All Stories

  1. Encephalocraniocutaneous lipomatosis—a neuroradiological perspective

    Article • Pediatric Radiology, August 2025, Springer Science + Business Media

    Dr Karen W Gripp

  2. ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

    Article • European Journal of Human Genetics, March 2025, Springer Science + Business Media

    Dr Karen W Gripp

  3. Epilepsy as a Novel Phenotype of BPTF-Related Disorders

    Article • Pediatric Neurology, September 2024, Elsevier

    Dr Karen W Gripp

  4. Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

    Article • Clinical Cancer Research, August 2024, American Association for Cancer Research (AACR)

    Dr Karen W Gripp

  5. Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS)

    Article • Molecular Psychiatry, June 2024, Springer Science + Business Media

    Dr Karen W Gripp

  6. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

    Article • The American Journal of Human Genetics, March 2024, Elsevier

    Dr Karen W Gripp

  7. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

    Article • American Journal of Medical Genetics Part A, November 2023, Wiley

    Dr Karen W Gripp

  8. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

    Article • Genetics in Medicine, November 2023, Elsevier

    Dr Karen W Gripp

  9. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

    Article • American Journal of Medical Genetics Part A, June 2023, Wiley

    Dr Karen W Gripp

  10. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    Article • June 2023, Cold Spring Harbor Laboratory Press

    Dr Karen W Gripp

  11. A novel syndrome associated with prenatal fentanyl exposure

    Article • Genetics in Medicine Open, January 2023, Elsevier

    Dr Karen W Gripp

  12. Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

    Article • American Journal of Medical Genetics Part A, December 2022, Wiley

    Dr Karen W Gripp

  13. Central nervous system involvement in individuals withRASopathies

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, December 2022, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, November 2022, Elsevier

    Dr Karen W Gripp, Dr Guiomar Perez de Nanclares

  15. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

    Article • Journal of the American Academy of Dermatology, July 2022, Elsevier

    Dr Karen W Gripp

  16. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

    Article • American Journal of Medical Genetics Part A, March 2022, Wiley

    Professor Anton M Bennett, Dr Karen W Gripp

  17. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

    Article • Nature Genetics, February 2022, Springer Science + Business Media

    Dr Karen W Gripp

  18. Craniosynostosis is a feature of Costello syndrome

    Article • American Journal of Medical Genetics Part A, December 2021, Wiley

    Dr Karen W Gripp, Dr Jesse Skoch

  19. Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic

    Article • Delaware Journal of Public Health, December 2021, Delaware Academy of Medicine - Delaware Public Health Association

    Dr Karen W Gripp

  20. The Genetic Testing Stewardship Program:

    Article • Delaware Journal of Public Health, December 2021, Delaware Academy of Medicine - Delaware Public Health Association

    Dr Karen W Gripp

  21. Response to Hamosh et al.

    Article • The American Journal of Human Genetics, September 2021, Elsevier

    Dr Karen W Gripp

  22. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

    Article • Brain, August 2021, Oxford University Press (OUP)

    Dr Karen W Gripp

  23. Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics

    Article • Clinical Pharmacology & Therapeutics, July 2021, Wiley

    Dr Karen W Gripp

  24. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Article • Genetics in Medicine, June 2021, Elsevier

    Dr Karen W Gripp

  25. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

    Article • Cell Reports, June 2021, Elsevier

    Dr Karen W Gripp

  26. Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders

    Article • Paediatrics & Child Health, April 2021, Oxford University Press (OUP)

    Dr Karen W Gripp

  27. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Article • American Journal of Medical Genetics Part A, March 2021, Wiley

    Dr Karen W Gripp

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

    Article • Human Mutation, March 2021, Wiley

    Dr Karen W Gripp

  29. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

    Article • European Journal of Human Genetics, February 2021, Springer Science + Business Media

    Dr Karen W Gripp

  30. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

    Article • American Journal of Medical Genetics Part A, January 2021, Wiley

    Dr Karen W Gripp

  31. Novel genetic testing model: A collaboration between genetic counselors and nephrology

    Article • American Journal of Medical Genetics Part A, January 2021, Wiley

    Dr Karen W Gripp

  32. 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting

    Article • American Journal of Medical Genetics Part A, January 2021, Wiley

    Dr Karen W Gripp

  33. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

    Article • January 2021, Cold Spring Harbor Laboratory Press

    Dr Karen W Gripp

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

    Article • The American Journal of Human Genetics, January 2021, Elsevier

    Dr Karen W Gripp

  35. Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates 

    Article • November 2020, Research Square

    Dr Karen W Gripp

  36. Inherited intragenic PBX1 deletion: Expanding the phenotype

    Article • American Journal of Medical Genetics Part A, October 2020, Wiley

    Dr Karen W Gripp

  37. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Article • September 2020, Cold Spring Harbor Laboratory Press

