Publications by authors named "Susan Schelley"

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Reclassifying c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
Christopher Connolly, Rachel Fisher, Chen Yang, Susan Schelley, Bryce A Mendelsohn

Int J Neonatal Screen· October 2025

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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Susan Schelley

Genet Med· November 2020

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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Susan Schelley

Genet Med· April 2019

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An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu, Susan Schelley

Eur J Hum Genet· December 2018

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Prenatal treatment of ornithine transcarbamylase deficiency.
Yael Wilnai, Yair J Blumenfeld, Kristina Cusmano, Susan R Hintz, Deborah Alcorn, Susan Schelley

Mol Genet Metab· March 2018

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Susan Schelley

Am J Hum Genet· March 2018

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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Monika Oláhová, Kyle Thompson, Steven A Hardy, Inês A Barbosa, Arnaud Besse, Susan Schelley

J Inherit Metab Dis· January 2017

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Slavé Petrovski, Sébastien Küry, Candace T Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Susan Schelley

Am J Hum Genet· May 2016

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Susan Schelley

Am J Hum Genet· February 2016

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RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Hanan Shamseldin, Anas M Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Susan Schelley

Am J Hum Genet· December 2015

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Ruth M Baxter, Valerie A Arboleda, Hane Lee, Hayk Barseghyan, Margaret P Adam, Susan Schelley

J Clin Endocrinol Metab· February 2015

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Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
Marie-Luise Brennan, Margaret P Adam, Laurie H Seaver, Angela Myers, Susan Schelley

Am J Med Genet A· January 2015

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Clinical whole-exome sequencing: are we there yet?
Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, Michael Niaki, Julia Platt, Susan Schelley

Genet Med· September 2014

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Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
Margaret P Adam, April N Justice, Susan Schelley, Andrea Kwan, Louanne Hudgins

J Pediatr· January 2009

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Clinical features and management issues in Mowat-Wilson syndrome.
Margaret P Adam, Susan Schelley, Renata Gallagher, April N Brady, Kimberly Barr

Am J Med Genet A· December 2006

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Clinical and mutational spectrum of Mowat-Wilson syndrome.
Christiane Zweier, Christian T Thiel, Andreas Dufke, Yanick J Crow, Peter Meinecke, Susan L Schelley

Eur J Med Genet· September 2005

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Developmental outcome in Kabuki syndrome.
Keith K Vaux, Kenneth L Jones, Marilyn C Jones, Susan Schelley, Louanne Hudgins

Am J Med Genet A· January 2005

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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Carol J Gallione, Gabriela M Repetto, Eric Legius, Anil K Rustgi, Susan L Schelley

Lancet· March 2004

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Mitsuhiro Kato, Soma Das, Kristin Petras, Kunio Kitamura, Ken-Ichirou Morohashi, Susan L Schelley

Hum Mutat· February 2004

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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Karen M Lower, Gillian Turner, Bronwyn A Kerr, Katherine D Mathews, Marie A Shaw, Susan Schelley

Nat Genet· December 2002

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Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Susan R Hintz, Dietrich Matern, Arnold Strauss, Michael J Bennett, H Eugene Hoyme, Susan Schelley

Mol Genet Metab· February 2002

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