Primary Office

Nemours Children's Hospital, Delaware Nemours Children's Hospital, Delaware 1600 Rockland Road Wilmington, DE 19803 Appointment: (800) 416-4441

Get to Know Me

I’m a pediatrician, geneticist and genetic researcher, married with a daughter and two cats. I’m also an associate editor for a professional medical genetics journal. I chose to specialize in medical genetics because it has such a central role in many medical conditions affecting patients (young and old).

Why I Treat Children

I chose to be a pediatrician and geneticist in order to help families who are affected by genetic or congenital problems in their child. I enjoy the direct interaction with the families and patients.

What I'm Passionate About

I have an ongoing relationship with the Costello syndrome family support group. Costello syndrome is a very rare condition, and the affected individuals have multiple medical problems including tumor predisposition and intellectual disability.

How I Try to Make A Difference

I am deeply involved in research into genetic disorders, including Costello syndrome and other conditions. I have published numerous papers and received a number of awards for my work.

Education & Training

Fellowship

  • Genetics - The Children's Hospital of Philadelphia, 1999

Internship Residency

  • Pediatrics - Thomas Jefferson University Hospital, 1995

Medical/Dental School

  • MD - Universitat Hamburg, 1989

Board Certifications

  • American Board of Medical Genetics and Genomics/Clinical Molecular Genetics and Genomics
  • American Board of Medical Genetics and Genomics/Clinical Genetics and Genomics
  • American Board of Pediatrics/General Pediatrics

Awards & Recognition

  • 2016 Philadelphia Magazine's Top Doctors
  • 2015 Philadelphia Magazine's Top Doctors
  • 2014 Best Doctors in America
  • 2014 Delaware Today magazine, Top Doctors
  • 2013 Best Doctors in America
  • 2011 Best Doctors in America
  • 2003 John Opitz Young Investigator Award

Insurance Accepted

  • Aetna Better Health PA Kids HMO
  • Aetna HMO
  • Aetna PPO/POS/EPO
  • Amerihealth Caritas Delaware
  • Carefirst MD Community Health Plan Mcaid
  • Cigna/Great West HMO EPO POS
  • Cigna/Great West PPO
  • Delaware First Health
  • Devon Health Services
  • Fidelis Care NJ Medicaid HMO
  • First Health/Affordable PPO
  • Geisinger Health Plan Commercial
  • Global Medical Managment DE/PA
  • Health Partners Medicaid/Kidz Partner HMO
  • Highmark Blue Cross Blue Shield of Delaware
  • Highmark Medicaid Health Options
  • Horizon Blue Cross Blue Shield of New Jersey
  • Independance Blue Cross/Amerihealth/Keystone Health Plan
  • Insurance Administrators of America
  • INTEGRA Administrative Group (ClaimsBridge)
  • Keystone First Medicaid HMO
  • Lifetrac Transplant
  • Maryland Medicaid
  • Multiplan PPO
  • National Transplant (Humana)
  • New Jersey Medicaid
  • Pennsylvania Medicaid
  • Plan Vista/NPPN PPO
  • Preferred Healthcare PPO
  • Private Health Care Systems (PHCS)
  • Qualcare HMO/POS/PPO
  • Star Healthcare Network
  • Three Rivers Provider Network
  • Tricare/Humana Military Health Services
  • United Healthcare of the Mid-Atlantic
  • UPMC MCAID/CHIP PA DE
  • US Family Health Plan
  • Wellpoint Maryland Medcaid

Medical Interests

  • Congenital brain abnormalities
  • Craniofacial malformations
  • Diagnosis of congenital anomalies
  • Dysmorphology
  • Tumor predisposition syndromes

  • GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders; medRxiv; (2023).

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  • Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder; Genetics in Medicine; (2023).

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  • Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy; American Journal of Medical Genetics, Part A; (2023).

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  • Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms; American Journal of Medical Genetics, Part A; (2023).

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  • The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy; American Journal of Medical Genetics, Part A; (2023).

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  • The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery; American Journal of Medical Genetics, Part A; (2022).

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  • Central nervous system involvement in individuals with RASopathies; American Journal of Medical Genetics Part C: Seminars in Medical Genetics; (2022).

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  • GestaltMatcher facilitates rare disease matching using facial phenotype descriptors; Nature Genetics; (2022).

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  • Craniosynostosis is a feature of Costello syndrome; American Journal of Medical Genetics, Part A; (2022).

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  • Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies; Journal of the American Academy of Dermatology; (2022).

