JenniferM.BainMDPhD

PubMed

• 3' UTR Deletion ofin a Patient with Brain Abnormalities and Developmental Delay.
  Xin Bi, Maureen S Mulhern, Erica Spiegel, Ronald J Wapner, Brynn Levy, Jennifer M Bain, Jun Liao> ;Genes. 2023 Aug 25
• 2 citations
  HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
  Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma...> ;American Journal of Human Genetics. 2023 Aug 3
• 4 citations
  Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
  Scott J Myers, Riley E Perszyk, Jing Zhang, Sukhan Kim, Kelsey A Nocilla, James P Allen, Jennifer M Bain, Johannes R Lemke, Dennis Lal, Timothy A Benke, Stephen F Tray...> ;Human Molecular Genetics. 2023 Sep 16
• 1 citations
  Rett-like Phenotypes in-Related Neurodevelopmental Disorder.
  Joseph Nicho Gonzalez, Sylvie Goldman, Melissa T Carter, Jennifer M Bain> ;Genes. 2023 May 26
• 3 citations
  CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
  Charlotte Gehin, Museer A Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M Adeyemi, Erica H Gerkes, Alexander Pa Stegmann, Estrella López-Martín, Eva Bermejo-Sá...> ;The Journal of Clinical Investigation. 2023 May 15
• 11 citations
  Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
  Palmer, E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuray...> ;Molecular Psychiatry. 2023 Feb 1
• 2 citations
  Assessing the feasibility of using the ketogenic diet in autism spectrum disorder.
  Jacob Albers, Gearta Kraja, Danielle Eller, Karen Eck, Danielle McBrian, Jennifer M Bain> ;Journal of Human Nutrition and Dietetics. 2023 Aug 1
• Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
  Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C C...> ;Human Molecular Genetics. 2023 Jan 13
• 4 citations
  Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
  Jennifer M Bain, LeeAnne Green Snyder, Katherine L Helbig, Dominique D Cooper, Wendy K Chung, Kimberly Goodspeed> ;Journal of Neurodevelopmental Disorders. 2022 Jun 28
• 105 citations
  Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infec...
  Shuffrey, L., Firestein, M., Kyle, M., Fields, A., Alcántara, C., Amso, D., Austin, J., Bain, J., Barbosa, J., Bence, M., Bianco, C., Fernández, C., Goldman, S., Gyamf...> ;JAMA Pediatrics. 2022 Jun 1
• 5 citations
  Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
  Bhooma R Aravamuthan, Michele Shusterman, Leeanne Green Snyder, Monica E Lemmon, Jennifer M Bain, Paul Gross, > ;Developmental Medicine and Child Neurology. 2022 Jun 1
• 6 citations
  Cerebral Palsy in Child Neurology and Neurodevelopmental Disabilities Training: An Unmet Need.
  Jenny L Wilson, Young-Min Kim, Jennifer A O'Malley, Rose Gelineau-Morel, Laura Gilbert, Jennifer M Bain, Bhooma R Aravamuthan> ;Journal of Child Neurology. 2022 Mar 1
• 6 citations
  Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
  Hans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, Allyn McConkie-Rossell, Marie McDonald, Boris Keren, Cyril Mignot, Julie Gauthier, Jean-François Soucy, Jacques L...> ;Human Genetics. 2022 Feb 1
• 4 citations
  Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
  Rachel Salazar, Sara Beenders, Nicole M. LaMarca, Olivia Thornburg, Lewis Rubin-Thompson, Arielle Snow, Sylvie Goldman, Wendy K. Chung, Jennifer M. Bain> ;Research in Developmental Disabilities. 2021 Dec 1
• 3 citations
  A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
  Alexandre M. White-Brown, Gabrielle Lemire, Yoko Ito, Olivia Thornburg, Jennifer M. Bain, David A. Dyment> ;American Journal of Medical Genetics. Part A. 2021 Oct 31
• 6 citations
  A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
  Natalie Lippa, Subit Barua, Vimla Aggarwal, Elaine M. Pereira, Jennifer M. Bain> ;BMC Neurology. 2021 Sep 16
• 2 citations
  How Providers in Child Neurology Transitioned to Telehealth During COVID-19 Pandemic
  Jennifer M. Bain, Codi-Ann Dyer, Megan Galvin, Sylvie Goldman, Jay E. Selman, Wendy G. Silver, Sarah E. Tom> ;Child Neurology Open. 2021 Jul 19
• 17 citations
  Genetic testing in individuals with cerebral palsy
  Halie J. May, Jennifer A Fasheun, Jennifer M. Bain, Evan H. Baugh, Louise Bier, Anya Revah-Politi, David P. Roye, David Goldstein, Jason B. Carmel> ;Developmental Medicine and Child Neurology. 2021 Jun 10
• 3 citations
  Deliberate paradigm shift in research in rare neurodevelopmental disorders.
  Jennifer M. Bain, Adel Ardalan, Sylvie Goldman> ;Orphanet Journal of Rare Diseases. 2021 Jun 9
• 12 citations
  Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
  Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMa...> ;Neurology. Genetics. 2021 Jan 29
• 12 citations
  Cerebrospinal Analysis in Patients With COVID-19.
  Emily Happy Miller, Vivian S. Namale, Carla Y. Kim, Rachelle Dugue, Greer Waldrop, Alexander M. Chong, Jason Zucker, Eliza Miller, Jennifer M. Bain, Joshua Willey, Kev...> ;Open Forum Infectious Diseases. 2020 Nov 1
• 31 citations
  Encephalopathy and bilateral thalamic lesions in a child with MIS-C associated with COVID-19.
  Dori Abel, Min Ye Shen, Zaynah Abid, Claire Hennigan, Alexis Boneparth, Emily Happy Miller, Anne Catrin Uhlemann, Danielle K. McBrian, Kiran T. Thakur, Wendy G. Silver...> ;Neurology. 2020 Oct 20
• 1 citations
  Pediatric Inflammatory and Autoimmune Neurologic Disorders at a Tertiary Medical Center.
  Angela M Curcio, Jennifer M Bain, Erin S Beck, Wendy S Vargas> ;Journal of Child Neurology. 2020 Jul 17
• 17 citations
  Inpatient Neurology Consultations During the Onset of the SARS-CoV-2 New York City Pandemic: A Single Center Case Series
  Sara Radmard, Samantha Epstein, Hannah J. Roeder, Steven D. Shapiro, Amelia K. Boehme, Tommy J. Wilson, Juan Carlos Duran, Jennifer M. Bain, Joshua Z. Willey, Kiran T....> ;Frontiers in Neurology. 2020 Jul 10
• 93 citations
  Neurologic manifestations in an infant with COVID-19.
  Rachelle Dugue, Karla C. Cay-Martinez, Kiran T. Thakur, Joel A. Garcia, Lokendra V. Chauhan, Simon H. Williams, Thomas Briese, Marc Foca, Danielle McBrian, Jennifer M....> ;Neurology. 2020 Jun 16
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