Karen W. Gripp
Reproducibility track record
3
assessed papers
88/100
mean reproducibility
1
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/3)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 3
last author: 0
Topics
—
Funders
—
Frequent co-authors
Georg Rosenberger 3Deborah L. Stabley 3Laura Baker 2Verena Kolbe 2Katia Sol‐Church 2Nick Gardner 1Katherine Robbins 1Stefanie Meien 1Theresa Nauth 1Eugenia Bifeld 1
Institutions
Alfred I. duPont Hospital for Children 3Community Health Systems - Dupont Hospital 3Universität Hamburg 3University Medical Center Hamburg-Eppendorf 3Geisinger Health System 1Children's National 1
Geography (author institutions)
US 3DE 3CA 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (3)
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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
2020 L1 No computation
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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
2015 L1 No computation
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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.
2012 L1 88/100
Complete publication record (300)
Request a reproduction →3 assessed by us (1 reproduced) · 297 not yet assessed — every PubMed paper on record, linked below.
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Evaluating the quality of Canadian pediatric sepsis clinical practice guidelines ↗Canadian Journal of Emergency Medicine · 2026 · PMID 41632377not yet assessed
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PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants ↗Research Square · 2026 · PMID 41646294not yet assessed
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PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants ↗Journal of Neuro-Oncology · 2026 · PMID 41784910not yet assessed
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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels ↗Genetics in Medicine Open · 2025 · PMID 40496714not yet assessed
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature ↗European Journal of Human Genetics · 2025 · PMID 40044822not yet assessed
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Practice Variation in Urine Collection Among Emergency Department Providers in Pre–toilet-trained Children With Suspected Urinary Tract Infection ↗Pediatric Emergency Care · 2025 · PMID 39960785not yet assessed
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362. Inhibition of Sterol Biosynthesis by Fentanyl and Implications for Fetal Fentanyl Syndrome ↗Biological Psychiatry · 2025not yet assessed
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Encephalocraniocutaneous lipomatosis—a neuroradiological perspective ↗Pediatric Radiology · 2025 · PMID 40748389not yet assessed
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Artificial intelligence supported facial feature analysis in medical genetics ↗Current Opinion in Pediatrics · 2025 · PMID 41190400not yet assessed
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Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies ↗Clinical Cancer Research · 2024 · PMID 39196581not yet assessed
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt ↗The American Journal of Human Genetics · 2024 · PMID 38325380not yet assessed
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Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS) ↗Molecular Psychiatry · 2024 · PMID 38844533not yet assessed
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<i>HRAS</i> -Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia ↗Circulation Arrhythmia and Electrophysiology · 2024 · PMID 38415356not yet assessed
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Epilepsy as a Novel Phenotype of BPTF-Related Disorders ↗Pediatric Neurology · 2024 · PMID 38936258not yet assessed
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Novel biallelic <scp> <i>ZNF335</i> </scp> variant causing primary microcephaly: <scp>A</scp> case report and radiological review ↗American Journal of Medical Genetics Part A · 2024 · PMID 38549403not yet assessed
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗Research Square · 2024 · PMID 38903062not yet assessed
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O21: Genetic testing stewardship program: A five year overview of a novel service delivery model ↗Genetics in Medicine Open · 2024not yet assessed
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not yet assessed
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms ↗American Journal of Medical Genetics Part A · 2023 · PMID 37377026not yet assessed
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A novel syndrome associated with prenatal fentanyl exposure ↗Genetics in Medicine Open · 2023 · PMID 39669238not yet assessed
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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder ↗Genetics in Medicine · 2023 · PMID 37454282not yet assessed
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The <scp>8th International RASopathies Symposium</scp>: Expanding research and care practice through global collaboration and advocacy ↗American Journal of Medical Genetics Part A · 2023 · PMID 37969032not yet assessed
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗medRxiv · 2023 · PMID 37503210not yet assessed
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P343: Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure ↗Genetics in Medicine Open · 2023not yet assessed
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not yet assessed