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  • De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus; Brain; (2022).

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  • Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants; Genetics in Medicine; (2022).

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  • RASopathies; Clinical DNA Variant Interpretation: Theory and Practice: A Volume in Translational and Applied Genomics; (2021).

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  • Response to Hamosh et al.; American Journal of Human Genetics; (2021).

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  • TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development; Human Mutation; (2021).

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  • A dyadic approach to the delineation of diagnostic entities in clinical genomics; American Journal of Human Genetics; (2021).

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  • Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior; Genetics in Medicine; (2021).

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  • Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome; American Journal of Medical Genetics, Part A; (2021).

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  • GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors; medRxiv; (2021).

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  • Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders; Paediatrics and Child Health (Canada); (2021).

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  • Inherited intragenic PBX1 deletion: Expanding the phenotype; American Journal of Medical Genetics, Part A; (2021).

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  • Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics; Clinical Pharmacology and Therapeutics; (2021).

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  • Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic; Delaware Journal of Public Health; (2021).

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  • Novel genetic testing model: A collaboration between genetic counselors and nephrology; American Journal of Medical Genetics, Part A; (2021).

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  • Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates; Cell Reports; (2021).

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  • Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; American Journal of Medical Genetics, Part A; (2021).

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  • 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting; American Journal of Medical Genetics Part A; (2021).

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  • Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies; European Journal of Human Genetics; (2021).

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  • The Genetic Testing Stewardship Program: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider; Delaware Journal of Public Health; (2021).

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  • Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1; Human Mutation; (2020).

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  • The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects; European Journal of Human Genetics; (2020).

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  • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy; Nature Communications; (2020).

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  • The sixth international RASopathies symposium: Precision medicine—From promise to practice; American Journal of Medical Genetics Part A; (2020).

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  • Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies; American Journal of Medical Genetics, Part A; (2020).

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  • Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (Genetics in Medicine, (2020), 10.1038/s41436-019-0747-z); Genetics in Medicine; (2020).

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  • GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder; Genetics in Medicine; (2020).

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  • De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder; Genetics in Medicine; (2020).

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  • De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype; American Journal of Medical Genetics, Part A; (2020).

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  • Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior; medRxiv; (2020).

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  • Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature; Journal of Inherited Metabolic Disease; (2020).

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  • Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates; Research Square; (2020).

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  • MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis; Brain; (2020).

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  • Medically actionable comorbidities in adults with Costello syndrome; American Journal of Medical Genetics, Part A; (2020).

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  • Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution; Journal of Human Genetics; (2019).

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  • Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca<sup>2+</sup>-Activated K<sup>+</sup> Channel SK3 Cause Zimmermann-Laband Syndrome; American Journal of Human Genetics; (2019).

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  • Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies; European Journal of Human Genetics; (2019).

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  • Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP; Biological Psychiatry; (2019).

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  • Costello syndrome: Clinical phenotype, genotype, and management guidelines; American Journal of Medical Genetics, Part A; (2019).

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  • GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome; American Journal of Human Genetics; (2019).

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  • Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome; Clinical Epigenetics; (2019).

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  • Identifying facial phenotypes of genetic disorders using deep learning; Nature Medicine; (2019).

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  • PEDIA: prioritization of exome data by image analysis; Genetics in Medicine; (2019).

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  • Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder; Molecular Psychiatry; (2019).

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  • Reanalysis of clinical exome sequencing data; New England Journal of Medicine; (2019).

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  • Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen Gene Curation Framework; bioRxiv; (2018).

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  • Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework; Human Mutation; (2018).

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  • Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis; Cell; (2018).

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  • Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS); Genetics in Medicine; (2018).

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  • Deepgestalt - Identifying rare genetic syndromes using deep learning; arXiv; (2018).

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  • Expanding the neurodevelopmental phenotype of PURA syndrome; American Journal of Medical Genetics, Part A; (2018).

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  • Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance; Clinical Genetics; (2018).

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  • Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool; American Journal of Medical Genetics, Part A; (2018).

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  • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848; American Journal of Human Genetics; (2018).

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  • Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy; American Journal of Medical Genetics, Part A; (2018).

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  • Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients; American Journal of Medical Genetics, Part A; (2018).

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  • PEDIA: Prioritization of exome data by image analysis; bioRxiv; (2018).

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  • ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation; Genetics in Medicine; (2018).

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  • Proceedings of the fifth international RASopathies symposium: When development and cancer intersect; American Journal of Medical Genetics, Part A; (2018).

