Publications by authors named "Jonathan Picker"

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Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
Shiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, Qifei Li, Jessica Kottmeier, Jonathan Picker

Eur J Hum Genet· May 2025

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Chemical genetic analysis of enoxolone inhibition of Clostridioides difficile toxin production reveals adenine deaminase and ATP synthase as antivirulence targets.
Ravi K R Marreddy, Gregory A Phelps, Kelly Churion, Jonathan Picker, Reid Powell

J Biol Chem· November 2024

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Jonathan Picker

Hum Mutat· April 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Jonathan Picker

Am J Hum Genet· April 2022

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Fluvoxamine for the treatment of COVID-19.
Hyun Kim, Shannon Manzi, Joseph Gonzelez-Heydrich, Jonathan Picker

Lancet Glob Health· March 2022

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Prokaryotic Collagen-Like Proteins as Novel Biomaterials.
Jonathan Picker, Ziyang Lan, Srishtee Arora, Mykel Green, Mariah Hahn

Front Bioeng Biotechnol· March 2022

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Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Jonathan Picker

Mol Genet Genomic Med· June 2021

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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jonathan Picker

Hum Mol Genet· April 2021

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Disruption of , encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
Abidemi Adegbola, Richard Lutz, Elina Nikkola, Samuel P Strom, Jonathan Picker

HGG Adv· October 2020

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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, Jonathan D Picker

Eur J Hum Genet· September 2019

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Revising the Psychiatric Phenotype of Homocystinuria.
Mohamed A Almuqbil, Susan E Waisbren, Harvey L Levy, Jonathan D Picker

Genet Med· August 2019

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Volkan Okur, Megan T Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker

Eur J Hum Genet· July 2019

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Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Andrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, Daniel Fuster, Giusppe Albano, Jonathan Picker

Ann Neurol· June 2019

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Expanding the phenotypic spectrum associated with OPHN1 variants.
Talia S Schwartz, Monica H Wojcik, Renee C Pelletier, Heather L Edward, Jonathan D Picker

Eur J Med Genet· February 2019

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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Brittany N Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Jonathan Picker

Hum Mol Genet· November 2018

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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

J Perinatol· September 2018

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Saumya S Jamuar, Jonathan D Picker, Joan M Stoler

J Pediatr· May 2018

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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, Jonathan Picker

Am J Med Genet A· April 2018

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and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete Deletion.
Hyun Kim, Laura Chadwick, Yasir Alzaidi, Jonathan Picker, Annapurna Poduri

Pediatrics· April 2018

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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 D Picker

J Neurogenet· March 2018

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Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.
Kaizad Munshi, Katherine Pawlowski, Joseph Gonzalez-Heydrich, Jonathan D Picker

J Child Adolesc Psychopharmacol· December 2017

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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

Am J Med Genet A· July 2017

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, Jonathan D Picker

Eur J Hum Genet· December 2016

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, Jonathan D Picker

Eur J Hum Genet· December 2016

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BRAT1 mutations present with a spectrum of clinical severity.
Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Jonathan Picker

Am J Med Genet A· September 2016

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