Assistant Professor, Pediatrics, Perelman School of Medicine

Medical Genetics

Dr. Matthew A. Deardorff practices Medical Genetics. He researched medicine at Perelman School of Medicine at the University of Pennsylvania. Matthew A. Deardorff, MD has written publications. He has 56 publications published with PubMed. The lastest paper is: 'The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation.'

Publications

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• MESP1 Mutations in Patients with Congenital Heart Defects.
• ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
• Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
• Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders.
• Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
• Melorheostosis: segmental osteopoikilosis or a separate entity?
• Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
• Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders.
• De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.
• Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
• Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit.
• Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
• Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy-Genotypic Overlap with Pseudoxanthoma Elasticum.
• Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype...
• PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
• Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
• Immunologic features of cornelia de lange syndrome.
• Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
• Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
• A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
• Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
• Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
• Improving surveillance for hyperammonemia in the newborn.
• Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
• Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
• Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
• A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome.
• Neutral mitochondrial heteroplasmy and the influence of aging.
• Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion.
• The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.
• Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
• Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
• Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.
• Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
• Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
• Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.
• SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
• A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
• Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
• Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.
• Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presenta...
• Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
• Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
• The value of the metabolic autopsy in the pediatric hospital setting.
• Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
• Kermit, a frizzled interacting protein, regulates frizzled 3 signaling in neural crest development.
• A role for frizzled 3 in neural crest development.
• Regulation of eye development by frizzled signaling in Xenopus.
• Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis.
• Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites.
• Regulation of glycogen synthase kinase 3beta and downstream Wnt signaling by axin.
• Xenopus axin interacts with glycogen synthase kinase-3 beta and is expressed in the anterior midbrain.
• The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation.
• Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis.

Schools

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• Perelman School of Medicine University of Pennsylvania

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• Children's Hospital of Philadelphia
• Perelman School of Medicine at the University of Pennsylvania

Hospital

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• Hospital of the University of Pennsylvania
• Pennsylvania Hospital

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