List of works - Malavika Hebbar

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

scientific article

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ

scientific article published on 01 May 2018

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

scientific article published on 15 June 2017

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

scientific article published on 22 August 2018

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article published on 01 December 2016

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

scientific article

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

scientific article published on 21 December 2016

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

scientific article published on 05 July 2018

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

scientific article

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

scientific article published on 12 July 2017

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

scientific article published on 08 June 2016

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

scientific article published on 30 March 2017

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

scientific article published on 7 March 2017

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

scientific article published on 10 November 2016

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

scientific article published on 18 October 2018

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

scientific article published on 18 May 2016

Recent advances in epilepsy genomics and genetic testing

scientific article published on 12 March 2020

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

scientific article

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

scientific article published on 17 November 2017

List of works by Malavika Hebbar

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Recent advances in epilepsy genomics and genetic testing

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.