    Dr Karen W Gripp

  38. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature

    Article • Journal of Inherited Metabolic Disease, August 2020, Wiley

    Dr Philippe M Campeau, Dr Karen W Gripp

  39. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

    Article • Nature Communications, July 2020, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • European Journal of Human Genetics, June 2020, Springer Science + Business Media

    Dr Karen W Gripp

  41. GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

    Article • Genetics in Medicine, May 2020, Elsevier

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, April 2020, Elsevier

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, March 2020, Elsevier

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, February 2020, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, January 2020, Wiley

    Dr Karen W Gripp

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

    Article • Brain, December 2019, Oxford University Press (OUP)

    Dr Karen W Gripp

  47. The sixth international RASopathies symposium: Precision medicine—From promise to practice

    Article • American Journal of Medical Genetics Part A, December 2019, Wiley

    Professor Anton M Bennett, Dr Karen W Gripp

  48. PEDIA: prioritization of exome data by image analysis

    Article • Genetics in Medicine, December 2019, Elsevier

    Dr Karen W Gripp

  49. Medically actionable comorbidities in adults with Costello syndrome

    Article • American Journal of Medical Genetics Part A, November 2019, Wiley

    Dr Karen W Gripp

  50. Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Article • Human Mutation, October 2019, Wiley

    Dr Karen W Gripp

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

    Article • Journal of Human Genetics, September 2019, Springer Science + Business Media

    Dr Karen W Gripp

  52. Costello syndrome: Clinical phenotype, genotype, and management guidelines

    Article • American Journal of Medical Genetics Part A, June 2019, Wiley

    Dr Karen W Gripp

  53. Reanalysis of Clinical Exome Sequencing Data

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, June 2019, New England Journal of Medicine (NEJM/MMS)

    Dr Karen W Gripp

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

    Article • The American Journal of Human Genetics, June 2019, Elsevier

    Dr Philippe M Campeau, Dr Karen W Gripp

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

    Article • Clinical Epigenetics, April 2019, Springer Science + Business Media

    Dr Karen W Gripp

  56. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Article • Biological Psychiatry, February 2019, Elsevier

    Dr Corrado Romano, Dr Karen W Gripp

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

    Article • European Journal of Human Genetics, January 2019, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • The American Journal of Human Genetics, January 2019, Elsevier

    Dr Karen W Gripp

  59. Identifying facial phenotypes of genetic disorders using deep learning

    Article • Nature Reports Stem Cells, January 2019, Springer Science + Business Media

    Dr Karen W Gripp

  60. PEDIA: Prioritization of Exome Data by Image Analysis

    Article • November 2018, Cold Spring Harbor Laboratory Press

    Dr Karen W Gripp

  61. ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

    Article • Genetics in Medicine, November 2018, Elsevier

    Dr Karen W Gripp

  62. Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

    Article • Human Mutation, October 2018, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    Dr Karen W Gripp

  64. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, September 2018, Elsevier

    Dr Karen W Gripp

  66. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

    Article • American Journal of Medical Genetics Part A, July 2018, Wiley

    Dr Karen W Gripp

  67. Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

    Article • American Journal of Medical Genetics Part A, July 2018, Wiley

    Dr Karen W Gripp

  68. Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

    Article • May 2018, Cold Spring Harbor Laboratory Press

    Dr Karen W Gripp

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

    Article • Molecular Psychiatry, May 2018, Springer Science + Business Media

    Dr Karen W Gripp

  70. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

    Article • Cell, March 2018, Elsevier

    Dr Karen W Gripp

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

    Article • The American Journal of Human Genetics, January 2018, Elsevier

    Dr Karen W Gripp

  72. Expanding the neurodevelopmental phenotype of PURA syndrome

    Article • American Journal of Medical Genetics Part A, November 2017, Wiley

    Dr Karen W Gripp

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

    Article • Clinical Genetics, September 2017, Wiley

    Dr Karen W Gripp

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

    Article • Brain, September 2017, Oxford University Press (OUP)

