I. Verma

Ramprasad Vedam, P. Kadam, I. Verma, 2018, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

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

S. Bansal, I. Verma, V. Tiwari, 2020, European journal of medical genetics.

Outcome of Prenatally-Detected Fetal Ventriculomegaly

P. Paliwal, S. Bijarnia-Mahay, I. Verma, 2015, Journal of Fetal Medicine.

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

S. Kingsmore, E. Farrow, C. Saunders, 2015, The Indian Journal of Pediatrics.

Contingent screening for Down syndrome: A pilot study

I. Verma, R. Puri, Kanwal Gujral, 2014 .

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

I. Verma, S. Sandal, Veronica Arora, 2020, The Indian Journal of Pediatrics.

ACMG 2016 Update on Noninvasive Prenatal Testing for Fetal Aneuploidy: Implications for India

S. Bijarnia-Mahay, R. Dua-Puri, I. Verma, 2017, Journal of Fetal Medicine.

Advancing Horizons in Fetal Medicine

I. Verma, 2015, Journal of Fetal Medicine.

Sphingomyelinase enzyme assay in Niemann-Pick disease

I. Verma, G. Das, M. Kaur, 1993, Indian journal of pediatrics.

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

M. Kabra, C. Rehder, S. Nampoothiri, 2019, Jornal de Pediatria.

Mitochondrial DNA depletion syndrome causing liver failure

S. Bijarnia-Mahay, I. Verma, D. Goyal, 2014, Indian Pediatrics.

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

M. Kabra, S. Phadke, K. Mandal, 2020, JIMD reports.

Looking Back at Fetal Medicine in India in 2018, and Looking Forward to 2019

I. Verma, Veronica Arora, M. Lallar, 2019, Journal of Fetal Medicine.

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.

R. Saxena, I. Verma, A. Majumdar, 2011, Genetic testing and molecular biomarkers.

Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

R. Saxena, Yogesh Srivastava, M. Juneja, 2015 .

Antenatal Phenotype of Desbuquois Dysplasia

I. Verma, R. Puri, Benu Kumar, 2022, Indian Journal of Pediatrics.

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

M. Kabra, R. Saxena, N. Gupta, 2015, JIMD reports.

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

R. Saxena, I. Verma, Prashant Sharma, 2011, Clinical chemistry and laboratory medicine.

Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies.

R. Saxena, I. Verma, A. Majumdar, 2011, Genetic testing and molecular biomarkers.

HbA 2 values : a pilot study in North India

R. Saxena, I. Verma, Prashant Sharma, 2011 .

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

S. Aggarwal, R. Dua-Puri, I. Verma, 2018, Molecular Syndromology.

FISH is not Suitable as a Standalone Test for Detecting Fetal Chromosomal Abnormalities

P. Paliwal, I. Verma, M. Lall, 2015, Journal of Fetal Medicine.

A familial deletion 4q syndrome: An outcome of a paracentric inversion

I. Verma, R. Puri, M. Lall, 2012, Indian journal of human genetics.

Suzena Masih, A. Moirangthem, S. Phadke, 2022, American journal of medical genetics. Part A.

Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India

R. Pandey, I. Verma, R. Puri, 2013, The Indian Journal of Pediatrics.

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

R. Saxena, S. Bijarnia-Mahay, S. Kohli, 2020, Clinical genetics.

Fetal Medicine in India: Taking Stock of 2015, and Planning for 2016 at the Journal of Fetal Medicine

I. Verma, 2016, Journal of Fetal Medicine.

Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

K. Upadhyaya, I. Verma, A. Majumdar, 2016, Journal of human reproductive sciences.

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

S. Kohli, I. Verma, R. Puri, 2016, The Indian Journal of Pediatrics.

Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective

I. Verma, R. Puri, Veronica Arora, 2019, Journal of Fetal Medicine.

Clinical and biochemical studies in homocystinuria.

M. Kabra, M. Suri, I. Verma, 1995, Indian pediatrics.

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

R. Saxena, S. Kohli, I. Verma, 2011, The Indian journal of medical research.

Microphthalmos and anterior segment dysgenesis in a family.

