about
Genetic substructure of Kuwaiti population reveals migration historyGermline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinHeterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.Genome maps across 26 human populations reveal population-specific patterns of structural variationUtility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndromeA highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing dataExome Sequencing in Individuals with Isolated Biliary AtresiaIdentification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeAlagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationAssociation of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018
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description
researcher (ORCID 0000-0002-5751-9239)
@en
wetenschapper
@nl
name
Ramakrishnan Rajagopalan
@en
Ramakrishnan Rajagopalan
@nl
type
label
Ramakrishnan Rajagopalan
@en
Ramakrishnan Rajagopalan
@nl
prefLabel
Ramakrishnan Rajagopalan
@en
Ramakrishnan Rajagopalan
@nl
P31
P496
0000-0002-5751-9239