Publications by authors named "Jonathan Wilde"

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Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.
Platon Megagiannis, Yuan Mei, Rachel E Yan, Lin Yuan, Jonathan J Wilde

Cell Rep· August 2024

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Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.
Carolina A Hernández, Kevin Peikert, Min Qiao, Alexis Darras, Jonathan R A de Wilde

Front Neurosci· July 2024

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Corrigendum to "Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias: Shedding new light on an old enzyme" [Blood Rev. 2023 Sep:61:101103].
Myrthe J van Dijk, Jonathan R A de Wilde, Marije Bartels, Kevin H M Kuo, Andreas Glenthøj

Blood Rev· March 2024

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Enhancement of mediodorsal thalamus rescues aberrant belief dynamics in a mouse model with schizophrenia-associated mutation.
Tingting Zhou, Yi-Yun Ho, Ray X Lee, Amanda B Fath, Kathleen He, Jonathan Wilde

bioRxiv· February 2024

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A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.
Myrthe J van Dijk, Marissa J M Traets, Brigitte A van Oirschot, Titine J J Ruiter, Jonathan R A de Wilde

EJHaem· February 2024

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Circuit-specific gene therapy reverses core symptoms in a primate Parkinson's disease model.
Yefei Chen, Zexuan Hong, Jingyi Wang, Kunlin Liu, Jing Liu, Jonathan J Wilde

Cell· November 2023

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Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias: Shedding new light on an old enzyme.
Myrthe J van Dijk, Jonathan R A de Wilde, Marije Bartels, Kevin H M Kuo, Andreas Glenthøj

Blood Rev· September 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Jonathan J Wilde

Am J Med Genet A· August 2023

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Maximizing Small Biopsy Patient Samples: Unified RNA-Seq Platform Assessment of over 120,000 Patient Biopsies.
P Sean Walsh, Yangyang Hao, Jie Ding, Jianghan Qu, Jonathan Wilde

J Pers Med· December 2022

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Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia.
Jonathan R A de Wilde, Birgit van Dooijeweert, Annelies J van Vuren, Elise J Huisman, Frans J Smiers

EJHaem· November 2022

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Efficient embryonic homozygous gene conversion via RAD51-enhanced interhomolog repair.
Jonathan J Wilde, Tomomi Aida, Ricardo C H Del Rosario, Tobias Kaiser, Peimin Qi

Cell· June 2021

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The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.
Simon Grootendorst, Jonathan de Wilde, Birgit van Dooijeweert, Annelies van Vuren, Wouter van Solinge

Int J Mol Sci· February 2021

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Multiplex precise base editing in cynomolgus monkeys.
Wenhui Zhang, Tomomi Aida, Ricardo C H Del Rosario, Jonathan J Wilde, Chenhui Ding

Nat Commun· May 2020

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A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Ben Johnson, Rachel Doak, David Allsup, Emma Astwood, Gillian Evans, Jonathan Wilde

Res Pract Thromb Haemost· October 2018

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Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling.
Jonathan J Wilde, Julie A Siegenthaler, Sharon Y R Dent, Lee A Niswander

J Neurosci· March 2017

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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Ben Johnson, Gillian C Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Jonathan Wilde

Haematologica· October 2016

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Genetic, epigenetic, and environmental contributions to neural tube closure.
Jonathan J Wilde, Juliette R Petersen, Lee Niswander

Annu Rev Genet· July 2015

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Potassium dependent rescue of a myopathy with core-like structures in mouse.
M Gartz Hanson, Jonathan J Wilde, Rosa L Moreno, Angela D Minic, Lee Niswander

Elife· January 2015

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J Wilde

Hum Mol Genet· June 2014

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A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.
Shaista P Nisar, Marie Lordkipanidzé, Matthew L Jones, Ban Dawood, Sherina Murden, Jonathan T Wilde

Thromb Haemost· May 2014

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Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size.
Jian-Fu Chen, Ying Zhang, Jonathan Wilde, Kirk C Hansen, Fan Lai

Nat Commun· May 2014

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Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Jacqueline Stockley, Neil V Morgan, Danai Bem, Gillian C Lowe, Marie Lordkipanidzé, Jonathan T Wilde

Blood· December 2013

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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Jérôme Lane, Paul J McLaren, Lucy Dorrell, Kevin V Shianna, Amanda Stemke, Jonathan Wilde

Hum Mol Genet· May 2013

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Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Gillian C Lowe, Isabel Sánchez Guiu, Oliver Chapman, José Rivera, Marie Lordkipanidzé, Jonathan Wilde

Thromb Haemost· April 2013

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Does addition of BRAF V600E mutation testing modify sensitivity or specificity of the Afirma Gene Expression Classifier in cytologically indeterminate thyroid nodules?
Richard T Kloos, Jessica D Reynolds, P Sean Walsh, Jonathan I Wilde, Edward Y Tom

J Clin Endocrinol Metab· April 2013

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