N. Singh, I. Verma, S. Ghose, 1991, Ophthalmic paediatrics and genetics.

Juvenile chronic myelocytic leukemia--report of 10 cases.

H. Pati, I. Verma, L. S. Arya, 1995, Medical and pediatric oncology.

Burden of genetic disorders in india

I. Verma, 2000, The Southeast Asian journal of tropical medicine and public health.

Biotinidase deficiency—A treatable entity

M. Kabra, V. Kalra, S. Gulati, 2000, Indian journal of pediatrics.

Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Divya Agarwal, R. Saxena, D. Gupta, 2018, Annals of human genetics.

Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases)

M. Kabra, P. Menon, I. Verma, 2005 .

Split‐hand and split‐foot deformity inherited as an autosomal recessive trait

I. Verma, Sneh Bhargava, Rose Joseph, 1976, Clinical genetics.

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

M. Kabra, S. Phadke, P. Mistry, 2011, Indian pediatrics.

The presence of intersexuality in patients with advanced hypospadias and undescended gonads.

M. Rohatgi, P. Menon, I. Verma, 1987, The Journal of urology.

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

S. Kapoor, S. Phadke, A. Dalal, 2018, Indian Pediatrics.

Clinical and enzyme studies in Gaucher disease.

M. Kabra, A. Kher, I. Verma, 1996, Indian pediatrics.

The fatal fetal tumor: a geneticist’s perspective

Seema R. Gupta, I. Verma, Veronica Arora, 2019, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Hormonal therapy in undescended testes

D. Gupta, M. Rohatgi, P. Menon, 1991, Indian journal of pediatrics.

Clinical, cytogenetic & hormonal profile in extreme hypospadias with bilaterally descended testes.

M. Rohatgi, P. Menon, I. Verma, 1986, The Indian journal of medical research.

Guidelines for screening, diagnosis and management of hemoglobinopathies

D. Mohanty, R. Saxena, K. Ghosh, 2014, Indian journal of human genetics.

The changing scenario in prenatal diagnosis of genetic disorders: Genetics to genomics

S. Agarwal, R. Saxena, P. Paliwal, 2018, Current Medicine Research and Practice.

Hemoglobinopathies in India--clinical and laboratory aspects.

R. Saxena, S. Kohli, I. Verma, 2012, Clinics in laboratory medicine.

Sickle cell trait & disease among tribal communities in Orissa, Madhya Pradesh & Kerala.

I. Verma, G. Das, D. Gp, 1997, The Indian journal of medical research.

Probable breastmilk transmission of HIV to an infant.

P. Hari, I. Verma, V. Kalra, 1994, Indian pediatrics.

NGS based expanded pilot carrier screening study in North Indian population reveals unexpected results.

Kanika Singh, S. Bijarnia-Mahay, S. Kohli, 2020 .

Relation of Xmn-1 Polymorphism & Five Common Indian Mutations of Thalassaemia with Phenotypic Presentation in b-Thalassaemia

R. Saxena, I. Verma, D. Kaul, 2006 .

Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences

R. Saxena, S. Kohli, I. Verma, 2019, Journal of Fetal Medicine.

The Burden of Genetic Disorders in India and a Framework for Community Control

I. Verma, S. Bijarnia, 2002, Public Health Genomics.

GENETIC DISORDERS AND MEDICAL GENETICS IN INDIA

I. Verma, 2004 .

Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

R. Saxena, R. Sharma, I. Verma, 2003, Indian journal of pediatrics.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Hitesh Shah, S. Kapoor, M. Kabra, 2014, American journal of medical genetics. Part A.

Genetic Causes of Mental Retardation in India

I. Verma, 1988 .

Juvenile neuronal ceroid lipofuscinosis.

M. Kabra, V. Kalra, S. Gulati, 2000, Indian journal of pediatrics.

An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.

I. Verma, S. Agarwal, S. Bhargava, 1975, Birth defects original article series.

Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

S. Bijarnia-Mahay, I. Verma, R. Puri, 2014, Journal of Fetal Medicine.

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect.