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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors ↗Nature Genetics · 2022 · PMID 35145301not yet assessed
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants ↗Genetics in Medicine · 2022 · PMID 36083290not yet assessed
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The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery ↗American Journal of Medical Genetics Part A · 2022 · PMID 35266292not yet assessed
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Central nervous system involvement in individuals with<scp>RASopathies</scp> ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2022 · PMID 36454176not yet assessed
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Expansion of the clinical and molecular spectrum of <i>WWOX</i>‐related epileptic encephalopathy ↗American Journal of Medical Genetics Part A · 2022 · PMID 36537114not yet assessed
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Decolonizing Global Surgery ↗Canadian Journal of Surgery · 2022 · PMID 35961679not yet assessed
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A dyadic approach to the delineation of diagnostic entities in clinical genomics ↗The American Journal of Human Genetics · 2021 · PMID 33417889not yet assessed
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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 · PMID 33658631not yet assessed
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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 · PMID 33783954not yet assessed
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development ↗Human Mutation · 2021 · PMID 33565190not yet assessed
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PRagMatic Pediatric Trial of Balanced vs nOrmaL Saline FlUid in Sepsis: study protocol for the PRoMPT BOLUS randomized interventional trial ↗Trials · 2021 · PMID 34742327not yet assessed
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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates ↗Cell Reports · 2021 · PMID 34107259not yet assessed
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<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus ↗Brain · 2021 · PMID 34382076not yet assessed
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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 · PMID 33594261not yet assessed
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Novel genetic testing model: A collaboration between genetic counselors and nephrology ↗American Journal of Medical Genetics Part A · 2021 · PMID 33475249not yet assessed
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Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ↗American Journal of Medical Genetics Part A · 2021 · PMID 33522091not yet assessed
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The Genetic Testing Stewardship Program: ↗Delaware Journal of Public Health · 2021 · PMID 35619979not yet assessed
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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 · 2021 · PMID 34237354not yet assessed
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Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics ↗Clinical Pharmacology & Therapeutics · 2021 · PMID 34254671not yet assessed
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Craniosynostosis is a feature of Costello syndrome ↗American Journal of Medical Genetics Part A · 2021 · PMID 34964243not yet assessed
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Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders ↗Paediatrics & Child Health · 2021 · PMID 34987676not yet assessed
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Response to Hamosh et al. ↗The American Journal of Human Genetics · 2021 · PMID 34478656not yet assessed
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome ↗Molecular Genetics and Metabolism · 2021not yet assessed
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Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic ↗Delaware Journal of Public Health · 2021 · PMID 35619972not yet assessed
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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors ↗medRxiv · 2021not yet assessed
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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors ↗Research Square · 2021not yet assessed
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Genetic testing stewardship program: a novel service delivery model in a pediatric healthcare system ↗Molecular Genetics and Metabolism · 2021not yet assessed
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KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome ↗Molecular Genetics and Metabolism · 2021not yet assessed
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Contributors ↗Elsevier eBooks · 2021not yet assessed
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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 · 2021not yet assessed
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RASopathies ↗Elsevier eBooks · 2021not yet assessed
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy ↗Nature Communications · 2020 · PMID 32703943not yet assessed
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Advancing <scp>RAS/RASopathy</scp> therapies: An NCI‐sponsored intramural and extramural collaboration for the study of <scp>RASopathies</scp> ↗American Journal of Medical Genetics Part A · 2020 · PMID 31913576not yet assessed
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GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder ↗Genetics in Medicine · 2020 · PMID 31949314not yet assessed
