Professor, Pediatrics, Jefferson Medical College-Thos Jefferson Univ
Medical Genetics
Dr. Karen W. Gripp, MD
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Doctor Karen W. Gripp, MD practices Medical Genetics. He received 2 awards: "Regional Top Doctor" and "Super Doctor". Dr. Karen W. Gripp is also published. He has 72 publications published. The lastest publication: "Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with C...'
Publications
- Differentiating between copy-number-variation and gain-of-function mutation.
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
- Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with C...
- Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.
- Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
- Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
- Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
- Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory.
- Neuromotor synapses in Escobar syndrome.
- Orthopedic manifestations and implications for individuals with Costello syndrome.
- The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
- Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
- Exome analysis in clinical practice: expanding the phenotype of bartsocas-papas syndrome.
- Keratoconus in Costello syndrome.
- Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
- Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
- Normative growth charts for individuals with Costello syndrome.
- A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
- Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overg...
- Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
- Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
- Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
- Lateral meningocele syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes.
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
- Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
- Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review.
- Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
- CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.
- Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
- Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.
- X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
- Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
- High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural ...
- Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
- Living with Costello syndrome: quality of life issues in older individuals.
- Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
- Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
- Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
- Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
- The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
- Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposiu...
- Clarification of previously reported Costello syndrome patients.
- Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
- Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
- Longitudinal assessment of cognitive characteristics in Costello syndrome.
- Costello syndrome and related disorders.
- Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
- Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
- Selective IgM deficiency and 22q11.2 deletion syndrome.
- Somatic mosaicism for an HRAS mutation causes Costello syndrome.
- Paternal bias in parental origin of HRAS mutations in Costello syndrome.
- HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
- Wilms tumor in an 11-year-old with hemihyperplasia.
- Tumor predisposition in Costello syndrome.
- Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
- Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
- Further delineation of Kabuki syndrome in 48 well-defined new individuals.
- Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
- Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.
- Elevated catecholamine metabolites in patients with Costello syndrome.
- Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
- 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency.
- Clinical and molecular diagnosis should be consistent.
- Genetics of colorectal cancer.
- Human chromosome 7: DNA sequence and biology.
- Further delineation of cardiac abnormalities in Costello syndrome.
- Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
Schools
Universitaet Hamburg Fachbereich Medizin
Thomas Jefferson University
Children39s Hospital Of Philadelphia
Doctors Specialties
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
- Super Doctor
Education
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Children's Hospital of Philadelphia -
Thomas Jefferson University
Hospital
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Thomas Jefferson University Hospital
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