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1. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

2. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

3. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

5. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

6. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

7. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

8. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

9. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

10. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

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

13. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

14. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

15. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

16. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

17. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

18. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

20. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

21. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

22. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

23. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

24. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

25. DLG4-related synaptopathy: a new rare brain disorder

26. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

27. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

28. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

29. A dominant vimentin variant causes a rare syndrome with premature aging

30. Searching for secondary findings: considering actionability and preserving the right not to know

31. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

32. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

33. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

34. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

35. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

36. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

37. P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder

38. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

39. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

40. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

41. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

43. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

44. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

45. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis

46. Delineation of the clinical profile ofCNOT2haploinsufficiency and overview of the IDNADFS phenotype

47. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

48. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

49. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

50. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

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