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in <scp><i>PIGQ</i></scp>: Report of seven new subjects and review of the literature ↗Journal of Inherited Metabolic Disease · 2020 · PMID 32588908not yet assessed
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De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype ↗American Journal of Medical Genetics Part A · 2020 · PMID 32031333not yet assessed
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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspectsEuropean Journal of Human Genetics · 2020 · PMID 32499600L1 No computation
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Inherited intragenic <scp><i>PBX1</i></scp> deletion: Expanding the phenotype ↗American Journal of Medical Genetics Part A · 2020 · PMID 33098248not yet assessed
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not yet assessed
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not yet assessed
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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder ↗Genetics in Medicine · 2020not yet assessed
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Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates&nbsp; ↗Research Square · 2020not yet assessed
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COSTELLO SYNDROME ↗2020not yet assessed
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Reanalysis of Clinical Exome Sequencing Data ↗New England Journal of Medicine · 2019 · PMID 31216405not yet assessed
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Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 ↗Human Mutation · 2019 · PMID 31595648not yet assessed
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Costello syndrome: Clinical phenotype, genotype, and management guidelines ↗American Journal of Medical Genetics Part A · 2019 · PMID 31222966not yet assessed
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome ↗Clinical Epigenetics · 2019 · PMID 31029150not yet assessed
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PEDIA: prioritization of exome data by image analysis ↗Genetics in Medicine · 2019 · PMID 31164752not yet assessed
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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome ↗The American Journal of Human Genetics · 2019 · PMID 31155282not yet assessed
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis ↗Brain · 2019 · PMID 31834374not yet assessed
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder ↗Genetics in Medicine · 2019 · PMID 31723249not yet assessed
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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies ↗European Journal of Human Genetics · 2019 · PMID 30622326not yet assessed
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The sixth international RASopathies symposium: Precision medicine—From promise to practice ↗American Journal of Medical Genetics Part A · 2019 · PMID 31825160not yet assessed
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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 · PMID 31551534not yet assessed
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Medically actionable comorbidities in adults with Costello syndrome ↗American Journal of Medical Genetics Part A · 2019 · PMID 31680412not yet assessed
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De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features2019not yet assessed
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Table B. [OMIM Entries for Costello Syndrome (View All in OMIM)].2019not yet assessed
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Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome ↗Figshare · 2019not yet assessed
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Identifying facial phenotypes of genetic disorders using deep learning ↗Nature Medicine · 2018 · PMID 30617323not yet assessed
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Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis ↗Cell · 2018 · PMID 29551269not yet assessed
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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP ↗Biological Psychiatry · 2018 · PMID 29724491not yet assessed
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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation ↗Genetics in Medicine · 2018 · PMID 29493581not yet assessed
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome ↗The American Journal of Human Genetics · 2018 · PMID 30554721not yet assessed
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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework ↗Human Mutation · 2018 · PMID 30311384not yet assessed
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients ↗American Journal of Medical Genetics Part A · 2018 · PMID 30055033not yet assessed
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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 · PMID 29300373not yet assessed
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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 · 2018 · PMID 29728705not yet assessed
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Proceedings of the fifth international RASopathies symposium: When development and cancer intersect ↗American Journal of Medical Genetics Part A · 2018 · PMID 30302932not yet assessed
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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 · PMID 30160832not yet assessed
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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 · PMID 30302924not yet assessed