M. Kabra, M. Suri, I. Verma, 1994, American journal of medical genetics.

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

R. Saxena, I. Verma, A. Arora, 2016, Atherosclerosis.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

S. Kapoor, S. Phadke, K. Mandal, 2016, Clinical genetics.

Prevalence of Cytogenetic Anomalies in Couples with Recurrent Miscarriages: A Case–control Study

I. Verma, A. Kaur, V. Kalotra, 2017, Journal of human reproductive sciences.

Recurrent and novel GLB1 mutations in India.

M. Kabra, S. Phadke, K. Girisha, 2015, Gene.

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

S. Agarwal, P. Paliwal, S. Bijarnia-Mahay, 2021, The Journal of Obstetrics and Gynecology of India.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Anselm H. C. Horn, Sharyn A. Lincoln, A. Verloes, 2019, Genetics in Medicine.

Genetic Approach to Diagnosis of Intellectual Disability

I. Verma, R. Puri, Moni Tuteja, 2016, The Indian Journal of Pediatrics.

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

R. Saxena, Sanghamitra Mishra, Sanika Apte, 2020, Journal of clinical lipidology.

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy

R. Saxena, S. Kohli, E. Thomas, 2020, The Indian Journal of Pediatrics.

Genetic Testing in Pediatric Epilepsy

I. Verma, Veronica Arora, Sameer Bhatia, 2020, Indian Journal of Pediatrics.

GLRB is the third major gene of effect in hyperekplexia.

B. Weschke, R. Shiang, M. Parker, 2013, Human molecular genetics.

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

I. Verma, M. Lall, Ratna Dua Puri, 2012, Clinics in laboratory medicine.

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease

V. Ramachandran, R. Saxena, S. Kohli, 2017, International journal of molecular and cellular medicine.

Inborn Errors of Metabolism in the Neonatal Period – Is it Time to Change our Practice?

I. Verma, S. Bijarnia, 2012, The Indian Journal of Pediatrics.

Inborn errors of amino acid metabolism in North India

I. Verma, M. Kaur, G. Prasad, 1994, Journal of Inherited Metabolic Disease.

Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

R. Saxena, S. Bijarnia-Mahay, I. Verma, 2017 .

Management of Wiskott-Aldrich syndrome

M. Kabra, I. Verma, A. Srivastava, 1996, Indian journal of pediatrics.

Co-existence of CPAM with Megacystis Due to Posterior Urethral Valve and Cardiac Dysfunction in a Monozygotic Twin Pregnancy

S. Bijarnia-Mahay, I. Verma, Veronica Arora, 2019, Journal of Fetal Medicine.

Primary Immunodeficiency Disorders in the Developing World: Data From A Hospital-Based Registry in India

A. Sachdeva, I. Verma, S. Yadav, 2014, Pediatric hematology and oncology.

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

S. Bijarnia-Mahay, I. Verma, R. Puri, 2020, American journal of medical genetics. Part A.

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

S. Thakur, P. Jha, I. Verma, 2011, Molecular Cytogenetics.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis

I. Verma, M. Kaur, 1995, Indian journal of pediatrics.

Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples

S. Agarwal, P. Paliwal, I. Verma, 2019, Obstetrics & Gynecology International Journal.

Neuro-Regression in a Child with Silvery Hair

I. Verma, Veronica Arora, Monika Jain, 2020, Indian Journal of Pediatrics.

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

A. Udyavar, R. Saxena, I. Verma, 2016, Indian pacing and electrophysiology journal.

Karyotyping of at risk fetuses by cordocentesis in advanced gestation.

M. Kabra, I. Verma, D. Chinnappan, 1996, The Indian journal of medical research.

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

Garima Chawla, R. Saxena, P. Bhai, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1

R. Saxena, S. Bohora, T. Singh, 2016, American journal of medical genetics. Part A.

Noninvasive Prenatal Testing: The Indian Perspective

I. Verma, 2014, Journal of Fetal Medicine.

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

F. Alkuraya, W. Rizzo, A. Alaiya, 2011, American journal of human genetics.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

Correlation of birth weight and head circumference with deviated nasal septum in newborns—a preliminary report

