List of works - Ramakrishnan Rajagopalan

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

scientific article published on 30 January 2020

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

scientific article published on 26 August 2019

Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018

scientific article published on 17 September 2019

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

scientific article published on 24 December 2015

Exome Sequencing in Individuals with Isolated Biliary Atresia

scientific article published on 17 February 2020

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

scientific article published on 03 March 2015

Genetic substructure of Kuwaiti population reveals migration history

scientific article

Genome maps across 26 human populations reveal population-specific patterns of structural variation

scientific article published on 04 March 2019

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

scientific article

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

scientific article published on 21 April 2015

High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.

scientific article published on 9 February 2017

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

scientific article published on 21 March 2019

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

scientific article published on 18 January 2018

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

scientific article

Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy ⬇️

scientific article published on July 1, 2013

Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.

scientific article

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

scientific article published on 15 June 2018

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

scientific article published on 19 July 2015

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

scientific article published on 27 September 2017

List of works by Ramakrishnan Rajagopalan

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Association of Enterovirus D68 with Acute Flaccid Myelitis, Philadelphia, Pennsylvania, USA, 2009-2018

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Exome Sequencing in Individuals with Isolated Biliary Atresia

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Genetic substructure of Kuwaiti population reveals migration history

Genome maps across 26 human populations reveal population-specific patterns of structural variation

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy ⬇️

Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.