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DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning ↗arXiv (Cornell University) · 2018not yet assessed
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Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
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PEDIA: Prioritization of Exome Data by Image Analysis ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients2018not yet assessed
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Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human HematopoiesisDSpace@MIT (Massachusetts Institute of Technology) · 2018not yet assessed
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 ↗The American Journal of Human Genetics · 2017 · PMID 29290338not yet assessed
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly ↗Brain · 2017 · PMID 28969385not yet assessed
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Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy ↗JCI Insight · 2017 · PMID 28289718not yet assessed
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements ↗The American Journal of Human Genetics · 2017 · PMID 28735859not yet assessed
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Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance ↗Clinical Genetics · 2017 · PMID 28881385not yet assessed
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders ↗Genome Medicine · 2017 · PMID 28807008not yet assessed
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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ↗Neurogenetics · 2017 · PMID 28842795not yet assessed
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Expanding the neurodevelopmental phenotype of<i>PURA</i>syndrome ↗American Journal of Medical Genetics Part A · 2017 · PMID 29150892not yet assessed
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Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp ↗American Journal of Medical Genetics Part A · 2017 · PMID 28371260not yet assessed
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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 · PMID 28374929not yet assessed
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Constitutional <i><scp>LZTR1</scp></i> mutation presenting with a unilateral vestibular schwannoma in a teenager ↗Clinical Genetics · 2017 · PMID 28295212not yet assessed
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Attenuated phenotype of Costello syndrome and early death in a patient with an <i><scp>HRAS</scp></i> mutation (c.<scp>179G</scp>>T; p.<scp>Gly60Val</scp>) affecting signalling dynamics ↗Clinical Genetics · 2017 · PMID 28139825not yet assessed
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A novel patient with an attenuated Costello syndrome phenotype due to an <i>HRAS</i> mutation affecting codon 146—Literature review and update ↗American Journal of Medical Genetics Part A · 2017 · PMID 28328122not yet assessed
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Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient ↗Frontiers in Oncology · 2017 · PMID 28421158not yet assessed
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Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD) ↗European Journal of Paediatric Neurology · 2017not yet assessed
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not yet assessed
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not yet assessed
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ↗Nature Genetics · 2016 · PMID 27841880not yet assessed
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution ↗JCI Insight · 2016 · PMID 27631024not yet assessed
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A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair ↗American Journal of Medical Genetics Part A · 2016 · PMID 27264673not yet assessed
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Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation ↗American Journal of Medical Genetics Part A · 2016 · PMID 27191687not yet assessed
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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 · PMID 27112773not yet assessed
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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway ↗American Journal of Medical Genetics Part A · 2016 · PMID 27155140not yet assessed
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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 · PMID 27589201not yet assessed
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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in <i><scp>TBCD</scp></i>: further delineation of a new chaperone‐mediated tubulinopathy ↗Clinical Genetics · 2016 · PMID 27807845not yet assessed
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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 · PMID 27119594not yet assessed
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Lateral Meningocele SyndromeUniversity of Washington, Seattle eBooks · 2016not yet assessed
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Abstract 18770: Elucidation of MRAS-Mediated Noonan Syndrome With Cardiac Hypertrophy2016not yet assessed
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Table 2. [NOTCH3 Pathogenic Variants Discussed in This GeneReview].2016not yet assessed
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Figure 1. [Numerous lateral meningoceles (see arrows)...].2016not yet assessed
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Table 1. [Molecular Genetic Testing Used in Lateral Meningocele Syndrome].2016not yet assessed