I. Verma, R. Deka, R. Bhatia, 1984, Indian journal of pediatrics.

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

R. Saxena, P. Bhai, I. Verma, 2019, Indian Journal of Dermatology.

Study Of Malformations And Down Syndrome In India (SOMDI) : Delhi Region

N. K. Anand, M. Kabra, P. Menon, 1998 .

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

I. Verma, R. Puri, S. Movva, 2012, Molecular Syndromology.

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

L. Jenkinson, J. Ruel, I. Verma, 2006, Indian journal of pediatrics.

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

R. Saxena, J. Häberle, V. Rüfenacht, 2018, Orphanet Journal of Rare Diseases.

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)

A. Viswabandya, S. Thakur, R. Saxena, 2011, The Indian journal of medical research.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

S. Ellard, J. Houghton, R. Saxena, 2014, The Indian Journal of Pediatrics.

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

R. Saxena, S. Kohli, I. Verma, 2012, Genetic testing and molecular biomarkers.

NOS3 gene Glu298Asp polymorphism and severity of disease in patients of ADPKD from North India

V. Ramachandran, R. Saxena, S. Kohli, 2017 .

Spectrum of Mutations in WFS1 Gene in Six Families with Wolfram Syndrome: Identification of Five Novel Mutations

Shanker, R. Saxena, P. Bhai, 2018 .

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

A. Moser, M. Kabra, S. Phadke, 2010, Journal of Applied Genetics.

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

I. Verma, R. Puri, K. Anand, 2018, The Indian Journal of Pediatrics.

Burden of genetic disorders in India.

I. Verma, 2000, Indian journal of pediatrics.

Cytogenetic Profile in Pediatric Acute Lymphoblastic Leukemia and Impact On Survival: Single Centre Experience From India.

N. Radhakrishnan, A. Sachdeva, I. Verma, 2009 .

Using Noninvasive Prenatal Testing for Aneuploidies in a Developing Country: Lessons Learnt

I. Verma, R. Puri, U. Kotecha, 2014, Journal of Fetal Medicine.

Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.

R. Saxena, I. Verma, R. R. Jacob, 2015, Genetic Testing and Molecular Biomarkers.

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

R. Saxena, D. Gupta, I. Verma, 2020, Molecular Syndromology.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

S. Phadke, A. Dalal, A. Sinha, 2015, The Indian journal of medical research.

Conformational Change of UGT1A1 by a Novel Missense Mutation (p.L131P) Causing Crigler-Najjar Syndrome Type I

R. Saxena, A. Mori, I. Verma, 2008, Journal of pediatric gastroenterology and nutrition.

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

S. Phadke, A. Dalal, R. Saxena, 2020, Molecular Genetics and Metabolism Reports.

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

M. Kabra, S. Thakur, R. Saxena, 2016, Genetic testing and molecular biomarkers.

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

R. Saxena, J. Häberle, V. Rüfenacht, 2015, Neurology India.

Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family

R. Saxena, S. Bijarnia-Mahay, I. Verma, 2019, Journal of Fetal Medicine.

Genetic Testing in Pediatric Ophthalmology

Kanika Singh, P. Paliwal, I. Verma, 2018, The Indian Journal of Pediatrics.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

S. Eichler, A. Rolfs, V. Ramachandran, 2019, Journal of Human Genetics.

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

R. Saxena, P. Bhai, I. Verma, 2020, Indian Journal of Gastroenterology.

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

I. Verma, S. Sandal, Veronica Arora, 2020, Congenital anomalies.

Genetic Bleeding Risk Score (GBRS) for Patients on Oral Anticoagulant Therapy

R. Saxena, R. Deb, I. Verma, 2013 .

Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2017 .

Corrigendum to: Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann–Pick Disease (Am J Med Genet A., (2016), 170A, 10, 2719-2730, 10.1002/ajmg.a.37817)

M. Kabra, S. Phadke, K. Mandal, 2017 .

Ethylmalonic encephalopathy in an Indian boy

R. Saxena, S. Yamaguchi, Y. Shigematsu, 2016, Indian Pediatrics.

Spectrum of severe skeletal dysplasias in North India

S. Thakur, I. Verma, R. Puri, 2007, Indian journal of pediatrics.

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

L. Tallon, Shuishu Wang, Xinyue Liu, 2013, Journal of Human Genetics.

Is the diagnostic yield influenced by the indication for fetal autopsy?

