Publications by authors named "Ishwar C Verma"

70Publications

Genetic Testing in Pediatric Epilepsy.

Indian J Pediatr 2020 Oct 22. Epub 2020 Oct 22.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-020-03512-8DOI Listing
October 2020

Biallelic Pathogenic Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

J Am Soc Nephrol 2020 Oct 5. Epub 2020 Oct 5.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

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http://dx.doi.org/10.1681/ASN.2020040478DOI Listing
October 2020

ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.

Congenit Anom (Kyoto) 2020 Sep 9. Epub 2020 Sep 9.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1111/cga.12391DOI Listing
September 2020

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Clin Genet 2020 Aug;98(2):198-199

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1111/cge.13796DOI Listing
August 2020

Neuro-Regression in a Child with Silvery Hair.

Indian J Pediatr 2020 Jun 20. Epub 2020 Jun 20.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-020-03381-1DOI Listing
June 2020

Unique skeletal manifestations in patients with Primrose syndrome.

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103967DOI Listing
August 2020

Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets.

Indian J Pediatr 2020 May 16. Epub 2020 May 16.

Institute of Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-020-03335-7DOI Listing
May 2020

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.

Mol Syndromol 2020 Feb 17;11(1):43-49. Epub 2020 Jan 17.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1159/000505506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109436PMC
February 2020

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Am J Med Genet A 2020 05 3;182(5):953-956. Epub 2020 Mar 3.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/ajmg.a.61534DOI Listing
May 2020

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

J Clin Lipidol 2020 Jan - Feb;14(1):35-45. Epub 2020 Jan 9.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2019.12.010DOI Listing
January 2020

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

J Pediatr 2020 01 9;216:44-50.e5. Epub 2019 Oct 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.058DOI Listing
January 2020

Inborn Errors of Metabolism in India- Where We are At!

Indian J Pediatr 2019 10 10;86(10):875-876. Epub 2019 Sep 10.

Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://link.springer.com/10.1007/s12098-019-03067-3
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http://dx.doi.org/10.1007/s12098-019-03067-3DOI Listing
October 2019

Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.

Eur J Med Genet 2020 Mar 23;63(3):103734. Epub 2019 Jul 23.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1016/j.ejmg.2019.103734DOI Listing
March 2020

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://www.e-ijd.org/text.asp?2019/64/2/143/254163
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http://dx.doi.org/10.4103/ijd.IJD_510_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440177PMC
April 2019

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

J Pediatr Endocrinol Metab 2018 Jul;31(7):799-807

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1515/jpem-2018-0023DOI Listing
July 2018

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.

Indian J Pediatr 2018 May 15;85(5):339-343. Epub 2018 Feb 15.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-017-2589-5DOI Listing
May 2018

Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.

Indian J Pediatr 2018 02 26;85(2):87-92. Epub 2017 Oct 26.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-017-2515-xDOI Listing
February 2018

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in Gene in an Indian Patient with Familial Breast Cancer.

Breast Care (Basel) 2017 May 21;12(2):114-116. Epub 2017 Mar 21.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://dx.doi.org/10.1159/000457786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447174PMC
May 2017

Relationship Between Morphology, Euploidy and Implantation Potential of Cleavage and Blastocyst Stage Embryos.

J Hum Reprod Sci 2017 Jan-Mar;10(1):49-57

Amity Institute of Molecular Biology and Genomics, Amity University, Noida, UP, India.

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http://dx.doi.org/10.4103/0974-1208.204013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405648PMC
May 2017

Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.

Methods Mol Biol 2017 ;1594:265-291

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/978-1-4939-6934-0_18DOI Listing
February 2018

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Atherosclerosis 2016 12 14;255:31-36. Epub 2016 Oct 14.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.10.028DOI Listing
December 2016

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Indian J Pediatr 2017 Jan 1;84(1):83-85. Epub 2016 Sep 1.

Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-016-2227-7DOI Listing
January 2017

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

Lab Med 2016 Nov 24;47(4):286-292. Epub 2016 Aug 24.