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Figure 2. [Photographs of individuals with lateral...].2016not yet assessed
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X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD)Queensland's institutional digital repository (The University of Queensland) · 2016not yet assessed
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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 · PMID 26178382not yet assessed
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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 · PMID 25730767not yet assessed
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure ↗Genetics in Medicine · 2015 · PMID 26248010not yet assessed
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies ↗The American Journal of Human Genetics · 2015 · PMID 25865493not yet assessed
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ↗Human Mutation · 2015 · PMID 26507355not yet assessed
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Mutations in <i><scp>RIT1</scp></i> cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype ↗Clinical Genetics · 2015 · PMID 25959749not yet assessed
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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 · PMID 25853300not yet assessed
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An attenuated phenotype of Costello syndrome in three unrelated individuals with a <i>HRAS</i> c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesAmerican Journal of Medical Genetics Part A · 2015 · PMID 25914166L1 No computation
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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 · 2015 · PMID 26572961not yet assessed
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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 · PMID 25900621not yet assessed
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Differentiating between copy‐number‐variation and gain‐of‐function mutation ↗American Journal of Medical Genetics Part A · 2015 · PMID 26137925not yet assessed
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191: Pediatric Resident Driven Health Advocacy Projects: Five Years of Success ↗Paediatrics & Child Health · 2015not yet assessed
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Facial Bones ↗Oxford University Press eBooks · 2015not yet assessed
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ↗Nature Genetics · 2014 · PMID 24705253not yet assessed
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Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> ↗American Journal of Medical Genetics Part A · 2014 · PMID 24942156not yet assessed
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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy ↗The American Journal of Human Genetics · 2014 · PMID 25105227not yet assessed
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Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome ↗American Journal of Medical Genetics Part A · 2014 · PMID 25394726not yet assessed
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Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome ↗American Journal of Medical Genetics Part A · 2014 · PMID 25346259not yet assessed
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Early-Lethal Costello Syndrome Due to Rare <i>HRAS</i> Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease ↗Pediatric and Developmental Pathology · 2014 · PMID 25133308not yet assessed
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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy ↗The American Journal of Human Genetics · 2014not yet assessed
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Novel <i>SMAD4</i> mutation causing Myhre syndrome ↗American Journal of Medical Genetics Part A · 2014 · PMID 24715504not yet assessed
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Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel <i>FBLN5</i> mutation ↗American Journal of Medical Genetics Part A · 2014 · PMID 24962763not yet assessed
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism ↗Nature Genetics · 2013 · PMID 24076603not yet assessed
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus ↗The American Journal of Human Genetics · 2013 · PMID 23332918not yet assessed
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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 · PMID 23383720not yet assessed
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Handbook of Physical Measurements ↗Oxford University Press eBooks · 2013not yet assessed
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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 · PMID 23813913not yet assessed
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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 · PMID 23918763not yet assessed
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Assessing genotype–phenotype correlation in Costello syndrome using a severity score ↗Genetics in Medicine · 2013 · PMID 23429430not yet assessed
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Orthopedic manifestations and implications for individuals with Costello syndrome ↗American Journal of Medical Genetics Part A · 2013 · PMID 23813656not yet assessed
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Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas–Papas Syndrome ↗American Journal of Medical Genetics Part A · 2013 · PMID 23610050not yet assessed
