Malavika Hebbar

Malavika Hebbar

UNVERIFIED PROFILE

Are you Malavika Hebbar?   Register this Author

Register author
Malavika Hebbar

Malavika Hebbar

Publications by authors named "Malavika Hebbar"

Are you Malavika Hebbar?   Register this Author

21Publications

505Reads

31Profile Views

Recent advances in epilepsy genomics and genetic testing.

F1000Res 2020 12;9. Epub 2020 Mar 12.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12688/f1000research.21366.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076331PMC
March 2020

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

Eur J Med Genet 2019 Jun 22;62(6):103528. Epub 2018 Aug 22.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183027
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386622PMC
June 2019

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

J Hum Genet 2019 Jan 18;64(1):17-21. Epub 2018 Oct 18.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0523-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291PMC
January 2019

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Eur J Hum Genet 2018 11 5;26(11):1582-1587. Epub 2018 Jul 5.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0209-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189076PMC
November 2018

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

Congenit Anom (Kyoto) 2018 Sep 20;58(5):181-182. Epub 2018 Feb 20.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cga.12275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338226PMC
September 2018

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

J Hum Genet 2018 Jul 25;63(8):935-939. Epub 2018 Apr 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0462-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014PMC
July 2018

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

Am J Med Genet A 2018 05;176(5):1232-1237

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918416PMC
May 2018

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

Am J Med Genet A 2018 01 17;176(1):156-160. Epub 2017 Nov 17.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38522DOI Listing
January 2018

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

J Hum Genet 2018 Jan 16;63(1):19-25. Epub 2017 Nov 16.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-017-0363-1DOI Listing
January 2018

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

Eur J Med Genet 2017 Oct 12;60(10):533-535. Epub 2017 Jul 12.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379073PMC
October 2017

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

J Hum Genet 2017 09 15;62(9):867. Epub 2017 Jun 15.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.65DOI Listing
September 2017

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

J Pediatr Genet 2017 Sep 7;6(3):191-193. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1599148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548534PMC
September 2017

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

Indian J Pediatr 2017 04 21;84(4):330-331. Epub 2016 Dec 21.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, 576104, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-016-2279-8DOI Listing
April 2017

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

J Hum Genet 2017 Mar 10;62(3):437-441. Epub 2016 Nov 10.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2016.136DOI Listing
March 2017

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

Am J Med Genet A 2016 11 18;170(11):2998-3003. Epub 2016 May 18.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37759DOI Listing
November 2016

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

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097934PMC
November 2016

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

BMJ Case Rep 2016 May 13;2016. Epub 2016 May 13.

Department of Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2016-215162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885364PMC
May 2016