Keck School Faculty

Matthew Deardorff
Matthew Deardorff
Professor of Clinical Pathology and Pediatrics
Pediatrics
4640 West Sunset Boulevard Off Campus Los Angeles

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features Sci Rep. 2020 Jul 02; 10(1):10827. . View in PubMed

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome Cancer Genet. 2020 Jul; 245:42-48. . View in PubMed

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome J Med Genet. 2020 May 19. . 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

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

A PIK3CA mutation in an acquired capillary malformation Pediatr Dermatol. 2020 Jan; 37(1):246-247. . View in PubMed

HACE1 deficiency leads to structural and functional neurodevelopmental defects Neurol Genet. 2019 Jun; 5(3):e330. . 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

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

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

Molecular diagnosis of somatic overgrowth conditions: A single-center experience Mol Genet Genomic Med. 2019 03; 7(3):e536. . 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

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID Front Pediatr. 2019; 7:170. . 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

Cohesin complex-associated holoprosencephaly Brain. 2019 09 01; 142(9):2631-2643. . 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

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

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

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement Nat Rev Genet. 2018 10; 19(10):649-666. . 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

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

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

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

A human case of SLC35A3-related skeletal dysplasia Am J Med Genet A. 2017 Oct; 173(10):2758-2762. . View in PubMed

Association of the missense variant pArg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug; 92(2):221-223. . 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

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

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

Correspondence to Gripp et alnephroblastomatosis 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

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

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen JIMD Rep. 2017; 34:43-47. . 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

DrLaird G. Jackson Festschrift. Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2):72-5. . 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

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder Am J Med Genet A. 2016 10; 170(10):2632-7. . 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

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

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases Nat Biotechnol. 2016 05; 34(5):531-8. . 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

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis JIMD Rep. 2016; 30:33-37. . View in PubMed

Intragenic KANSL1 mutations and chromosome 17q2131 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

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

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

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation Am J Med Genet A. 2015 Oct; 167A(10):2411-7. . View in PubMed

Clinical utility gene card for: Cornelia de Lange syndrome Eur J Hum Genet. 2015 Oct; 23(10). . 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

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features Mol Genet Genomic Med. 2015 Sep; 3(5):452-8. . View in PubMed

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium Am J Med Genet A. 2015 Jun; 167(6):1179-92. . View in PubMed

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes Hum Mutat. 2015 Apr; 36(4):454-62. . View in PubMed

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin Nat Genet. 2015 Apr; 47(4):338-44. . View in PubMed

Melorheostosis: segmental osteopoikilosis or a separate entity? J Pediatr Orthop. 2015 Mar; 35(2):e13-7.. View in PubMed

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 J Med Genet. 2015 Feb; 52(2):104-10. . View in PubMed

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia Eur J Hum Genet. 2015 Feb; 23(2):264-6. . View in PubMed

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease Am J Hum Genet. 2015 Jan 08; 96(1):121-35. . View in PubMed

Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders ACS Chem Biol. 2014 Sep 19; 9(9):2157-64. . View in PubMed

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):252-6. . View in PubMed

Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts Am J Med Genet A. 2014 Jun; 164A(6):1384-93. . View in PubMed

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Hum Mol Genet. 2014 Jun 01; 23(11):2888-900. . View in PubMed

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea Am J Hum Genet. 2014 May 01; 94(5):784-9. . View in PubMed

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum J Invest Dermatol. 2014 Mar; 134(3):658-665. . View in PubMed

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations Am J Med Genet A. 2013 Sep; 161A(9):2148-57. . View in PubMed

Improving surveillance for hyperammonemia in the newborn Mol Genet Metab. 2013 Sep-Oct; 110(1-2):102-5. . View in PubMed

Immunologic features of Cornelia de Lange syndrome Pediatrics. 2013 Aug; 132(2):e484-9. . View in PubMed

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy Am J Med Genet A. 2013 Aug; 161A(8):1929-39. . View in PubMed

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy Am J Med Genet A. 2013 May; 161A(5):993-1001. . View in PubMed

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome Am J Med Genet A. 2013 Feb; 161A(2):371-6. . View in PubMed

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array Am J Med Genet A. 2013 Jan; 161A(1):166-71. . View in PubMed

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis Am J Med Genet A. 2012 Oct; 158A(10):2499-505. . View in PubMed

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Nature. 2012 Sep 13; 489(7415):313-7. . View in PubMed

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome Am J Med Genet A. 2012 Aug; 158A(8):1841-7. . View in PubMed

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies Am J Med Genet A. 2012 Aug; 158A(8):1848-56. . View in PubMed

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Eur J Hum Genet. 2012 Mar; 20(3):271-6. . View in PubMed

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation Genet Med. 2012 Mar; 14(3):313-22. . View in PubMed

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Nat Genet. 2012 Feb 26; 44(4):445-9S1. . View in PubMed

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature Am J Med Genet A. 2011 Dec; 155A(12):3007-24. . View in PubMed

A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med. 2011 Aug 18; 365(7):611-9. . View in PubMed

Neutral mitochondrial heteroplasmy and the influence of aging Hum Mol Genet. 2011 Apr 15; 20(8):1653-9. . View in PubMed

Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion BMC Med. 2011 Feb 03; 9:13. . View in PubMed

Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations Front Immunol. 2011; 2:61. . View in PubMed

Genome-wide DNA methylation analysis in cohesin mutant human cell lines Nucleic Acids Res. 2010 Sep; 38(17):5657-71. . View in PubMed

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey Am J Med Genet A. 2010 Jul; 152A(7):1641-53. . View in PubMed

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum Am J Med Genet A. 2010 May; 152A(5):1326-7. . View in PubMed

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome Am J Med Genet A. 2010 Apr; 152A(4):924-9. . View in PubMed

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Hum Mol Genet. 2010 Apr 01; 19(7):1263-75. . View in PubMed

A recurrent 16p121 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9. . View in PubMed

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines Am J Med Genet A. 2009 Oct; 149A(10):2181-92. . View in PubMed

A 781-kb deletion of 13q123 in a patient with Peters plus syndrome. Am J Med Genet A. 2009 Aug; 149A(8):1842-5. . View in PubMed

Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies PLoS One. 2009; 4(5):e5232. . View in PubMed

Complex management of a patient with a contiguous Xp114 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 2008 Aug; 94(4):498-502. . View in PubMed

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation Am J Hum Genet. 2007 Mar; 80(3):485-94. . View in PubMed

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion Am J Med Genet A. 2004 Nov 01; 130A(4):393-4. . View in PubMed

Kermit, a frizzled interacting protein, regulates frizzled 3 signaling in neural crest development Development. 2001 Oct; 128(19):3665-74. . View in PubMed

A role for frizzled 3 in neural crest development Development. 2001 Oct; 128(19):3655-63. . View in PubMed

Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis Development. 1998 Jul; 125(14):2687-700. . View in PubMed

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