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Matthew Deardorff, MD, PhD

Professor of Pediatrics (Clinical Scholar)

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Email [email protected]
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Publications

  • Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation. Eur J Hum Genet. 2026 Jul 29.. View in PubMed
  • Impact of SARS-CoV-2 variants and demographic factors on COVID-19 severity in pediatric patients. BMC Infect Dis. 2026 Jul 17.. View in PubMed
  • Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus. J Hum Immun. 2026 May 04; 2(3):e20250194.. View in PubMed
  • The role of pharmacogenomics and opioid prescribing for infants with surgical congenital heart disease. Pharmacogenet Genomics. 2025 Nov 28.. View in PubMed
  • Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Oct; 27(10):101480.. View in PubMed
  • Opioid-Related Pharmacogenomic Variants in a Retrospective Cohort of High-Risk Hospitalized Infants. J Pediatr. 2025 12; 287:114725.. View in PubMed
  • Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1639666.. View in PubMed
  • Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1574325.. View in PubMed
  • Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 Aug; 27(8):101452.. View in PubMed
  • Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome. Ann Clin Transl Neurol. 2025 May 02.. View in PubMed
  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16.. View in PubMed
  • 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel). 2025 Jan 24; 16(2).. View in PubMed
  • Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 11; 96(5):900-913.. View in PubMed
  • Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273.. View in PubMed
  • Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28.. View in PubMed
  • Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.. View in PubMed
  • Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development. Mol Syndromol. 2023 Aug; 14(4):303-309.. View in PubMed
  • ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372.. View in PubMed
  • Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Am J Med Genet A. 2023 04; 191(4):977-982.. View in PubMed
  • Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review. Ophthalmic Genet. 2023 12; 44(6):572-576.. View in PubMed
  • Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium. Ophthalmology. 2023 03; 130(3):265-273.. View in PubMed
  • Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366.. View in PubMed
  • Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn. 2022 03; 24(3):274-286. Murrell JR, Nesbitt AMI, Baker SW, Pech . View in PubMed
  • Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020. Am J Med Genet A. 2022 03; 188(3):1005-1014.. View in PubMed
  • Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers. Am J Bioeth. 2021 12; 21(12):67-70.. View in PubMed
  • Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137.. View in PubMed
  • Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet A. 2021 09; 185(9):2766-2775.. View in PubMed
  • ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 08; 100(2):187-200.. View in PubMed
  • Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv. 2021 05; 7(20).. View in PubMed
  • The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep. Sci Adv. 2021 02; 7(8).. View in PubMed
  • Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders. J Struct Biol. 2021 03; 213(1):107681.. View in PubMed
  • Variants in NAA15 cause pediatric hypertrophic cardiomyopathy. Am J Med Genet A. 2021 01; 185(1):228-233.. View in PubMed
  • EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. Am J Med Genet A. 2020 12; 182(12):2926-2938.. View in PubMed
  • The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? Am J Med Genet A. 2020 09; 182(9):2058-2067. Li D, Ahrens-Nicklas RC, Baker J, Bhambh . View in PubMed
  • A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Sci Rep. 2020 07 02; 10(1):10827.. View in PubMed
  • Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genet. 2020 07; 245:42-48.. View in PubMed
  • Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. J Med Genet. 2021 03; 58(3):178-184.. View in PubMed
  • Segmental congenital hemangiomas: Three cases of a rare entity. Pediatr Dermatol. 2020 May; 37(3):548-553.. View in PubMed
  • NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet A. 2020 06; 182(6):1454-1459.. View in PubMed
  • A Centralized Approach for Practicing Genomic Medicine. Pediatrics. 2020 03; 145(3).. View in PubMed
  • A PIK3CA mutation in an acquired capillary malformation. Pediatr Dermatol. 2020 Jan; 37(1):246-247.. View in PubMed
  • Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. Am J Med Genet A. 2020 01; 182(1):162-168.. View in PubMed
  • Cohesin complex-associated holoprosencephaly. Brain. 2019 09 01; 142(9):2631-2643.. View in PubMed
  • Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):693-708.. View in PubMed
  • New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 07 09; 12(1):105.. View in PubMed
  • Hematopoietic Stem Cell Transplant for the Treatment of X-MAID. Front Pediatr. 2019; 7:170.. View in PubMed
  • Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2019 07; 179(7):1139-1147.. View in PubMed
  • HACE1 deficiency leads to structural and functional neurodevelopmental defects. Neurol Genet. 2019 Jun; 5(3):e330.. View in PubMed
  • Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019 04 04; 104(4):685-700.. View in PubMed
  • Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Mol Genet Genomic Med. 2019 03; 7(3):e536.. View in PubMed
  • Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551.. View in PubMed
  • Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 2019 04; 179(4):525-533.. View in PubMed
  • Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. Eur J Hum Genet. 2019 04; 27(4):612-620.. View in PubMed
  • Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.. View in PubMed
  • Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. J Mol Diagn. 2019 01; 21(1):38-48.. View in PubMed
  • Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet. 2018 12 06; 103(6):995-1008.. View in PubMed
  • Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 11; 20(11):1486.. View in PubMed
  • Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018 10; 19(10):649-666.. View in PubMed
  • Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 10; 20(10):1298.. View in PubMed
  • De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Am J Med Genet A. 2018 09; 176(9):1845-1851.. View in PubMed
  • TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. Am J Hum Genet. 2018 06 07; 102(6):1104-1114.. View in PubMed
  • Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. Am J Med Genet A. 2018 05; 176(5):1249-1252.. View in PubMed
  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.. View in PubMed
  • Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 03; 20(3):329-336.. View in PubMed
  • A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A. 2017 Oct; 173(10):2758-2762.. View in PubMed
  • WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 06; 101(1):139-148.. View in PubMed
  • P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet. 2017 06 15; 26(12):2207-2217.. View in PubMed
  • Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A. 2017 Aug; 173(8):2108-2125.. View in PubMed
  • Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A. 2017 08; 173(8):2293-2295.. View in PubMed
  • Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017 Jul; 173(7):1735-1738.. View in PubMed
  • Response to: Toriello et al., “Update on the Toriello-Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017 Jul; 173(7):1988-1991.. View in PubMed
  • Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Am J Med Genet A. 2017 May; 173(5):1172-1185.. View in PubMed
  • The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. Am J Med Genet A. 2017 Mar; 173(3):581-584.. View in PubMed
  • Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb; 3(1):e130.. View in PubMed
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.. View in PubMed
  • Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum Genet. 2017 03; 136(3):307-320.. View in PubMed
  • Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug; 92(2):221-223.. View in PubMed
  • The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.. View in PubMed
  • Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genet Med. 2017 06; 19(6):715-718.. View in PubMed
  • Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. Protein Sci. 2016 11; 25(11):1965-1976.. View in PubMed
  • Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Am J Med Genet A. 2016 12; 170(12):3090-3097.. View in PubMed
  • Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? Am J Med Genet A. 2016 09; 170(9):2261-4. Kalish JM, Deardorff MA . . View in PubMed
  • Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD Rep. 2017; 34:43-47.. View in PubMed
  • Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.. View in PubMed
  • KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Am J Med Genet A. 2016 10; 170(10):2632-7.. View in PubMed
  • Dr. Laird G. Jackson Festschrift. Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2):72-5.. View in PubMed
  • Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. Am J Med Genet C Semin Med Genet. 2016 06; 172(2):237-45.. View in PubMed
  • NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Am J Med Genet C Semin Med Genet. 2016 06; 172(2):163-70.. View in PubMed
  • Characterization of limb differences in children with Cornelia de Lange Syndrome. Am J Med Genet C Semin Med Genet. 2016 06; 172(2):155-62.. View in PubMed
  • Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol. 2016 05; 34(5):531-8.. View in PubMed
  • ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD Rep. 2016; 30:33-37.. View in PubMed
  • Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Mol Genet Genomic Med. 2016 May; 4(3):257-61.. View in PubMed
  • MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat. 2016 Mar; 37(3):308-14.. View in PubMed
  • Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2016 Jan 18; 10:5.. View in PubMed
  • Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2015 Nov 11; 9:31.. View in PubMed
  • Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016 Jan; 53(1):53-61.. View in PubMed
  • Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders. Biochemistry. 2015 Oct 27; 54(42):6501-13.. View in PubMed
  • Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14.. View in PubMed
  • Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 03; 97(3):457-64.. View in PubMed
  • Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics. 2015 Jul 19; 9:15.. View in PubMed