List of Selected Abstracts for E-Poster Display

Abstract ID

Presenting Author

Abstract Title

NA

Anvita Kulshrestha

Proteomic analysis reveals differential protein expression with respect to blood transfusion in Sickle Cell Disease (SCD) patients

576

Ashutosh Halder

Genetics of Polycystic Ovary Syndrome (PCOS): our experience

575

Madhumita Roy Chowdhury

Genetic variant landscape of Childhood Interstitial Lung Diseases in India

250

Suvarna Ghansham Magar

Clinical profile and outcome of genetically confirmed glycogen storage diseases from Genetic Clinic in Marathwada, India

249

Rajesh K Maurya

Cockyane syndrome cases in Indian population and estimating if c.4063-1G>C is a common variant

247

Dolat Singh Shekhawat

Evaluating Economic Feasibility: A comparative Study of ddPCR and NGS-based NIPT for Fetal Aneuploidy Screening in Low-middle-income Countries

246

Vanshika Ahuja

Paraspeckle biology in auto-regulatory protein Fused in Sarcoma associated Amyotrophic Lateral Sclerosis

241

Jitu Sharma

Genetic insights on relationships between hypertension, diabetes and COVID-19: a systematic review of Mendelian randomization studies

232

Naman Mangukia

From Antiquity to Modernity: Unveiling the Tapestry of Gene fusion detection pipelines.

225

Ami Shah

Voice of VOUS - A pilot study on the impact of Variant of Uncertain Significance (VOUS) in pediatric clinical practice at tertiary hospital.

223

Divya Ramani

Genetic underpinning of childhood epilepsy- a single center observational study

217

Sanjana Mehrotra

Prediction of immunogenic peptide ensemble and multi-subunit vaccine for Visceral Leishmaniasis using bioinformatics approaches

215

Bhumika Vaishnav

Copy number variation of SMN gene: Variability from Genotype to Phenotype

214

Smita Kulkarni

Frequency of genetic variants associated with type 2 diabetes mellitus (T2DM) in a pilot study and their correlation with HBA1C levels.

213

Jaydeep Akbari

Microarray and Karyotyping synergistically contributing towards clinical reporting

212

Vijay Kumar

Association of single nucleotide polymorphisms in IL-6 gene with tuberculosis: A case control study from population of Punjab, India.

209

Jinal Parmar

Association of X chromosome variants and Premature ovarian failure

204

Kethora Dirsipam

Association of FOXP3 rs3761548 polymorphism and its reduced expression with Unexplained Recurrent Spontaneous Abortions: A South Indian Study

202

Priyanka Sanghavi

Assessment of cytogenetic findings and risk factors in females with primary amenorrhea.

201

Aishwarya R Nair

In silico analysis of a novel non-synonymous missense mutation in UROS gene associated with hereditary Congenital Erythropoietic Poryphyeria.

200

Angela Devanboo

Biological factors influencing Sex Chromosomal Aneuploidies results on NIPT

198

Anandhi Kalaiyazhagan

Molecular screening of genes associated with differentiated thyroid cancer in the South Indian population: A case control study.

190

Prachi Kukshal

Exploring role of Folate gene polymorphisms in Congenital Heart Disease: A pilot study from north India

187

Lalitha Pavani Chitta

Does protamine serve as a biomarker in male partners for RPL?

184

Urvi Nayee

Yogic amelioration on the shortening of telomere: a review

183

Gayathri snigdha

The implication of ENSA,ABCC8,KCNJ11 gene variations in Type 1 Diabetes expediting to personalized medicine

182

Kiranjeet Kaur Galhna

Association Analysis of Multidrug Resistance Gene ABCB1 in Breast Cancer patients of Punjab.

179

Sanya Gupta

p.R72P and PIN3 Ins 16bp polymorphisms of TP53 in Punjabi Population

178

Dhavalkumar Solanki

Satvik Dietary Phytonutrients as a Potential Modulators of Anti-Citrullinated Protein Antibodies in Rheumatoid Arthritis: A computational technologies

176

Fouzdar Srujana

A Rare Genetic Disorder: Dyggve-Melchior-Clausen Syndrome Unveiled in the Indian population

175

Swathi Gujjula

Novel compound heterozygotes of LAMA2 variants led to demyelination of white matter in Merosin deficient muscular dystrophy (MDC1A)

171

Sheresha Khethavath

Evaluation and establishment of MMP9, TITIN and MYL3 as potential prognostic markers for Duchenne muscular dystrophy

169

Archana V K

Association study on BRCA1(rs80357258 and rs80357093) gene variants with Poly Cystic Ovarian Dysfunction.

165

Shweta Mahalingam

Laboratory experience of fetal RHD typing with NIPT in Indian population

160

Chadalavada Lalitha Devi

Genetic Landscape of ALS: Significance of Advanced Couple Genetic testing

159

Debashruti Das

In-silico approach to characterise the VDR variants and assess their association with tuberculosis susceptibility in global populations.