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1093/labmed/lmw031DOI Listing
November 2016

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing Electrophysiol J 2016 Jan-Feb;16(1):8-18. Epub 2016 Mar 30.

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ipej.2016.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936664PMC
August 2016

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

JIMD Rep 2017 24;31:15-27. Epub 2016 Mar 24.

Biochemical Genetics, Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/8904_2016_548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388645PMC
March 2016

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

Prenat Diagn 2015 Nov 3;35(11):1137-47. Epub 2015 Sep 3.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/pd.4663DOI Listing
November 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Clin Chim Acta 2015 Jul 10;447:1-7. Epub 2015 May 10.

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India.

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http://dx.doi.org/10.1016/j.cca.2015.04.040DOI Listing
July 2015

Citrin deficiency: A treatable cause of acute psychosis in adults.

Neurol India 2015 Mar-Apr;63(2):220-2

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.156285DOI Listing
May 2015

Newborn screening: need of the hour in India.

Indian J Pediatr 2015 Jan 9;82(1):61-70. Epub 2014 Dec 9.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, 110060, India,

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http://dx.doi.org/10.1007/s12098-014-1615-0DOI Listing
January 2015

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Indian J Pediatr 2015 May 29;82(5):474-7. Epub 2014 Oct 29.

Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1608-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390426PMC
May 2015

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

Pharmacol Rep 2014 Apr 3;66(2):243-9. Epub 2014 Mar 3.

Center of Medical Genetics, Sir Ganga Ram Hospital,, New Delhi.

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http://dx.doi.org/10.1016/j.pharep.2013.09.006DOI Listing
April 2014

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.

Indian J Hum Genet 2012 Sep;18(3):326-31

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi ; Amity Institute of Biotechnology, Amity University, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0971-6866.107987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656522PMC
September 2012

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

Thromb Res 2013 Jun 11;131(6):535-9. Epub 2013 Apr 11.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1016/j.thromres.2013.03.019DOI Listing
June 2013

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

J Hum Genet 2013 Apr 31;58(4):226-8. Epub 2013 Jan 31.

Department of Anesthesiology, Uniformed Services University, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/jhg.2012.156DOI Listing
April 2013

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Am J Med Genet A 2013 Jan 3;161A(1):76-81. Epub 2012 Dec 3.

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/ajmg.a.35692DOI Listing
January 2013

Hemoglobinopathies in India--clinical and laboratory aspects.

Clin Lab Med 2012 Jun;32(2):249-62

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.

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http://dx.doi.org/10.1016/j.cll.2012.04.011DOI Listing
June 2012

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

Clin Lab Med 2012 Jun;32(2):231-48

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.

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http://linkinghub.elsevier.com/retrieve/pii/S027227121200036
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http://dx.doi.org/10.1016/j.cll.2012.04.010DOI Listing
June 2012

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Am J Hum Genet 2011 Dec 17;89(6):745-50. Epub 2011 Nov 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2011.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234380PMC
December 2011

Past, present & future scenario of thalassaemic care & control in India.

Indian J Med Res 2011 Oct;134:507-21

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://icmr.nic.in/ijmr/2011/october/1016.pdf
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http://infiniteability.yolasite.com/resources/verma.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237251PMC
October 2011

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India.

Clin Chem Lab Med 2011 Sep 6;49(12):2069-72. Epub 2011 Sep 6.

Department of Hematology, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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https://www.degruyter.com/view/j/cclm.2011.49.issue-12/cclm.
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http://dx.doi.org/10.1515/CCLM.2011.696DOI Listing
September 2011

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

Neurol India 2010 Nov-Dec;58(6):852-6

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.73744DOI Listing
March 2011

Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

Indian J Pediatr 2006 Feb;73(2):163-5

Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/BF02820214DOI Listing
February 2006

Interpreting on electrocardiogram Part II, the complexes.

Indian J Pediatr 1986 Sep;53(5):629-639

Genetics Unit, Deptt. of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi.

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http://dx.doi.org/10.1007/BF02748668DOI Listing
September 1986