    Dr Karen W Gripp

  75. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    Article • Neurogenetics, August 2017, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • Genome Medicine, August 2017, Springer Science + Business Media

    Dr Karen W Gripp

  77. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

    Article • The American Journal of Human Genetics, August 2017, Elsevier

    Dr Karen W Gripp

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

    Article • Clinical Genetics, April 2017, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2017, Wiley

    Dr Karen W Gripp

  80. Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

    Article • Frontiers in Oncology, April 2017, Frontiers

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2017, Wiley

    Dr Karen W Gripp

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

    Article • Clinical Genetics, March 2017, Wiley

    Dr Karen W Gripp

  83. A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146—Literature review and update

    Article • American Journal of Medical Genetics Part A, March 2017, Wiley

    Dr Karen W Gripp

  84. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

    Article • JCI Insight, March 2017, American Society for Clinical Investigation

    Dr Karen W Gripp

  85. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

    Article • Clinical Genetics, December 2016, Wiley

    Dr Karen W Gripp

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

    Article • Nature Genetics, November 2016, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, September 2016, Wiley

    Dr Karen W Gripp

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

    Article • JCI Insight, June 2016, American Society for Clinical Investigation

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2016, Wiley

    Dr Karen W Gripp

  90. Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation

    Article • American Journal of Medical Genetics Part A, May 2016, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, May 2016, Wiley

    Dr Karen W Gripp

  92. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

    Article • American Journal of Medical Genetics Part A, April 2016, Wiley

    Dr Karen W Gripp

  93. 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

    Article • American Journal of Medical Genetics Part A, April 2016, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, April 2016, Elsevier

    Dr Karen W Gripp

  95. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Article • Human Mutation, November 2015, Wiley

    Dr Karen W Gripp

  96. 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 s

    Article • American Journal of Medical Genetics Part A, November 2015, Wiley

    Dr Stephen Yip , Dr Karen W Gripp

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

    Article • Human Mutation, August 2015, Hindawi Publishing Corporation

    Dr Karen W Gripp

  98. Differentiating between copy‐number‐variation and gain‐of‐function mutation

    Article • American Journal of Medical Genetics Part A, July 2015, Wiley

    Dr Karen W Gripp

  99. Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

    Article • Clinical Genetics, June 2015, Wiley

    Dr Jacob L McCauley, Dr Karen W Gripp

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

    Article • The American Journal of Human Genetics, May 2015, Elsevier

    Dr Philippe M Campeau, Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Reymundo Lozano, Dr Karen W Gripp

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

    Article • European Journal of Human Genetics, April 2015, Springer Science + Business Media

    Fernando Fernandez-Ramirez, Dr Karen W Gripp

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

    Article • Nature Genetics, March 2015, Springer Science + Business Media

    Dr Karen W Gripp

  105. Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome

    Article • American Journal of Medical Genetics Part A, November 2014, Wiley

    Dr Karen W Gripp

  106. Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease

    Article • Pediatric and Developmental Pathology, November 2014, SAGE Publications

    Dr Karen W Gripp

  107. Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

    Article • American Journal of Medical Genetics Part A, October 2014, Wiley

    Dr Karen W Gripp

  108. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Article • The American Journal of Human Genetics, October 2014, Elsevier

    Dr Karen W Gripp

  109. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Article • The American Journal of Human Genetics, August 2014, Elsevier

    Dr Karen W Gripp

  110. Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novelFBLN5mutation

    Article • American Journal of Medical Genetics Part A, June 2014, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2014, Wiley

    Dr Karen W Gripp

  112. Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr Karen W Gripp

  113. Novel SMAD4 mutation causing Myhre syndrome

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr Karen W Gripp

  114. Screening children with neurofibromatosis type 1 for autism spectrum disorder

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr Karen W Gripp

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

    Article • Nature Genetics, April 2014, Springer Science + Business Media

    Dr Karen W Gripp

  116. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

    Article • Nature Genetics, September 2013, Springer Science + Business Media

    Dr Karen W Gripp

  117. Neuromotor synapses in Escobar syndrome

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr Karen W Gripp

  118. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr Karen W Gripp

  119. Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, July 2013, Elsevier

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2013, Wiley

    Dr Corrado Romano, Dr Karen W Gripp

  122. Orthopedic manifestations and implications for individuals with Costello syndrome

    Article • American Journal of Medical Genetics Part A, June 2013, Wiley

    Dr Karen W Gripp

  123. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies

    Article • Pediatric Blood & Cancer, June 2013, Wiley

    Dr Karen W Gripp

  124. Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas–Papas Syndrome

    Article • American Journal of Medical Genetics Part A, April 2013, Wiley

    Dr Karen W Gripp

  125. Keratoconus in Costello Syndrome

    Article • American Journal of Medical Genetics Part A, March 2013, Wiley

    Dr Karen W Gripp

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

    Article • Genome Medicine, February 2013, Springer Science + Business Media

    Dr Karen W Gripp

  127. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Article • The American Journal of Human Genetics, February 2013, Elsevier

