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Author Details

Susan Schelley
Stanford University
1982
28
18
PMIDPaper TitleJournal TitlePublished Year
32814847Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genet Med2020
30245513KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genet Med2019
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
30087448An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.Eur J Hum Genet2018
29396029Prenatal treatment of ornithine transcarbamylase deficiency.Mol Genet Metab2018
27696117Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.J Inherit Metab Dis2017
27108799Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Am J Hum Genet2016
26805781Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.Am J Hum Genet2016
25402239Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.Am J Med Genet A2015
26608784RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.Am J Hum Genet2015
25383892Exome sequencing for the diagnosis of 46,XY disorders of sex development.J Clin Endocrinol Metab2015
24525916Clinical whole-exome sequencing: are we there yet?Genet Med2014
19187739Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.J Pediatr2009
17103451Clinical features and management issues in Mowat-Wilson syndrome.Am J Med Genet A2006
15523636Developmental outcome in Kabuki syndrome.Am J Med Genet A2005
16143021Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.Clin Genet2005
16053902Clinical and mutational spectrum of Mowat-Wilson syndrome.Eur J Med Genet2005
15031030A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Lancet2004
14756673The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.Clin Genet2004
14722918Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Hum Mutat2004
14627692Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.J Med Genet2003
11855930Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.Mol Genet Metab2002
12415272Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Nat Genet2002
8958336Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.Am J Med Genet1996
8213913Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.Am J Med Genet1993
2447577Biamnial elevated alpha-fetoprotein and positive acetylcholinesterase in twins, one with anencephaly.Prenat Diagn1987
4067764Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance.J Pediatr1985
7107411The effect of misonidazole on the cytotoxicity and repair of potentially lethal damage from alkylating agents in vitro.Int J Radiat Oncol Biol Phys1982
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Collaborators

Lucile Packard Children's Hospital and Stanford University
Co-authored papers 8
Stanford University
Co-authored papers 6
university of california los angeles
Co-authored papers 3
Murdoch Children's Research Institute
Co-authored papers 2
Newcastle University
Co-authored papers 2
Radboud University Medical Center
Co-authored papers 2
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Co-authored papers 2
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Clinical Biochemical Genetics Laboratory
Co-authored papers 2
Co-authored papers 2
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Research Institute of Molecular Pathology
Co-authored papers 2
Mayo Clinic College of Medicine and Science
Co-authored papers 2
Guy's Hospital
Co-authored papers 2
King's College London
Co-authored papers 2
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 2
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 1
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
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Co-authored papers 1
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 1
Stanford University School of Medicine
Co-authored papers 1
Baylor College of Medicine
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Institute of Computer Science, Warsaw University of Technology
Co-authored papers 1
The University of Texas McGovern Medical School
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Pacific Northwest National Laboratory
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