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Matthew Deardorff, MD, PhD

Professor of Pediatrics (Clinical Scholar)

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Email mdeardorff@chla.usc.edu
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Publications

  • Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features HGG Adv. 2024 Jan 30; 5(2):100273. . View in PubMed
  • Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review Ophthalmic Genet. 2023 Dec; 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
  • 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
  • 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 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
  • 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
  • Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome J Med Genet. 2021 03; 58(3):178-184. . 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
  • 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
  • Segmental congenital hemangiomas: Three cases of a rare entity Pediatr Dermatol. 2020 May; 37(3):548-553. . 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
  • 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
  • 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 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
  • 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
  • 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
  • Beckwith-Wiedemann syndrome in diverse populations Am J Med Genet A. 2019 04; 179(4):525-533. . 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Phenotypes and genotypes in individuals with SMC1A variants Am J Med Genet A. 2017 Aug; 173(8):2108-2125. . 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
  • 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
  • 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
  • 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
  • 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
  • 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 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit J Perinatol. 2014 Mar; 34(3):234-40. . 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
  • 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
  • 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
  • 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
  • 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):445-9S1. . 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
  • 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
  • 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
  • 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
  • A recurrent 16p121 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 13q123 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 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
  • 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
  • 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
  • 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

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