    Dr Karen W Gripp

  128. Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel FOXC1 mutation

    Article • American Journal of Medical Genetics Part A, December 2012, Wiley

    Dr Karen W Gripp

  129. Special section. Syndrome‐specific growth charts

    Article • American Journal of Medical Genetics Part A, October 2012, Wiley

    Dr Karen W Gripp

  130. Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

    Article • American Journal of Medical Genetics Part A, September 2012, Wiley

    Dr Karen W Gripp

  131. Normative growth charts for individuals with Costello syndrome

    Article • American Journal of Medical Genetics Part A, August 2012, Wiley

    Dr Karen W Gripp

  132. 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

    Article • American Journal of Medical Genetics Part A, July 2012, Wiley

    Dr Karen W Gripp

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

    Article • Nature Genetics, June 2012, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2012, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, March 2012, Elsevier

    Dr Karen W Gripp

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

    Article • Nature Genetics, February 2012, Springer Science + Business Media

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, January 2012, Wiley

    Dr Karen W Gripp

  138. Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene

    Article • American Journal of Medical Genetics Part A, September 2011, Wiley

    Dr Karen W Gripp

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

    Article • Genetics in Medicine, September 2011, Elsevier

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, August 2011, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2011, Wiley

    Dr Karen W Gripp

  142. Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

    Article • American Journal of Medical Genetics Part A, May 2011, Wiley

    Dr Karen W Gripp

  143. Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, April 2011, Wiley

    Dr Karen W Gripp

  144. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, April 2011, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, February 2011, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, February 2011, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, February 2011, Wiley

    Dr Karen W Gripp

  149. Clinical Approach to Craniosynostosis

    Article • January 2011, Karger Publishers

    Dr Karen W Gripp

  150. X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis

    Article • American Journal of Medical Genetics Part A, October 2010, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2010, Wiley

    Dr Karen W Gripp

  152. 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

    Article • American Journal of Medical Genetics Part A, April 2010, Wiley

    Dr Karen W Gripp

  153. Costello Syndrome

    Article • March 2010, Wiley

    Dr Karen W Gripp

  154. Craniosynostosis Syndromes

    Article • March 2010, Wiley

    Dr Karen W Gripp

  155. Living with Costello syndrome: Quality of life issues in older individuals

    Article • American Journal of Medical Genetics Part A, December 2009, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, December 2009, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, November 2009, Wiley

    Dr Karen W Gripp

  158. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes

    Article • American Journal of Medical Genetics Part A, April 2009, Wiley

    Dr Karen W Gripp

  159. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

    Article • Prenatal Diagnosis, April 2009, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, February 2009, Wiley

    Dr Karen W Gripp

  161. Preaxial hallucal polydactyly as a marker for diabetic embryopathy

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, September 2008, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2008, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, April 2008, Wiley

    Dr Karen W Gripp

  164. Clarification of previously reported Costello syndrome patients

    Article • American Journal of Medical Genetics Part A, February 2008, Wiley

    Dr Karen W Gripp

  165. Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

    Article • American Journal of Medical Genetics Part A, February 2008, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, January 2008, Wiley

    Dr Karen W Gripp

  167. Neuromuscular and Chest Wall Disorders

    Article • January 2008, Elsevier

    Dr Karen W Gripp

  168. The Molecular Basis of Costello Syndrome

    Article • January 2008, Karger Publishers

    Dr Karen W Gripp

  169. Costello syndrome and related disorders

    Article • Current Opinion in Pediatrics, December 2007, Wolters Kluwer Health

    Dr Emilio Quezada, Dr Karen W Gripp

  170. Longitudinal assessment of cognitive characteristics in Costello syndrome

    Article • American Journal of Medical Genetics Part A, November 2007, Wiley

    Dr Karen W Gripp

  171. Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome

    Article • American Journal of Medical Genetics Part A, June 2007, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, June 2007, Wiley

