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1. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

2. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

3. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

5. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

7. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

8. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

9. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

10. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

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

12. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

13. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

14. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

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

16. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

17. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

18. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

19. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

20. The impact of the Turkish population variome on the genomic architecture of rare disease traits

23. FOXI3 pathogenic variants cause one form of craniofacial microsomia

25. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

26. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

27. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

28. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

29. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

30. The Deep Genome Project

31. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

32. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

33. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

34. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

35. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

36. A large CRISPR-induced bystander mutation causes immune dysregulation.

37. TLR7 gain-of-function genetic variation causes human lupus

38. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

39. Xq26.3 duplication in a boy with motor delay and low muscle tone refines the X-linked acrogigantism genetic locus

40. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

41. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

43. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

44. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension

45. Defining and Reducing Variant Classification Disparities

46. AHDC1 missense mutations in Xia-Gibbs syndrome

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

48. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

49. Prevalence of spinocerebellar ataxia 36 in a US population

50. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

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