JimmyLHolderJr.MD

PubMed

• 2 citations
  Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on famil...
  Corneliu Bolbocean, Kayla B Rhidenour, Maria McCormack, Bernhard Suter, Jimmy Lloyd Holder> ;Autism Research. 2022 Dec 1
• 12 citations
  Sensory Processing Phenotypes in Phelan-McDermid Syndrome and-Related Intellectual Disability.
  Ariel M Lyons-Warren, Maria C McCormack, Jimmy L Holder Jr> ;Brain Sciences. 2022 Jan 20
• 2 citations
  Comparison of Treadmill Gait Between a Pediatric-Aged Individual With-Related Intellectual Disability and a Fraternal Twin.
  Charles S Layne, Christopher A Malaya, David R Young, Berhard Suter, Jimmy L Holder Jr> ;Frontiers in Human Neuroscience. 2022 Jan 1
• 22 citations
  Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome.
  Constance Smith-Hicks, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, J. Lloyd Holder> ;Brain Sciences. 2021 Sep 17
• 4 citations
  Genetics in Epilepsy.
  Luis A. Martinez, Yi-Chen Lai, J. Lloyd Holder, Anne E. Anderson> ;Neurologic Clinics. 2021 Aug 1
• 9 citations
  Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers
  Corneliu Bolbocean, Fabiola N. Andújar, Maria McCormack, Bernhard Suter, J. Lloyd Holder> ;Journal of Autism and Developmental Disorders. 2021 May 3
• 18 citations
  A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.
  Li Wang, Carolyn J. Adamski, Vitaliy V. Bondar, Evelyn Craigen, John R. Collette, Kaifang Pang, Kihoon Han, Antrix Jain, Sung Yun Jung, Zhandong Liu, Richard N. Sifers...> ;Molecular Psychiatry. 2020 Oct 1
• 49 citations
  An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function
  Li Wang, Kaifang Pang, Kihoon Han, Carolyn J. Adamski, Wei Wang, Ling-jie He, Jason K. Lai, Vitaliy V. Bondar, Joseph G. Duman, Ronald Richman, Kimberley F. Tolias, Pa...> ;Molecular Psychiatry. 2020 Oct 1
• 30 citations
  SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.
  Nerea Llamosas, Vineet Arora, Ridhima Vij, Murat Kilinc, Lukasz Bijoch, Camilo Rojas, Adrian Reich, BanuPriya Sridharan, Erik Willems, David R. Piper, Louis Scampavia,...> ;The Journal of Neuroscience. 2020 Oct 7
• Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis.
  Blake Vuocolo, J. Lloyd Holder> ;Neuron. 2020 May 6
• 9 citations
  BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
  Tiana M. Scott, Hui Guo, Evan E. Eichler, Jill A. Rosenfeld, Kaifang Pang, Zhandong Liu, Seema R. Lalani, Weimin Bi, Yaping Yang, Carlos A. Bacino, Haley Streff, Andre...> ;Human Mutation. 2020 Feb 7
• 33 citations
  Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progres...
  Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry S. Vinson, Sarah Risen, J....> ;Journal of Neurodevelopmental Disorders. 2019 Aug 8
• 40 citations
  Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior
  Thomas K. Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissière, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Holder, Jianrong Tang, Laura Lee Colgin, Courtney A. Miller, G...> ;Elife. 2019 Apr 26
• 2 citations
  Correction: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments w...
  Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Jo...> ;Genome Medicine. 2019 Mar 25
• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similari...
  Vetrini, F.,McKee, S.,Rosenfeld, J. A.,Suri, M.,Lewis, A. M.,Nugent, K. M.,Roeder, E.,Littlejohn, R. O.,Holder, S.,Zhu, W.,Alaimo, J. T.,Graham, B.,Harris, J. M.,Gibso...> ;Genome Med. 2019 Mar 02
• 63 citations
  SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
  Sheldon D Michaelson, Emin D. Ozkan, Massimiliano Aceti, Sabyasachi Maity, Nerea Llamosas, Monica Weldon, Elisa Mizrachi, Thomas Vaissière, Michael A. Gaffield, Jason ...> ;Nature Neuroscience. 2018 Nov 21
• 13 citations
  Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
  Ya Xing, Jimmy Holder, Yong Liu, Meizhen Yuan, Qi Sun, Xiaoxing Qu, Linbei Deng, Jia Zhou, Yingjun Yang, Ming Guo, Sau Wai Cheung, Luming Sun> ;Archives of Gynecology and Obstetrics. 2018 May 28
• 117 citations
  Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
  Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ti...> ;Molecular Autism. 2018 Apr 27
• 28 citations
  The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
  Monica Weldon, Murat Kilinc, J. Lloyd Holder, Gavin Rumbaugh> ;Journal of Neurodevelopmental Disorders. 2018 Feb 5
• 87 citations
  A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
  Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P. Schaaf, Jill A. Rosenfe...> ;Cell. 2018 Feb 22
• 6 citations
  Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
  Wenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia Braxton, Christine M. Eng, Yaping Yang, Fan Xia, Kory Keller, Leila Okinaka-Hu, Chung Lee...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 6 citations
  Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.
  Ariel M. Lyons-Warren, Sau Wai Cheung, J. Lloyd Holder> ;Neurology. 2017 Oct 24
• 45 citations
  The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss‐of‐function mutations
  J. Lloyd Holder, Michael M. Quach> ;Epilepsia. 2016 Aug 24
• 78 citations
  TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
  Simona Balestrini, Mathieu Milh, C. Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaeta...> ;Neurology. 2016 Jul 5
• 10 citations
  Exonic deletion of SLC9A9 in autism with epilepsy
  Meeta Cardon, Karen Evankovich, J. Lloyd Holder> ;Neurology. Genetics. 2016 Apr 1
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