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  • Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly; Brain; (2017).

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  • Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements; American Journal of Human Genetics; (2017).

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  • Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient; Frontiers in Oncology; (2017).

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  • Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy; JCI Insight; (2017).

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  • Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics; Clinical Genetics; (2017).

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  • Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager; Clinical Genetics; (2017).

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  • Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders; Genome medicine; (2017).

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  • Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp; American Journal of Medical Genetics, Part A; (2017).

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  • The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies; Nature Genetics; (2017).

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  • X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1; Neurogenetics; (2017).

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  • A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146—Literature review and update; American Journal of Medical Genetics, Part A; (2017).

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  • Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome; American Journal of Medical Genetics, Part A; (2017).

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  • Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy; Clinical Genetics; (2017).

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  • 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting; American Journal of Medical Genetics, Part A; (2016).

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  • Mandibulofacial dysostosis with microcephaly: Mutation and database update; Human Mutation; (2016).

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  • A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair; American Journal of Medical Genetics, Part A; (2016).

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  • Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma; American Journal of Medical Genetics, Part A; (2016).

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  • Maternal uniparental disomy of chromosome 20: A novel imprinting disorder of growth failure; Genetics in Medicine; (2016).

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  • Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype; Clinical Genetics; (2016).

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  • The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes; American Journal of Medical Genetics, Part A; (2016).

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  • Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation; American Journal of Medical Genetics, Part A; (2016).

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  • PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution; JCI Insight; (2016).

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  • Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion; American Journal of Medical Genetics, Part A; (2016).

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  • The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway; American Journal of Medical Genetics, Part A; (2016).

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  • Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome; American Journal of Medical Genetics, Part A; (2015).

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  • The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach; American Journal of Medical Genetics, Part A; (2015).

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  • PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome; European Journal of Human Genetics; (2015).

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  • An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G&gt;A (p.Gly60Asp) mutation correlates with uncommon functional consequences; American Journal of Medical Genetics, Part A; (2015).

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  • Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies; American Journal of Human Genetics; (2015).

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  • Differentiating between copy-number-variation and gain-of-function mutation; American Journal of Medical Genetics, Part A; (2015).

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  • Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome; American Journal of Medical Genetics, Part A; (2015).

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  • Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin; Nature Genetics; (2015).

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  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation; Human Mutation; (2015).

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  • Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28; American Journal of Medical Genetics, Part A; (2014).

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  • Early-lethal costello syndrome due to rare HRAS tandem base substitution (c.35-36GClAA; p.G12E)-Associated pulmonary vascular disease; Pediatric and Developmental Pathology; (2014).

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  • Erratum: Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy (The American Journal of Human Genetics (2014) 95 (227-234)); American Journal of Human Genetics; (2014).

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  • Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy; American Journal of Human Genetics; (2014).

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  • Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation; American Journal of Medical Genetics Part A; (2014).

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  • Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion; American Journal of Medical Genetics Part A; (2014).

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  • Novel SMAD4 mutation causing Myhre syndrome; American Journal of Medical Genetics Part A; (2014).

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  • Screening children with neurofibromatosis type 1 for autism spectrum disorder; American Journal of Medical Genetics Part A; (2014).

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  • De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Nature Genetics; (2014).

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  • Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation; American Journal of Medical Genetics, Part A; (2013).

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  • De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome; Genome Medicine; (2013).

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  • Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies; Pediatric Blood and Cancer; (2013).

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  • Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome; American Journal of Medical Genetics, Part A; (2013).

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  • Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory; American Journal of Medical Genetics, Part A; (2013).

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  • Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis; American Journal of Medical Genetics, Part A; (2013).

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  • Neuromotor synapses in Escobar syndrome; American Journal of Medical Genetics, Part A; (2013).

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  • Orthopedic manifestations and implications for individuals with Costello syndrome; American Journal of Medical Genetics, Part A; (2013).

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  • Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism; Nature Genetics; (2013).

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  • Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus; American Journal of Human Genetics; (2013).

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  • The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes; American Journal of Medical Genetics, Part A; (2013).

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  • Transmission of the rare HRAS mutation (c. 173C&gt;T; p.T58I) further illustrates its attenuated phenotype; American Journal of Medical Genetics, Part A; (2012).

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  • Normative growth charts for individuals with Costello syndrome; American Journal of Medical Genetics, Part A; (2012).

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  • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes; Nature Genetics; (2012).

