USC.edu
Are You a Patient?

Matthew Deardorff, MD, PhD

Professor of Pediatrics (Clinical Scholar)

Image of Matthew Deardorff, MD, PhD
Is this your profile? Click to edit
Email mdeardorff@chla.usc.edu
CTSI Profile

Publications

  • 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
  • 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
  • Opioid-Related Pharmacogenomic Variants in a Retrospective Cohort of High-Risk Hospitalized Infants. J Pediatr. 2025 Jul 17; 287:114725.. 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
  • Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1574325.. 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
  • Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 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
  • 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
  • Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28.. 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
  • 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
  • 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
  • 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.. 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
  • 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
  • Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. J Med Genet. 2021 03; 58(3):178-184.. View in PubMed
  • The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep. Sci Adv. 2021 02; 7(8).. 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.. 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
  • 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
  • Segmental congenital hemangiomas: Three cases of a rare entity. Pediatr Dermatol. 2020 May; 37(3):548-553.. 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
  • 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
  • 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
  • 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
  • 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
  • Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551.. 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
  • 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
  • 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
  • Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A. 2017 Aug; 173(8):2108-2125.. 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
  • 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
  • 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
  • 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
  • Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017 Jul; 173(7):1735-1738.. 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
  • 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
  • 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
  • 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
  • The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. Am J Med Genet A. 2017 Mar; 173(3):581-584.. 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
  • 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
  • The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.. View in PubMed
  • Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD Rep. 2017; 34:43-47.. 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
  • Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.. 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
  • KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Am J Med Genet A. 2016 10; 170(10):2632-7.. 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.. 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
  • Dr. Laird G. Jackson Festschrift. Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2):72-5.. 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
  • 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
  • ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD Rep. 2016; 30:33-37.. 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
  • 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
  • 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
  • Clinical utility gene card for: Cornelia de Lange syndrome. Eur J Hum Genet. 2015 Oct; 23(10).. 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit. J Perinatol. 2014 Mar; 34(3):234-40.. 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
  • PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A. 2013 Sep; 161A(9):2134-47.. 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
  • 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
  • Immunologic features of Cornelia de Lange syndrome. Pediatrics. 2013 Aug; 132(2):e484-9.. 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
  • Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 07; 92(3):392-400.. 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
  • Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res. 2012 Dec 07; 11(12):6111-23.. View in PubMed
  • Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3046-53.. 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
  • 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
  • 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
  • The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012 Aug; 158A(8):1865-76.. View in PubMed
  • RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012 Jun 08; 90(6):1014-27.. 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):445-9, S1.. 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
  • The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am J Med Genet A. 2011 Jan; 155A(1):33-7.. 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 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9.. View in PubMed
  • SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.. 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 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A. 2009 Aug; 149A(8):1842-5.. View in PubMed
  • Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 2009 May 05; 7(5):e1000119.. 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 Xp11.4 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
  • Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Feb; 28(2):204-5.. View in PubMed
  • The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr. 2006 Jun; 148(6):779-83.. 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
  • Regulation of eye development by frizzled signaling in Xenopus. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3861-6.. View in PubMed
  • Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis. EMBO J. 2000 Mar 01; 19(5):1010-22.. View in PubMed
  • Regulation of glycogen synthase kinase 3beta and downstream Wnt signaling by axin. Mol Cell Biol. 1999 Oct; 19(10):7147-57.. View in PubMed
  • Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites. Mech Dev. 1999 Sep; 87(1-2):229-33.. View in PubMed
  • Xenopus axin interacts with glycogen synthase kinase-3 beta and is expressed in the anterior midbrain. Mech Dev. 1999 Feb; 80(2):147-51.. View in PubMed
  • The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. Calcif Tissue Int. 1998 Sep; 63(3):221-9.. 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

Similar People