Risi, Susan

“…CONTEXT Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder–not otherwise specified,…”
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Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection by Davidson, Julie, Goin-Kochel, Robin P., Green-Snyder, Lee Anne, Hundley, Rachel J., Warren, Zachary, Peters, Sarika U.

“…The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This…”
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Imaging HF-induced large-scale irregularities above HAARP by Djuth, Frank T., Reinisch, Bodo W., Kitrosser, David F., Elder, John H., Snyder, A. Lee, Sales, Gary S.

“…The University of Massachusetts‐Lowell digisonde is used with the HAARP high‐frequency (HF), ionospheric modification facility to obtain radio images of…”
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16p11.2 deletion syndrome by Chung, Wendy K, Roberts, Timothy PL, Sherr, Elliott H, Snyder, LeeAnne Green, Spiro, John E

“…The 16p11.2 BP4 and BP5 region, is a recurrent ∼600kb copy number variant (CNV), and deletions are one of the most frequent etiologies of neurodevelopmental…”
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Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries by Wickstrom, Jordan, Farmer, Cristan, Green Snyder, LeeAnne, Mitz, Andrew R., Sanders, Stephan J., Bishop, Somer, Thurm, Audrey

“…Background Recent large‐scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism…”
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Pharmacists' and Pharmacy Students' Ability to Identify Drug-related Problems Using TIMER (Tool to Improve Medications in the Elderly via Review) by Lee, Sarah Snyder, Schwemm, Ann K., Reist, Jeffrey, Cantrell, Matthew, Andreski, Michael, Doucette, William R., Chrischilles, Elizabeth A., Farris, Karen B.

“…Determine the effectiveness of TIMER (Tool to Improve Medications in the Elderly via Review) in helping pharmacists and pharmacy students identify drug-related…”
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Recent ultra-rare inherited variants implicate new autism candidate risk genes by Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zody, Michael C., Eichler, Evan E.

“…Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data…”
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Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection by Albers, Jacob, Bagos-Estevez, Adriana, Snyder, LeeAnne Green, Tsalatsanis, Athanasios, Boehme, Amelia, Bain, Jennifer M.

“…Autism spectrum disorder (ASD) can present with developmental regression. In this study, we hypothesize an association between Gastrointestinal (GI) symptoms…”
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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort by Steinman, Kyle J., Spence, Sarah J., Ramocki, Melissa B., Proud, Monica B., Kessler, Sudha K., Marco, Elysa J., Green Snyder, LeeAnne, D'Angelo, Debra, Chen, Qixuan, Chung, Wendy K., Sherr, Elliott H.

“…Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental…”
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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants by Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

“…Objective:Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether…”
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Language characterization in 16p11.2 deletion and duplication syndromes by Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J., Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P., Chung, Wendy K.

“…Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding…”
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Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures by Fenster, Rebecca, Ziegler, Alban, Kentros, Catherine, Geltzeiler, Alexa, Green Snyder, LeeAnne, Brooks, Elizabeth, Chung, Wendy K.

“…DYRK1A haploinsufficiency syndrome is a well‐established neurodevelopmental disorder, but detailed information on the range of cognitive and behavioral issues…”
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Psychiatric disorders in children with 16p11.2 deletion and duplication by Niarchou, Maria, Chawner, Samuel J. R. A., Doherty, Joanne L., Maillard, Anne M., Jacquemont, Sébastien, Chung, Wendy K., Green-Snyder, LeeAnne, Bernier, Raphael A., Goin-Kochel, Robin P., Hanson, Ellen, Linden, David E. J., Linden, Stefanie C., Raymond, F. Lucy, Skuse, David, Hall, Jeremy, Owen, Michael J., Bree, Marianne B. M. van den

“…Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the…”
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Phenotypically driven subgroups of ASD display distinct metabolomic profiles by Prince, Nicole, Chu, Su H., Chen, Yulu, Mendez, Kevin M., Hanson, Ellen, Green-Snyder, LeeAnne, Brooks, Elizabeth, Korrick, Susan, Lasky-Su, Jessica A., Kelly, Rachel S.

“…[Display omitted] •Phenotypically driven subgroups of ASD children from the Simons Simplex Collection displayed distinct metabolomic profiles.•Children with…”
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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic by Kowanda, Michelle, Cartner, Lindsey, Kentros, Catherine, Geltzeiler, Alexa R., Singer, Kaitlyn E., Weaver, W. Curtis, Lehman, Christopher D., Smith, Simone, Smith, Rebecca Sheedy, Walsh, Lauren Kasparson, Diehl, Katharine, Nagpal, Natalie, Brooks, Elizabeth, Mebane, Caroline M., Wilson, Ashley L., Marvin, Alison R., White, L. Casey, Law, J. Kiely, Jensen, William, Daniels, Amy M., Tjernagel, Jennifer, Snyder, LeeAnne Green, Taylor, Cora M., Chung, Wendy K.

“…Because of the COVID-19 pandemic, in-person services for individuals with neurodevelopmental disabilities were disrupted globally, resulting in a transition to…”
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders by Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

“…With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene…”
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Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication by Green Snyder, LeeAnne, D’Angelo, Debra, Chen, Qixuan, Bernier, Raphael, Goin-Kochel, Robin P., Wallace, Arianne Stevens, Gerdts, Jennifer, Kanne, Stephen, Berry, Leandra, Blaskey, Lisa, Kuschner, Emily, Roberts, Timothy, Sherr, Elliot, Martin, Christa L., Ledbetter, David H., Spiro, John E., Chung, Wendy K., Hanson, Ellen

“…The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral…”
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Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes by Frazier, Thomas W, Busch, Robyn M, Klaas, Patricia, Lachlan, Katherine, Jeste, Shafali, Kolevzon, Alexander, Loth, Eva, Harris, Jacqueline, Speer, Leslie, Pepper, Tom, Anthony, Kristin, Graglia, J Michael, Delagrammatikas, Christal G, Bedrosian-Sermone, Sandra, Smith-Hicks, Constance, Huba, Katie, Longyear, Robert, Green-Snyder, LeeAnne, Shic, Frederick, Sahin, Mustafa, Eng, Charis, Hardan, Antonio Y, Uljarević, Mirko

“…This study focused on the development and initial psychometric evaluation of a set of online, webcam-collected, and artificial intelligence-derived patient…”
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Psychotic symptoms in 16p11.2 copy‐number variant carriers by Jutla, Amandeep, Turner, J. Blake, Green Snyder, LeeAnne, Chung, Wendy K., Veenstra‐VanderWeele, Jeremy

“…16p11.2 copy‐number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder…”
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