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  • Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis; American Journal of Medical Genetics, Part A; (2012).

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  • A novel HRAS substitution (c.266C&gt;G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development; American Journal of Medical Genetics, Part A; (2012).

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  • Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis; American Journal of Medical Genetics, Part A; (2012).

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  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome; Nature Genetics; (2012).

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  • Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?; American Journal of Medical Genetics, Part C: Seminars in Medical Genetics; (2011).

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  • Clinical approach to craniosynostosis; Monographs in Human Genetics; (2011).

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  • Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome; American Journal of Medical Genetics, Part A; (2011).

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  • Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations; Genetics in Medicine; (2011).

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  • Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25; American Journal of Medical Genetics, Part A; (2011).

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  • Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy; American Journal of Medical Genetics, Part A; (2011).

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  • Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene; American Journal of Medical Genetics, Part A; (2011).

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  • Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome; American Journal of Medical Genetics, Part A; (2011).

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  • Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review; American Journal of Medical Genetics, Part C: Seminars in Medical Genetics; (2011).

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  • Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C; American Journal of Medical Genetics, Part A; (2011).

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  • CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review; American Journal of Medical Genetics, Part A; (2011).

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  • Craniosynostosis Syndromes; Management of Genetic Syndromes: Third Edition; (2010).

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  • Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back; American Journal of Medical Genetics, Part A; (2010).

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  • X-linked hereditary hemihypotrophy hemiparesis hemiathetosis; American Journal of Medical Genetics, Part A; (2010).

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  • Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?; American Journal of Medical Genetics, Part A; (2010).

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  • Costello Syndrome; Management of Genetic Syndromes: Third Edition; (2010).

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  • High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities; American Journal of Medical Genetics, Part A; (2010).

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  • Living with Costello syndrome: Quality of life issues in older individuals; American Journal of Medical Genetics, Part A; (2010).

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  • Preaxial hallucal polydactyly as a marker for diabetic embryopathy; Birth Defects Research Part A - Clinical and Molecular Teratology; (2009).

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  • Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome; American Journal of Medical Genetics, Part A; (2009).

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  • Male-to-male transmission of costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism; American Journal of Medical Genetics, Part A; (2009).

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  • Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia; Prenatal Diagnosis; (2009).

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  • Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes; American Journal of Medical Genetics, Part A; (2009).

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  • The molecular basis of Costello syndrome; Monographs in Human Genetics; (2009).

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  • Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007; American Journal of Medical Genetics, Part A; (2008).

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  • Clarification of previously reported Costello syndrome patients; American Journal of Medical Genetics, Part A; (2008).

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  • Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?; American Journal of Medical Genetics, Part A; (2008).

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  • Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts; American Journal of Medical Genetics, Part A; (2008).

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  • The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders; American Journal of Medical Genetics, Part A; (2008).

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  • Costello syndrome and related disorders; Unknown Source; (2007).

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  • Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome; American Journal of Medical Genetics, Part A; (2007).

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  • Longitudinal assessment of cognitive characteristics in costello syndrome; American Journal of Medical Genetics, Part A; (2007).

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  • Selective IgM deficiency and 22q11.2 deletion syndrome; Annals of Allergy, Asthma and Immunology; (2007).

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  • Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome; American Journal of Medical Genetics, Part A; (2007).

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  • Somatic mosaicism for an HRAS mutation causes Costello syndrome; American Journal of Medical Genetics, Part A; (2006).

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  • CHEST WALL ABNORMALITIES; Encyclopedia of Respiratory Medicine: Volume 1-4; (2006).

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  • Chest Wall Abnormalities; Encyclopedia of Respiratory Medicine, Four-Volume Set; (2006).

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  • HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation; American Journal of Medical Genetics; (2006).

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  • Paternal bias in parental origin of HRAS mutations in Costello syndrome; Human Mutation; (2006).

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  • Erratum: Adult phenotype in Costello syndrome (American Journal of Medical Genetics (2005) 136A (128-135) DOI: 10.1002/ajmg.a.30747); American Journal of Medical Genetics; (2005).

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  • Wilms tumor in an 11-year-old with hemihyperplasia [4]; American Journal of Medical Genetics, Part A; (2005).

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  • Further delineation of Kabuki syndrome in 48 well-defined new individuals; American Journal of Medical Genetics; (2005).

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  • Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy; American Journal of Medical Genetics; (2005).

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  • Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children; Human Genetics; (2005).