S. Bijarnia-Mahay, I. Verma, R. Puri, 2016, American journal of medical genetics. Part A.

The Role of Radiographs in Fetal Autopsy

I. Verma, R. Puri, 2014, Journal of Fetal Medicine.

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

A. V. D. van den Ouweland, D. Halley, B. Oostra, 1994, American journal of medical genetics.

Utility of molecular studies in incontinentia pigmenti patients

S. Thakur, R. Saxena, S. Kohli, 2011, The Indian journal of medical research.

ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys

N. Shah, S. Bijarnia-Mahay, I. Verma, 2018, Journal of Fetal Medicine.

Group B meningococcal meningitis in India.

M. Kabra, M. Suri, A. Rattan, 1994, Scandinavian journal of infectious diseases.

A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.

I. Verma, Veronica Arora, Sameer Bhatia, 2020, Clinical dysmorphology.

Current method for first and second trimester prenatal diagnosis: transabdominal chorionic villi sampling.

I. Verma, K. Buckshee, S. Parveen, 2010, Asia-Oceania journal of obstetrics and gynaecology.

Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic

S. Bijarnia-Mahay, I. Verma, R. Puri, 2021, Indian Pediatrics.

Exciting Times in Fetal Medicine Require a New Journal

I. Verma, 2014, Journal of Fetal Medicine.

Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

R. Saxena, I. Verma, 2010, Human genetics.

Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant.

M. Kabra, M. Suri, I. Verma, 1994, American journal of medical genetics.

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

R. Saxena, I. Verma, R. R. Jacob, 2016, Laboratory medicine.

Prenatal diagnosis of phenylketonuria.

R. Saxena, S. Kohli, E. Thomas, 2005, The Indian journal of medical research.

Menkes' Kinky Hair disease: new considerations.

M. Kabra, I. Verma, R. Manoj, 1996, Indian pediatrics.

Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

R. Saxena, I. Verma, R. Puri, 2020, Journal of Pediatric Genetics.

The Medical Termination of Pregnancy (Amendment) Act, 2021: A step towards liberation.

I. Verma, Veronica Arora, 2021, Indian journal of medical ethics.

Is the spectrum of mutations in Indian patients with cystic fibrosis different?

M. Kabra, I. Verma, M. Ghosh, 2000, American journal of medical genetics.

Delta F 508 molecular mutation in Indian children with cystic fibrosis.

S. Kabra, M. Kabra, I. Verma, 1996, The Indian journal of medical research.

Cystic fibrosis-an Indian perspective on recent advances in diagnosis and management

S. Kabra, M. Kabra, I. Verma, 1996, Indian journal of pediatrics.

Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies

I. Verma, R. Puri, U. Kotecha, 2015, Journal of Fetal Medicine.

A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis

I. Verma, S. Pal, Veronica Arora, 2020, Journal of Pediatric Genetics.

A Good Family History , the First Step in Reaching a Diagnosis

Kanika Singh, P. Paliwal, I. Verma, 2017 .

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

R. Saxena, S. Kohli, E. Thomas, 2005, Indian Journal of Ophthalmology.

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

R. Saxena, P. Bhai, S. Bijarnia-Mahay, 2019, American journal of medical genetics. Part A.

Prenatal diagnosis of β‐thalassaemia: experience in a developing country

R. Saxena, E. Thomas, I. Verma, 1998 .

Premature Coronary Artery Disease and Familial Hypercholesterolemia: Need for Early Diagnosis and Cascade Screening in the Indian Population

I. Verma, A. Arora, N. Setia, 2011, Cardiology research and practice.

Phenotype of 49,XXYYY

I. Verma, G. Das, Archana Shukla, 1993, Clinical genetics.

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

S. Mahmood, R. Saxena, S. Kohli, 2012, The Indian Journal of Pediatrics.

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2016, American journal of medical genetics. Part A.

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

R. Saxena, S. Kohli, I. Verma, 2012, Genetic testing and molecular biomarkers.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Hitesh Shah, S. Kapoor, M. Kabra, 2014, American journal of medical genetics. Part A.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

A. Rolfs, V. Ramachandran, V. Kher, 2019, Journal of Human Genetics.

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

G. Francis, Qian Wang, D. Gaudet, 2021, Lancet.