All Stories

  1. Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS)
  2. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
  3. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
  4. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
  5. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
  6. Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy
  7. Central nervous system involvement in individuals withRASopathies
  8. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
  9. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies
  10. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
  11. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
  12. Craniosynostosis is a feature of Costello syndrome
  13. Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic
  14. The Genetic Testing Stewardship Program:
  15. Response to Hamosh et al.
  16. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
  17. Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics
  18. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
  19. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
  20. Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders
  21. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
  22. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
  23. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
  24. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  25. Novel genetic testing model: A collaboration between genetic counselors and nephrology
  26. 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting
  27. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
  28. A dyadic approach to the delineation of diagnostic entities in clinical genomics
  29. Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates 
  30. Inherited intragenic PBX1 deletion: Expanding the phenotype
  31. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
  32. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
  33. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
  34. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
  35. GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
  36. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
  37. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
  38. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
  39. Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies
  40. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
  41. The sixth international RASopathies symposium: Precision medicine—From promise to practice
  42. PEDIA: prioritization of exome data by image analysis
  43. Medically actionable comorbidities in adults with Costello syndrome
  44. 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
  45. Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution
  46. Costello syndrome: Clinical phenotype, genotype, and management guidelines
  47. Reanalysis of Clinical Exome Sequencing Data
  48. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
  49. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
  50. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
  51. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
  52. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
  53. Identifying facial phenotypes of genetic disorders using deep learning
  54. PEDIA: Prioritization of Exome Data by Image Analysis
  55. ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
  56. Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
  57. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
  58. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy
  59. Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)
  60. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
  61. Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool
  62. Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework
  63. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
  64. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis
  65. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  66. Expanding the neurodevelopmental phenotype of PURA syndrome
  67. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
  68. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
  69. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
  70. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
  71. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
  72. Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager
  73. Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome
  74. Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient
  75. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp
  76. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
  77. A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146—Literature review and update
  78. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy
  79. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy
  80. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
  81. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma
  82. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
  83. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair
  84. Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation
  85. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
  86. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting
  87. 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
  88. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
  89. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
  90. 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
  91. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
  92. Differentiating between copy‐number‐variation and gain‐of‐function mutation
  93. Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype
  94. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
  95. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
  96. The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
  97. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
  98. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
  99. Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
  100. Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease
  101. Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome
  102. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
  103. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
  104. Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novelFBLN5mutation
  105. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
  106. Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion
  107. Novel SMAD4 mutation causing Myhre syndrome
  108. Screening children with neurofibromatosis type 1 for autism spectrum disorder
  109. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
  110. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
  111. Neuromotor synapses in Escobar syndrome
  112. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
  113. Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
  114. Assessing genotype–phenotype correlation in Costello syndrome using a severity score
  115. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
  116. Orthopedic manifestations and implications for individuals with Costello syndrome
  117. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies
  118. Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas–Papas Syndrome
  119. Keratoconus in Costello Syndrome
  120. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
  121. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
  122. Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel FOXC1 mutation
  123. Special section. Syndrome‐specific growth charts
  124. Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis
  125. Normative growth charts for individuals with Costello syndrome
  126. 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
  127. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
  128. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
  129. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations
  130. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
  131. Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
  132. Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene
  133. Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations
  134. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
  135. Lateral meningocele syndrome and Hajdu–Cheney syndrome: Different disorders with overlapping phenotypes
  136. Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25
  137. Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?
  138. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review
  139. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
  140. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
  141. Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy
  142. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review
  143. Clinical Approach to Craniosynostosis
  144. X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis
  145. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
  146. 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
  147. Costello Syndrome
  148. Craniosynostosis Syndromes
  149. Living with Costello syndrome: Quality of life issues in older individuals
  150. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
  151. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome
  152. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes
  153. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia
  154. Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
  155. Preaxial hallucal polydactyly as a marker for diabetic embryopathy
  156. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
  157. The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders
  158. Clarification of previously reported Costello syndrome patients
  159. Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?
  160. Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
  161. Neuromuscular and Chest Wall Disorders
  162. The Molecular Basis of Costello Syndrome
  163. Costello syndrome and related disorders
  164. Longitudinal assessment of cognitive characteristics in Costello syndrome
  165. Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome
  166. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome
  167. Judith Hall, Judith Allanson, Karen Gripp, Anne Slavotinek (eds): Handbook of Physical Measurement, 2007
  168. Somatic mosaicism for an HRAS mutation causes Costello syndrome
  169. Paternal bias in parental origin ofHRASmutations in Costello syndrome
  170. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
  171. Wilms tumor in an 11‐year‐old with hemihyperplasia
  172. Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005)
  173. Tumor predisposition in Costello syndrome
  174. The adult phenotype in Costello syndrome
  175. Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children
  176. C raniosynostosis Syndromes
  177. C ostello Syndrome
  178. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
  179. Craniosynostosis: Another feature of the 22q11.2 deletion syndrome
  180. Further delineation of Kabuki syndrome in 48 well‐defined new individuals
  181. Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus: A Rare Brain Malformation Syndrome Associated with Mental Retardation and Seizures
  182. Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis)
  183. Genetics of Colorectal Cancer
  184. Human Chromosome 7: DNA Sequence and Biology
  185. Further delineation of cardiac abnormalities in Costello syndrome
  186. Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol
  187. Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia
  188. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
  189. Craniosynostosis: Molecular testing?a necessity for counseling
  190. Mutations in the humanTWIST gene
  191. Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein
  192. Mutations in the humanTWIST gene
  193. Not Antley-Bixler syndrome
  194. Not Antley‐Bixler syndrome
  195. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother
  196. Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3
  197. Reply to Aymé and Philip
  198. Reply to Aymé and Philip
  199. Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda
  200. Extending the spectrum of distal arthrogryposis
  201. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
  202. Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6