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List of works by Karen Gripp

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

scientific article published on 27 April 2016

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

scientific article published on 10 August 2021

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

article

A dyadic approach to the delineation of diagnostic entities in clinical genomics

scientific article published on 01 January 2021

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

scientific article published on 20 July 2012

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

scientific article published on 5 June 2016

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

scientific article

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome

scientific article published in August 2004

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies

scientific article published on 08 January 2020

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

scientific article

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

scientific article published in July 2010

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

scientific article

Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

scientific article published on 01 February 1999

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

scientific article published in February 1996

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

scientific article

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

article

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

scientific article

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis

article

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

scientific article published on 08 January 2019

Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome

scientific article published on 01 October 1996

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

scientific article

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation

scientific article published on 14 December 2012

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

scientific article

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.

scientific article

Clarification of previously reported Costello syndrome patients

scientific article published on 01 April 2008

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

article published in 2018

Clinical and molecular diagnosis should be consistent

article published in 2003

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report

article

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

scientific article

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

scientific article

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

scientific article published on 14 March 2017

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 01 April 2020

Costello syndrome and related disorders.

scientific article published on December 2007

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

scientific article published on 01 March 2008

Costello syndrome: Clinical phenotype, genotype, and management guidelines

scientific article published on 20 June 2019

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

scientific article published on March 2012

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

scientific article published in August 2005

Craniosynostosis: molecular testing-a necessity for counseling

scientific article published on 01 May 2000

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

scientific article

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

scientific article

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

scientific article

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

scientific article

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance

scientific article published on 01 February 1997

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

scientific article

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease

scientific article

Elevated catecholamine metabolites in patients with Costello syndrome

scientific article published on 01 July 2004

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

scientific article published on 09 March 2017

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis

article

Expanding the neurodevelopmental phenotype of PURA syndrome.

scientific article published on 17 November 2017

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

scientific article published on 01 February 2008

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

scientific article

Extending the spectrum of distal arthrogryposis

scientific article published in November 1996

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

scientific article

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool

scientific article published on 01 July 2018

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Further delineation of cardiac abnormalities in Costello syndrome

scientific article

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

scientific article published on 01 July 2007

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 17 January 2020

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

scientific article published on 13 December 2018

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

scientific article published on 30 May 2019

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

article

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

scientific article published on 21 December 2017

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

scientific article

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy

scientific article published on 22 February 2011

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation

scientific article published in January 2006

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

article

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

scientific article published on 14 July 2015

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.

scientific article published in May 2010

Human chromosome 7: DNA sequence and biology

scientific article

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3

Identifying facial phenotypes of genetic disorders using deep learning

scientific article published on 07 January 2019

Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy

scientific article published on 10 October 2018

Imaging studies in a unique familial dysmyelinating disorder ⬇️

scientific article published on August 1, 1998

Inherited intragenic PBX1 deletion: Expanding the phenotype

scientific article published on 24 October 2020

Keratoconus in Costello syndrome

scientific article published on 13 March 2013

Lateral meningocele syndrome and Hajdu–Cheney syndrome: Different disorders with overlapping phenotypes ⬇️

scientific article published on June 10, 2011

Lateral meningocele syndrome: three new patients and review of the literature

scientific article published on June 1997

Living with Costello syndrome: quality of life issues in older individuals

scientific article published on 01 January 2010

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

article

Longitudinal assessment of cognitive characteristics in Costello syndrome

scientific article published in December 2007

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

scientific article published on 01 December 2009

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

scientific article published on 01 March 2009

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

scientific article published on 6 August 2015

Medically actionable comorbidities in adults with Costello syndrome

scientific article published on 03 November 2019

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures

scientific article published in December 2004

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

scientific article

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007

scientific article published on 01 May 2008

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

scientific article

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

scientific article

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

scientific article

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

scientific article (publication date: June 2000)

Mutations in the human TWIST gene

scientific article

Mutations in the human TWIST gene

scientific article published on 01 January 2000

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

scientific article published in October 2017

Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy

scientific article published in February 2005

Nasal dimple as part of the 22q11.2 deletion syndrome

scientific article published on 01 March 1997

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

scientific article published on 18 May 2016

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review

scientific article published on 14 April 2011

Neuromotor synapses in Escobar syndrome.

scientific article published on 16 August 2013

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

scientific article published on 28 July 2018

Normative growth charts for individuals with Costello syndrome

scientific article published on 07 August 2012

Not Antley-Bixler syndrome

scientific article published on 01 March 1999

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

scientific article

Orthopedic manifestations and implications for individuals with Costello syndrome

scientific article published on 27 June 2013

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Paternal bias in parental origin of HRAS mutations in Costello syndrome

scientific article published on 01 August 2006

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 Cost

scientific article published on 17 November 2015

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

scientific article published on 2 September 2016

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III ⬇️

scientific article published on July 24, 1998

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

article

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

scientific article published on 14 August 2017

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

scientific article published on 3 April 2017

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

scientific article published on 01 January 2009

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

scientific article

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

scientific article published in January 2010

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

scientific article published on 10 October 2018

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

article

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

scientific article

Special section. Syndrome-specific growth charts

scientific article published on 04 October 2012

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome

scientific article published in August 2004

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

scientific article

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

scientific article

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

scientific article published on 01 May 2008

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

scientific article published on 04 June 2020

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

scientific article published on 26 April 2016

The sixth international RASopathies symposium: Precision medicine-From promise to practice

scientific article published on 11 December 2019

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach

scientific article published on 21 April 2015

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

scientific article published on 09 April 2012

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

scientific article published on 13 November 2014

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

scientific article published on 29 September 2013

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

scientific article published on 4 January 2018

Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

scientific article published on 24 September 2019

Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.

scientific article published on 5 August 2013

Wilms tumor in an 11-year-old with hemihyperplasia

scientific article published on 01 December 2005

X-linked hereditary hemihypotrophy hemiparesis hemiathetosis

article

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