JonathanDPickerMD

PubMed

• 5 citations
  Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
  Li-Ying Liu, Fang Liu, Qiu-Hong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yang-Yang Wang, Meng-Na Zhang, Yu Zhang, Jonathan Picker, Xiaodai Cui, Liping Zou, Xiaoli Chen> ;Molecular Genetics & Genomic Medicine. 2021 May 5
• 15 citations
  Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
  Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob M. Loupe, Ryan L. Collins, Diane Lucente, Jayla Ruliera, Tammy Gillis, Jayalakshmi S. Mysore, L...> ;Human Molecular Genetics. 2021 Apr 26
• 4 citations
  Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
  Abidemi Adegbola, Richard E. Lutz, Elina Nikkola, Samuel P. Strom, Jonathan Picker, Anthony Wynshaw-Boris> ;HGG Advances. 2020 Oct 22
• 18 citations
  Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
  Andrew B. Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, Daniel Guido Fuster, Giusppe Albano, Marina Troxler, Jonathan Picker, Paul A. Rosenberg, Ann M. Bergin, Jur...> ;Annals of Neurology. 2019 Jun 1
• 49 citations
  Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
  Klaus Schmitz-Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden, Casie A. Genetti, Monica H. Wojcik, Sadhana Ponnaluri, Cynthia S. Gubbels, Jonathan Pic...> ;European Journal of Human Genetics. 2019 Apr 12
• 18 citations
  De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
  Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte A. van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy K. Grange, Linda Manwaring, Ian D. Krantz, Colleen ...> ;European Journal of Human Genetics. 2019 Feb 18
• 8 citations
  Revising the Psychiatric Phenotype of Homocystinuria.
  Mohamed A. Almuqbil, Susan E. Waisbren, Harvey L. Levy, Jonathan Picker> ;Genetics in Medicine. 2019 Jan 15
• 30 citations
  Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
  Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis F. Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Pi...> ;Human Molecular Genetics. 2018 Nov 1
• 9 citations
  Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology
  Monica H. Wojcik, Dara Brodsky, Jane E. Stewart, Jonathan Picker> ;Journal of Perinatology. 2018 Aug 3
• 8 citations
  Expanding the phenotypic spectrum associated with OPHN1 variants
  Talia S. Schwartz, Monica H. Wojcik, Renee C. Pelletier, Heather L. Edward, Jonathan Picker, Ingrid A. Holm, Meghan C. Towne, Alan H. Beggs, Pankaj B. Agrawal> ;European Journal of Medical Genetics. 2019 Feb 1
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 9 citations
  HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion
  Hyun Kim, Laura Chadwick, Yasir Alzaidi, Jonathan Picker, Annapurna Poduri, Shannon Manzi> ;Pediatrics. 2018 Apr 1
• 8 citations
  Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
  Saumya Shekhar Jamuar, Jonathan Picker, Joan M. Stoler> ;The Journal of Pediatrics. 2018 May 1
• 1 citations
  Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.
  Alexandra Garza-Flores, Pamela Hawley, Jonathan Picker, Elizabeth Tannebring, Matthew A. Deardorff, Angela E. Lin> ;American Journal of Medical Genetics. Part A. 2017 Apr 26
• 3 citations
  Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome
  Kaizad Munshi, Katherine Pawlowski, Joseph Gonzalez-Heydrich, Jonathan Picker> ;Journal of Child and Adolescent Psychopharmacology. 2017 Dec 1
• 10 citations
  A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
  Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James Gusella, Jonathan D Picker> ;European Journal of Human Genetics. 2016 Dec 1
• 9 citations
  A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
  Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James Gusella, Jonathan D Picker> ;European Journal of Human Genetics. 2016 Dec 1
• 11 citations
  Expanding the phenotypic spectrum of GABRG2 variants : a recurrent GABRG2 missense variant associated with a severe phenotype
  Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan Picker, Sharyn A. Lincoln, David A. Sweetser, Lauren C. Briere, Chellamani Harini, Eric D. Marsh, ...> ;Journal of Neurogenetics. 2017 May 2
• 34 citations
  BRAT1 mutations present with a spectrum of clinical severity.
  Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn A. Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Pick...> ;American Journal of Medical Genetics. Part A. 2016 Jun 9
• 41 citations
  De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
  Volkan Okur, Megan T. Cho, Lindsay B. Henderson, Kyle Retterer, Michael C. Schneider, Shannon Sattler, Dmitriy Niyazov, Meron Azage, Sharon R. Smith, Jonathan Picker, ...> ;Human Genetics. 2016 Apr 5
• 13 citations
  Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated...
  Catherine A. Brownstein, Robin J. Kleiman, Elizabeth C. Engle, Meghan C. Towne, Eugene J. D'Angelo, Timothy W. Yu, Alan H. Beggs, Jonathan Picker, Jason M. Fogler, Dev...> ;American Journal of Medical Genetics. Part A. 2016 Feb 16
• 24 citations
  Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
  Catherine A. Brownstein, Alan H. Beggs, Lance H. Rodan, Jiahai Shi, Meghan C. Towne, Renee C. Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker, ...> ;Neurogenetics. 2016 Jan 1
• 61 citations
  De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
  María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian Bomme Ousager, Beatriz Puisac,...> ;Human Mutation. 2015 Apr 1
• 24 citations
  Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome
  Vidhu V Thaker, Kristyn M. Esteves, Meghan C. Towne, Catherine A. Brownstein, Philip James, Laura Crowley, Joel N. Hirschhorn, Sarah H. Elsea, Alan H. Beggs, Jonathan ...> ;The Journal of Clinical Endocrinology and Metabolism. 2015 Mar 17
• 69 citations
  Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
  Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki M. Hisama, David W. Brown, Mary P. Mullen, David J. Harris, Joan M. Stoler, Ann Seman, Davi...> ;BMC Genomics. 2014 Dec 17
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Journal Articles

• Expanding the Phenotypic Spectrum Associated with OPHN1 Variants  
  Jonathan D Picker, Ingrid A Holm, Monica H Wojcik, Pankaj B Agrawal, ScienceDirect