Publications by authors named "WG Wilson"

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
M Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, Leigh Anne Flore, April Lehman, William G Wilson

Mol Genet Metab· June 2023

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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, William G Wilson

Brain· April 2023

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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
Nina McTiernan, Lisbeth Tranebjærg, Anna S Bjørheim, Jacob S Hogue, William G Wilson

Hum Genet· August 2022

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Highlighting the Dystonic Phenotype Related to GNAO1.
Thomas Wirth, Giacomo Garone, Manju A Kurian, Amélie Piton, Francisca Millan, William G Wilson

Mov Disord· July 2022

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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, Theresa Penger, Bettina Behring, William G Wilson

J Clin Endocrinol Metab· November 2021

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Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.
Omar Elghawy, Alice Y Zhang, Ryan Duong, William G Wilson, Eugene Y Shildkrot

Case Rep Ophthalmol Med· October 2021

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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, William G Wilson

Ann Neurol· August 2021

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, William G Wilson

Am J Hum Genet· June 2021

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, William G Wilson

Genet Med· February 2021

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Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Shoumita Dasgupta, Gerald L Feldman, Cynthia M Powell, Helga V Toriello, Judith Westman, William G Wilson

Genet Med· October 2020

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Defining the clinical phenotype of Saul-Wilson syndrome.
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, Andrea Merker, Seth I Berger, William G Wilson

Genet Med· May 2020

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Linked-read genome sequencing identifies biallelic pathogenic variants in as a novel cause of Meier-Gorlin syndrome.
Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, William G Wilson

J Med Genet· March 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, William G Wilson

Brain· January 2020

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COMMENTARY-The Saul-Wilson syndrome from its early days until now.
Robert A Saul, William G Wilson

Am J Med Genet A· February 2019

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, David A Parry, Mariska Davids, William G Wilson

Am J Hum Genet· October 2018

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Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia.
Jeffrey W Gander, Erika T Rhone, William G Wilson, John P Barcia, Melissa J Sacco

J Extra Corpor Technol· March 2017

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Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Yin-Hsiu Chien, Jose E Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, William G Wilson

Orphanet J Rare Dis· August 2015

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Influence of pollen transport dynamics on sire profiles and multiple paternity in flowering plants.
Randall J Mitchell, William G Wilson, Karsten G Holmquist, Jeffrey D Karron

PLoS One· July 2014

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White matter changes in an untreated, newly diagnosed case of classical homocystinuria.
J Nicholas Brenton, Julie A Matsumoto, Robert S Rust, William G Wilson

J Child Neurol· January 2014

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Individual-based chaos: extensions of the discrete logistic model.
William T Gibson, William G Wilson

J Theor Biol· December 2013

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Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.
Lindsay S Paull, Michael J Lipinski, William G Wilson, Shawn E Lipinski

JIMD Rep· February 2013

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Extrapontine myelinolysis resulting in transient cortical blindness.
Jennifer E Langer, William G Wilson, Prashant Raghavan, Robert S Rust, Howard P Goodkin

Pediatr Neurol· February 2010

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Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa.
Shawn E Lipinski, Michael J Lipinski, Autumn Burnette, Thomas A Platts-Mills, William G Wilson

Mol Genet Metab· November 2009

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Ecosystem engineers: feedback and population dynamics.
K Cuddington, W G Wilson, A Hastings

Am Nat· April 2009

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Encomium to accompany "Living history--biography: an undifferentiated pediatrician".
William G Wilson

Am J Med Genet A· March 2009

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