Publications by authors named "Golder Wilson"

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Introduction to Special Issue: Genomic Analysis of Common Disease.
Golder N Wilson

Curr Issues Mol Biol· February 2025

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Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Golder N Wilson, Vijay S Tonk

Curr Issues Mol Biol· March 2024

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A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Golder N Wilson

Curr Issues Mol Biol· July 2023

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Golder N Wilson

Mol Psychiatry· February 2023

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Golder N Wilson

Genet Med· May 2021

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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Golder N Wilson

Brain· December 2020

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Golder N Wilson, Louise C Wilson

Genet Med· September 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Golder N Wilson, Louise C Wilson

Genet Med· June 2019

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De novo variants in are associated with hypotonia, developmental delay, intellectual disability, and autism.
Akemi J Tanaka, Megan T Cho, Rebecca Willaert, Kyle Retterer, Yuri A Zarate, Golder N Wilson

Cold Spring Harb Mol Case Stud· November 2017

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mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Golder N Wilson

J Med Genet· July 2017

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KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
John M Graham, Neda Zadeh, Melissa Kelley, Ee Shien Tan, Wendy Liew, Golder N Wilson

Am J Med Genet A· October 2016

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Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.
Marcela M Nur, Merick Yamada, Vijay Tonk, Golder N Wilson

J Pediatr Adolesc Gynecol· April 2016

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Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up.
Vijay S Tonk, Golder N Wilson

Am J Med Genet A· April 2016

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Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.
Bonna Benjamin, Golder N Wilson

Am J Med Genet A· November 2015

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Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.
Krishna Yelavarthi, Huong Cabral, Golder N Wilson, Luis Rohena, Hiba Risheg

Am J Med Genet A· April 2015

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Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Golder N Wilson

Am J Hum Genet· March 2015

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Exome analysis of connective tissue dysplasia: death and rebirth of clinical genetics?
Golder N Wilson

Am J Med Genet A· May 2014

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Presymptomatic and preimplantation genetic diagnosis: neurology, NextGenetics, and the next generation.
Golder N Wilson

JAMA Neurol· April 2014

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Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry.
Bonna Benjamin, Golder N Wilson

J Pediatr Surg· April 2014

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Measure radiation exposure and sensitivity.
Golder N Wilson

JAMA Pediatr· February 2014

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The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.
Golder N Wilson

Am J Med Genet A· April 2013

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Maternal genetic effect in DNA analysis: egg on your traits.
Golder N Wilson

Am J Med Genet A· July 2012

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Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less.
Vijay Tonk, Jee Hong Kyhm, Caro E Gibson, Golder N Wilson

Am J Med Genet A· June 2011

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Genetic drift. Saving Grace: On the nature of syndromes and the missed Nobel.
Golder N Wilson

Am J Med Genet A· March 2011

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A user's guide to the elements of standard morphologic terminology: Analysis and database.
Golder N Wilson

Am J Med Genet A· July 2010

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