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Neuromotor synapses in Escobar syndrome ↗American Journal of Medical Genetics Part A · 2013 · PMID 24038971not yet assessed
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Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies ↗Pediatric Blood & Cancer · 2013 · PMID 23729388not yet assessed
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Keratoconus in Costello Syndrome ↗American Journal of Medical Genetics Part A · 2013 · PMID 23494969not yet assessed
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Limbs ↗Oxford University Press eBooks · 2013not yet assessed
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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 · PMID 23918324not yet assessed
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Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome ↗American Journal of Medical Genetics Part A · 2013not yet assessed
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Uniparental Disomy is Associated with Embryonal Rhabdomyosarcoma in Costello Syndrome and Nonsyndromic Patients: From Core-Side to Bed-Side and Back Again, Impact of Core Laboratories on Biomedical ResearchEurope PMC (PubMed Central) · 2013not yet assessed
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Measurements for Specific Syndromes ↗Oxford University Press eBooks · 2013not yet assessed
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Head Circumference (Occipitofrontal Circumference, OFC) ↗Oxford University Press eBooks · 2013not yet assessed
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Abstract 3813: Uniparental disomy is associated with embryonal rhabdomyosarcoma in Costello Syndrome and nonsyndromic patients. ↗Cancer Research · 2013not yet assessed
-
Abstract 4547: High-throughput screen to identify compounds targeted to embryonal rhabdomyosarcoma harboring mutant HRAS using cells derived from a pediatric Costello syndrome patient. ↗Cancer Research · 2013not yet assessed
-
Skin and Hair ↗Oxford University Press eBooks · 2013not yet assessed
-
Prenatal Ultrasound Measurements ↗Oxford University Press eBooks · 2013not yet assessed
-
Chest and Trunk ↗Oxford University Press eBooks · 2013not yet assessed
-
Dermatoglyphics and Trichoglyphics ↗Oxford University Press eBooks · 2013not yet assessed
-
Use of Radiographs for Measurement ↗Oxford University Press eBooks · 2013not yet assessed
-
Proportional Growth and Normal Variants ↗Oxford University Press eBooks · 2013not yet assessed
-
An Approach to the Child with Dysmorphic Features ↗Oxford University Press eBooks · 2013not yet assessed
-
Postmortem Organ Weights ↗Oxford University Press eBooks · 2013not yet assessed
-
Magel-cause-Prader-Willi-supplemental2013not yet assessed
-
Developmental Data ↗Oxford University Press eBooks · 2013not yet assessed
-
Craniofacies ↗Oxford University Press eBooks · 2013not yet assessed
-
Genitalia ↗Oxford University Press eBooks · 2013not yet assessed
-
Introduction ↗Oxford University Press eBooks · 2013not yet assessed
-
Measurement ↗Oxford University Press eBooks · 2013not yet assessed
-
Weight ↗Oxford University Press eBooks · 2013not yet assessed
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes ↗Nature Genetics · 2012 · PMID 22729224not yet assessed
-
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome ↗Nature Genetics · 2012 · PMID 22366783not yet assessed
-
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 · PMID 22228622not yet assessed
-
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations ↗Genetics in Medicine · 2012 · PMID 22261753not yet assessed
-
Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel <i>FOXC1</i> mutation ↗American Journal of Medical Genetics Part A · 2012 · PMID 23239455not yet assessed
-
Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis ↗American Journal of Medical Genetics Part A · 2012 · PMID 22965664not yet assessed
-
Normative growth charts for individuals with Costello syndrome ↗American Journal of Medical Genetics Part A · 2012 · PMID 22887473not yet assessed
-
A novel <i>HRAS</i> substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human developmentAmerican Journal of Medical Genetics Part A · 2012 · PMID 22821884L1 88/100
-
Transmission of the rare <i>HRAS</i> mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype ↗American Journal of Medical Genetics Part A · 2012 · PMID 22488832not yet assessed
-
Special section. Syndrome‐specific growth charts ↗American Journal of Medical Genetics Part A · 2012 · PMID 23038170not yet assessed
-
Figure 1. [Four girls who attended the...].2012not yet assessed
-
Figure 2. [Typical facial features seen in...].2012not yet assessed
-
Table 2. [Selected HRAS Pathogenic Allelic Variants].2012not yet assessed
-
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome ↗American Journal of Medical Genetics Part A · 2011 · PMID 21344638not yet assessed
-
Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25 ↗American Journal of Medical Genetics Part A · 2011 · PMID 21548129not yet assessed
-
Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · PMID 21495173not yet assessed
-
Long‐term survival in TARP syndrome and confirmation of <i>RBM10</i> as the disease‐causing gene ↗American Journal of Medical Genetics Part A · 2011 · PMID 21910224not yet assessed
-
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C ↗American Journal of Medical Genetics Part A · 2011 · PMID 21438134not yet assessed
-
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · PMID 21495179not yet assessed
-
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 · PMID 21337689not yet assessed
-
Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy ↗American Journal of Medical Genetics Part A · 2011 · PMID 21344626not yet assessed
-
Lateral meningocele syndrome and Hajdu–Cheney syndrome: Different disorders with overlapping phenotypes ↗American Journal of Medical Genetics Part A · 2011 · PMID 21671395not yet assessed
-
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome ↗American Journal of Medical Genetics Part A · 2011 · PMID 21834037not yet assessed
-
Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations ↗Genetics in Medicine · 2011not yet assessed
-
Clinical Approach to Craniosynostosis ↗Monographs in human genetics · 2011not yet assessed
-
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with <i>HRAS</i> mutations as the likely cause of structural brain and spinal cord abnormalities ↗American Journal of Medical Genetics Part A · 2010 · PMID 20425820not yet assessed
-
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? ↗American Journal of Medical Genetics Part A · 2010 · PMID 20583147not yet assessed
-
Costello Syndrome ↗2010not yet assessed
-
X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis ↗American Journal of Medical Genetics Part A · 2010 · PMID 20949603not yet assessed
-
not yet assessed
-
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back ↗American Journal of Medical Genetics Part A · 2009 · PMID 20014119not yet assessed
-
Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism ↗American Journal of Medical Genetics Part A · 2009 · PMID 19206176not yet assessed
-
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia ↗Prenatal Diagnosis · 2009 · PMID 19382114not yet assessed
-
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome ↗American Journal of Medical Genetics Part A · 2009 · PMID 19919001not yet assessed
-
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes ↗American Journal of Medical Genetics Part A · 2009 · PMID 19353582not yet assessed
-
Living with Costello syndrome: Quality of life issues in older individuals ↗American Journal of Medical Genetics Part A · 2009 · PMID 20034064not yet assessed
-
Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype? ↗American Journal of Medical Genetics Part A · 2008 · PMID 18247425not yet assessed
-
Preaxial hallucal polydactyly as a marker for diabetic embryopathy ↗Birth Defects Research Part A Clinical and Molecular Teratology · 2008 · PMID 18798547not yet assessed
-
The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders ↗American Journal of Medical Genetics Part A · 2008 · PMID 18386799not yet assessed
-
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 · PMID 18412122not yet assessed
-
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts ↗American Journal of Medical Genetics Part A · 2008 · PMID 18203204not yet assessed
-
The Molecular Basis of Costello Syndrome ↗Monographs in human genetics · 2008not yet assessed
-
Clarification of previously reported Costello syndrome patients ↗American Journal of Medical Genetics Part A · 2008 · PMID 18302240not yet assessed
-
Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6 ↗Cytogenetics and Cell Genetics · 2008 · PMID 7789183not yet assessed
-
Neuromuscular and Chest Wall Disorders ↗Elsevier eBooks · 2008not yet assessed
-
Contributors ↗Elsevier eBooks · 2008not yet assessed
-
Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome ↗American Journal of Medical Genetics Part A · 2007 · PMID 17551924not yet assessed
-
Costello syndrome and related disorders ↗Current Opinion in Pediatrics · 2007 · PMID 18025929not yet assessed
-
Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome ↗American Journal of Medical Genetics Part A · 2007 · PMID 17567882not yet assessed
-
Longitudinal assessment of cognitive characteristics in Costello syndrome ↗American Journal of Medical Genetics Part A · 2007 · PMID 17963256not yet assessed
-
Selective IgM deficiency and 22q11.2 deletion syndrome ↗Annals of Allergy Asthma & Immunology · 2007 · PMID 17650836not yet assessed
-
Somatic mosaicism for an <i>HRAS</i> mutation causes Costello syndrome ↗American Journal of Medical Genetics Part A · 2006 · PMID 16969868not yet assessed
-
Paternal bias in parental origin of<i>HRAS</i>mutations in Costello syndrome ↗Human Mutation · 2006 · PMID 16835863not yet assessed
-
CHEST WALL ABNORMALITIES ↗Elsevier eBooks · 2006not yet assessed
-
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome ↗Neurology · 2005 · PMID 15668422not yet assessed
-
Tumor predisposition in Costello syndrome ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2005 · PMID 16010679not yet assessed
-
Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children ↗Human Genetics · 2005 · PMID 15933846not yet assessed
-
<i>HRAS</i> mutation analysis in Costello syndrome: Genotype and phenotype correlation ↗American Journal of Medical Genetics Part A · 2005 · PMID 16329078not yet assessed
-
The adult phenotype in Costello syndrome ↗American Journal of Medical Genetics Part A · 2005 · PMID 15940703not yet assessed
-
Craniosynostosis: Another feature of the 22q11.2 deletion syndrome ↗American Journal of Medical Genetics Part A · 2005 · PMID 16001439not yet assessed
-
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy ↗American Journal of Medical Genetics Part A · 2005 · PMID 15637729not yet assessed
-
Wilms tumor in an 11‐year‐old with hemihyperplasia ↗American Journal of Medical Genetics Part A · 2005 · PMID 16278900not yet assessed
-
Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005) ↗American Journal of Medical Genetics Part A · 2005not yet assessed
-
Facial Bones ↗2005not yet assessed
-
not yet assessed
-
not yet assessed
-