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  • The adult phenotype in Costello syndrome; American Journal of Medical Genetics; (2005).

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  • Costello Syndrome; Unknown Source; (2005).

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  • Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome; Neurology; (2005).

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  • Craniosynostosis: Another feature of the 22q11.2 deletion syndrome; American Journal of Medical Genetics; (2005).

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  • Craniosynostosis Syndromes; Unknown Source; (2005).

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  • Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: A rare brain malformation syndrome associated with mental retardation and seizures; Neuropediatrics; (2004).

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  • Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis); Plastic and Reconstructive Surgery; (2004).

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  • 22q11.2 deletion syndrome and selective IgM deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency [1]; American Journal of Medical Genetics; (2004).

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  • Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome; American Journal of Medical Genetics; (2004).

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  • Adaptive skills, cognitive, and behavioral characteristics of Costello Syndrome; American Journal of Medical Genetics; (2004).

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  • Elevated catecholamine metabolites in patients with Costello syndrome; American Journal of Medical Genetics; (2004).

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  • Human chromosome 7: DNA sequence and biology; Science; (2003).

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  • Genetics of colorectal cancer [3]; New England Journal of Medicine; (2003).

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  • Clinical and molecular diagnosis should be consistent [3]; American Journal of Medical Genetics; (2003).

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  • Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol; American Journal of Medical Genetics; (2002).

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  • Further delineation of cardiac abnormalities in Costello syndrome; American Journal of Medical Genetics; (2002).

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  • A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis; Genetics in Medicine; (2001).

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  • Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia; American Journal of Medical Genetics; (2001).

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  • Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: A preliminary report; Plastic and Reconstructive Surgery; (2001).

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  • Craniosynostosis: Molecular testing?a necessity for counseling; Unknown Source; (2000).

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  • Mutations in the humanTWIST gene; Unknown Source; (2000).

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  • Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin- binding protein; American Journal of Human Genetics; (2000).

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  • Erratum: Mutations in the human TWIST gene (Human Mutations (2000) 15 (150-155)); Human Mutation; (2000).

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  • Second case of bladder carcinoma in a patient with Costello syndrome [2]; American Journal of Medical Genetics; (2000).

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  • Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother; American Journal of Medical Genetics; (1999).

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  • TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome; American Journal of Medical Genetics; (1999).

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  • Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother; Unknown Source; (1999).

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  • Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III; American Journal of Medical Genetics; (1998).

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  • Imaging studies in a unique familial dysmyelinating disorder; American Journal of Neuroradiology; (1998).

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  • Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3; Journal of Pediatrics; (1998).

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  • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome; American Journal of Human Genetics; (1997).

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  • Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance; American Journal of Medical Genetics; (1997).

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  • Lateral meningocele syndrome: Three new patients and review of the literature; American Journal of Medical Genetics; (1997).

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  • Nasal dimple as part of the 22q11.2 deletion syndrome; American Journal of Medical Genetics; (1997).

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  • Extending the spectrum of distal arthrogryposis; Unknown Source; (1996).

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  • Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome; Clinical Dysmorphology; (1996).

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  • Extending the spectrum of distal arthrogryposis; American Journal of Medical Genetics; (1996).

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  • Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6; Cytogenetic and Genome Research; (1995).

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  • Common fragile sites in couples with recurrent spontaneous abortions; American Journal of Medical Genetics; (1989).

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  • Not Antley‐Bixler syndrome; Unknown Source; (0000).

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  • Lateral meningocele syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes; Unknown Source; (0000).

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  • Mutations in the humanTWIST gene; Unknown Source; (0000).

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  • Neuromuscular and Chest Wall Disorders; Unknown Source; (0000).

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  • Not Antley-Bixler syndrome; Unknown Source; (0000).

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  • OUP, hardcover, 507 pages, £ 35.99, ISBN: 978-0-19-530149-6; Unknown Source; (0000).

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  • Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations; Unknown Source; (0000).

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  • Reply to Aymé and Philip; Unknown Source; (0000).

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  • Reply to Aymé and Philip; Unknown Source; (0000).

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  • Special section. Syndrome-specific growth charts; Unknown Source; (0000).

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  • Tumor predisposition in Costello syndrome; Unknown Source; (0000).

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  • Keratoconus in Costello Syndrome; Unknown Source; (0000).

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  • Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda; Unknown Source; (0000).

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  • Assessing genotype–phenotype correlation in Costello syndrome using a severity score; Unknown Source; (0000).

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  • Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation; Unknown Source; (0000).

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