    Dr Karen W Gripp

  173. Judith Hall, Judith Allanson, Karen Gripp, Anne Slavotinek (eds): Handbook of Physical Measurement, 2007

    Article • Human Genetics, May 2007, Springer Science + Business Media

    Dr Karen W Gripp

  174. Somatic mosaicism for an HRAS mutation causes Costello syndrome

    Article • American Journal of Medical Genetics Part A, September 2006, Wiley

    Dr Karen W Gripp

  175. Paternal bias in parental origin ofHRASmutations in Costello syndrome

    Article • Human Mutation, August 2006, Hindawi Publishing Corporation

    Dr Karen W Gripp

  176. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

    Article • American Journal of Medical Genetics Part A, December 2005, Wiley

    Dr Karen W Gripp

  177. Wilms tumor in an 11‐year‐old with hemihyperplasia

    Article • American Journal of Medical Genetics Part A, November 2005, Wiley

    Dr Karen W Gripp

  178. Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005)

    Article • American Journal of Medical Genetics Part A, October 2005, Wiley

    Dr Karen W Gripp

  179. Tumor predisposition in Costello syndrome

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, July 2005, Wiley

    Dr Karen W Gripp

  180. The adult phenotype in Costello syndrome

    Article • American Journal of Medical Genetics Part A, June 2005, Wiley

    Dr Karen W Gripp

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

    Article • Human Genetics, June 2005, Springer Science + Business Media

    Dr Karen W Gripp

  182. C raniosynostosis Syndromes

    Article • January 2005, Wiley

    Dr Karen W Gripp

  183. C ostello Syndrome

    Article • January 2005, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Dr Karen W Gripp

  185. Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Dr Karen W Gripp

  186. Further delineation of Kabuki syndrome in 48 well‐defined new individuals

    Article • American Journal of Medical Genetics Part A, December 2004, Wiley

    Dr Karen W Gripp

  187. Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus: A Rare Brain Malformation Syndrome Associated with Mental Retardation and Seizures

    Article • Neuropediatrics, December 2004, Thieme Publishing Group

    Dr Karen W Gripp

  188. Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis)

    Article • Plastic & Reconstructive Surgery, June 2004, Wolters Kluwer Health

    Dr Karen W Gripp

  189. Genetics of Colorectal Cancer

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, June 2003, New England Journal of Medicine (NEJM/MMS)

    Dr Karen W Gripp

  190. Human Chromosome 7: DNA Sequence and Biology

    Article • Science, May 2003, American Association for the Advancement of Science

    Sabrina Tosi, Dr Karen W Gripp

  191. Further delineation of cardiac abnormalities in Costello syndrome

    Article • American Journal of Medical Genetics, June 2002, Wiley

    Dr Karen W Gripp

  192. Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol

    Article • American Journal of Medical Genetics, January 2002, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Dr Karen W Gripp

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

    Article • Nature Genetics, June 2000, Springer Science + Business Media

    Dr Karen W Gripp

  195. Craniosynostosis: Molecular testing?a necessity for counseling

    Article • American Journal of Medical Genetics, May 2000, Wiley

    Dr Karen W Gripp

  196. Mutations in the humanTWIST gene

    Article • Human Mutation, May 2000, Hindawi Publishing Corporation

    Dr Karen W Gripp

  197. Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein

    Article • The American Journal of Human Genetics, March 2000, Elsevier

    Dr Karen W Gripp

  198. Mutations in the humanTWIST gene

    Article • Human Mutation, February 2000, Hindawi Publishing Corporation

    Dr Karen W Gripp

  199. Not Antley-Bixler syndrome

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Dr Karen W Gripp

  200. Not Antley‐Bixler syndrome

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics, February 1999, Wiley

    Dr Karen W Gripp

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

    Article • The Journal of Pediatrics, April 1998, Elsevier

    Dr Karen W Gripp

  203. Reply to Aymé and Philip

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Dr Karen W Gripp

  204. Reply to Aymé and Philip

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Dr Karen W Gripp

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

    Article • Skeletal Radiology, February 1997, Springer Science + Business Media

    Dr Karen W Gripp

  206. Extending the spectrum of distal arthrogryposis

    Article • American Journal of Medical Genetics, November 1996, Wiley

    Dr Karen W Gripp

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

    Article • American Journal of Medical Genetics, February 1996, Wiley

    Dr Karen W Gripp

  208. Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6

    Article • Cytogenetic and Genome Research, January 1995, Karger Publishers

    Dr Karen W Gripp