Further delineation of Kabuki syndrome in 48 well‐defined new individuals ↗American Journal of Medical Genetics Part A · 2004 · PMID 15690370not yet assessed
-
Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis) ↗Plastic & Reconstructive Surgery · 2004 · PMID 15253176not yet assessed
-
Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome ↗American Journal of Medical Genetics Part A · 2004 · PMID 15264279not yet assessed
-
Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus: A Rare Brain Malformation Syndrome Associated with Mental Retardation and Seizures ↗Neuropediatrics · 2004 · PMID 15627943not yet assessed
-
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome ↗American Journal of Medical Genetics Part A · 2004 · PMID 15264285not yet assessed
-
Elevated catecholamine metabolites in patients with Costello syndrome ↗American Journal of Medical Genetics Part A · 2004 · PMID 15211656not yet assessed
-
Human Chromosome 7: DNA Sequence and Biology ↗Science · 2003 · PMID 12690205not yet assessed
-
22q11.2 deletion syndrome and selective igm deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency ↗American Journal of Medical Genetics Part A · 2003 · PMID 15103727not yet assessed
-
Clinical and molecular diagnosis should be consistent ↗American Journal of Medical Genetics Part A · 2003 · PMID 12910503not yet assessed
-
Molecular characterization of Pfeiffer syndrome: Implications for prognosis and genetic counseling.The American Journal of Human Genetics · 2003not yet assessed
-
Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol ↗American Journal of Medical Genetics · 2002 · PMID 11857556not yet assessed
-
Further delineation of cardiac abnormalities in Costello syndrome ↗American Journal of Medical Genetics · 2002 · PMID 12210337not yet assessed
-
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 · PMID 11280946not yet assessed
-
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia ↗American Journal of Medical Genetics · 2001 · PMID 11424144not yet assessed
-
Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report ↗Plastic & Reconstructive Surgery · 2001 · PMID 11743367not yet assessed
-
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination ↗Nature Genetics · 2000 · PMID 10835638not yet assessed
-
Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein ↗The American Journal of Human Genetics · 2000 · PMID 10712202not yet assessed
-
Mutations in the humanTWIST gene ↗Human Mutation · 2000 · PMID 10649491not yet assessed
-
Second case of bladder carcinoma in a patient with Costello syndrome ↗American Journal of Medical Genetics · 2000 · PMID 10678668not yet assessed
-
Mutations in the humanTWIST gene ↗Human Mutation · 2000not yet assessed
-
Craniosynostosis: Molecular testing?a necessity for counseling ↗American Journal of Medical Genetics · 2000 · PMID 10797444not yet assessed
-
Severe Saethre-Chotzen syndrome in an infant with a complex chromosome rearrangement ↗Genetics in Medicine · 2000not yet assessed
-
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 · PMID 9934984not yet assessed
-
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother ↗American Journal of Medical Genetics · 1999 · PMID 10069704not yet assessed
-
Not Antley-Bixler syndrome ↗American Journal of Medical Genetics · 1999 · PMID 10076887not yet assessed
-
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother ↗American Journal of Medical Genetics · 1999not yet assessed
-
Not Antley‐Bixler syndrome ↗American Journal of Medical Genetics · 1999not yet assessed
-
Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3 ↗The Journal of Pediatrics · 1998 · PMID 9580776not yet assessed
-
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III ↗American Journal of Medical Genetics · 1998 · PMID 9714439not yet assessed
-
Imaging studies in a unique familial dysmyelinating disorder. ↗PubMed · 1998 · PMID 9726484not yet assessed
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. ↗PubMed · 1997 · PMID 9042914not yet assessed
-
Lateral meningocele syndrome: Three new patients and review of the literature ↗American Journal of Medical Genetics · 1997 · PMID 9188658not yet assessed
-
Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda ↗Skeletal Radiology · 1997 · PMID 9060107not yet assessed
-
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance ↗American Journal of Medical Genetics · 1997 · PMID 9021018not yet assessed
-
Nasal dimple as part of the 22q11.2 deletion syndrome ↗American Journal of Medical Genetics · 1997 · PMID 9096759not yet assessed
-
Nasal dimple as part of the 22q11.2 deletion syndrome ↗American Journal of Medical Genetics · 1997not yet assessed
-
Lateral meningocele syndrome: Three new patients and review of the literature ↗American Journal of Medical Genetics · 1997not yet assessed
-
Reply to Aymé and Philip ↗American Journal of Medical Genetics · 1997not yet assessed
-
Reply to Aymé and Philip ↗American Journal of Medical Genetics · 1997not yet assessed
-
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation ↗American Journal of Medical Genetics · 1996 · PMID 8834052not yet assessed
-
Extending the spectrum of distal arthrogryposis ↗American Journal of Medical Genetics · 1996 · PMID 8923937not yet assessed
-
Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld Syndrome ↗Clinical Dysmorphology · 1996 · PMID 8905199not yet assessed
-
Extending the spectrum of distal arthrogryposis ↗American Journal of Medical Genetics · 1996not yet assessed
-
Common fragile sites in couples with recurrent spontaneous abortions ↗American Journal of Medical Genetics · 1989 · PMID 2495722not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Gripp K” paper on PubMed ↗