149 results on '"Jhangiani, Shalini N"'
Search Results
2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
3. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
4. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
5. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
6. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
7. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
8. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
9. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits
10. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
11. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
12. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
13. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
14. Back Cover, Volume 43, Issue 7
15. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
16. Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome
17. Centers for Mendelian Genomics: A decade of facilitating gene discovery
18. Novel RETREG1 (FAM134B)founder allele is linked to HSAN2B and renal disease in a Turkish family
19. Variant‐level matching for diagnosis and discovery: Challenges and opportunities
20. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
21. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
22. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
23. Expanding the phenotypic and allelic spectrum ofSMG8: Clinical observations reveal overlap withSMG9 ‐associated disease trait
24. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
25. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
26. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
27. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
28. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
29. Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young
30. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
31. Exome variant discrepancies due to reference-genome differences
32. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
33. Risk of sudden cardiac death in EXOSC5‐related disease
34. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
35. A novel homozygousSLC13A5whole‐gene deletion generated byAlu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
36. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
37. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
38. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
39. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
40. Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases
41. Congenital diaphragmatic hernia as a prominent feature of aSPECC1L ‐relatedsyndrome
42. Human NK cell deficiency as a result of biallelic mutations in MCM10
43. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
44. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
45. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
46. 1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY)
47. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
48. Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation
49. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
50. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
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