154

Kamlesh Guleria

Association of VEGF Promoter and HIF1A Exonic Polymorphisms with Infertility Risk in North-West Indians

153

Jyothi Priyanka Ghantasala

Epistatic interaction of metabolic signalling component, akt-1 and mitochondrial morphology regulator, mtp-18 modulate C. elegans healthspan and lifespan.

152

Dhiraj Kajale

Association of Copy Number Variation in Complement Factor H and Complement Factor H-related genes with Chronic Kidney Disease of Unknown Etiology (CKDu).

150

Bipin Kulkarni

Genomic and functional characterization of a rare platelet disorder.

149

Drishti Mahindru

Galectin-3 as an emerging molecule in pathophysiology of chronic obstructive pulmonary disease.

148

Aryan Duggal

DC-SIGN in the pathophysiology of chronic obstructive pulmonary disease.

147

Vanshika Deval

Investigation of VEGFR1-710 C/T promotor Polymorphism in Male Diabetic Retinopathy Patients.

145

Anupam Kaur

Role of FSHR polymorphisms in modulating the risk of Polycystic Ovary Syndrome: A Genetic Study from Northwest India

144

Manmeet Kaur

Screening of VEGFR1-710 C/T Polymorphism in Type 2 Diabetes Male Patients

135

Shikha Tiwari

Single nucleotide polymorphisms in microRNA associated with the risk of oral squamous cell carcinoma in central India population

133

Shyam Kishore

Role of Large Extracellular Vesicles (L-EVs) derived mt-DNA in tumorigenesis of Oral Squamous Cell Carcinoma (OSCC)

132

Zioni Sangeetha

Exploring the additive effect of miRNA polymorphisms and lifestyle factors on common gastrointestinal tract cancer susceptibility.

126

Nandini Dharwal

Unveiling the Breast Cancer Resistance Mechanism: Exploring Biomarkers Associated with CDK4/6 Inhibitor Resistance

125

Shruti Anand

p.V1393M in CACNA1A: A Genetic Link to Epilepsy?

123

Deepanshi Mahajan

Association of VEGFA promoter polymorphisms with Esophageal Squamous Cell Carcinoma risk in North-West Indians: A Case-Control Study.

122

Gayathri Seetharam

A cross sectional study to explore the association of MTHFR gene polymorphisms with the cognitive ability of young adults pursuing a Para medical degree.

119

Sukhpreet Kaur Walia

VEGF and VEGFR2 Polymorphisms and Esophageal Cancer Risk: A Case-Control Study

118

Shera Sahota

TP53 p.R72P polymorphism in infertility.

116

Ipsita Rakshit

Study on novel rare genetic disorders among eastern population of India- A bottom-up approach

115

Shivam Raval

Case report: 17 Alpha Hydroxylase Deficiency - A rare form of Congenital Adrenal Hyperplasia

111

Vasudha Sambyal

Cytogenetic Aberrations In Primary And Secondary Infertile Patients Seeking Assisted Reproductive Technology

102

Preethi Loganathan

Genetic polymorphisms in 9p21.3 associated with Coronary Artery Disease of South Indian population

96

Shreya

Diagnostic yield of exome sequencing in a cohort of 1134 individuals for rare genetic disorders.

95

Vidisha Bhatt

Study of Risk factors for gall bladder cancer in Gujarati population

93

Ron Philip

Factors determining the severity of neurodevelopmental phenotypes in Lowe Syndrome.

92

Anjali Krishna A

Inferring Variants of Uncertain Significance (VUS) in Rare Disease Genetics: An India-centric Study

91

Manjula Gorre

Identification and functional characterization of the ARSA gene mutation spectrum in Metachromatic leukodystrophy patients from India

90

Divya Chandel

Elevated serum LDL levels in response to the genetic variability and its relationship with various risk factors in Acute Coronary Syndrome: A Case-control study

89

Praveen Kumar K.S.

Metabolic insights into glycogen pathway by PBMC viability under glucose-limiting conditions in T2DM patients

85

Siddharth Tripathi

Mucopolysaccharidosis type VII in 2 years male child: A case report.

84

Akansha Anushree

A Case report of neonate with white blood

83

Riddhi Patel

Assessment of graft function of kidney transplant recipients harboring genetic predisposition for Thrombotic Microangiopathy.

81

Rema Devi

Prevalence of chromosomal abnormalities in idiopathic adult epilepsy - A hospital based cross sectional study

80

Sukhjashanpreet Singh

Analyzing the role of LHCGR variants in Polycystic Ovary Syndrome in the female population of Punjab

79

Mandeep Kaur

Clinical significance of FSHR polymorphisms with Polycystic Ovary Syndrome: An association study in the Punjabi Population

75

Suman Pal

Recurrent Pregnancy Loss associated genetic anomalies – case series from eastern India.

74

Amit Singh

Genetic and epigenetic investigations in syndromic short stature patients.

70

Tanuja Bhardwaj

Exploring the Potential Association of THAP9 and THAP9-AS1 in Cockayne Syndrome Type B and Neurodegenerative Diseases

68

Rajeswari Narayanappa

Diagnosis on Formalin fixed paraffin embedded tissue sections- potential valuable resource for medical research

67

Hatem Zayed

Whole-Genome Sequencing of 100 Genomes Identifies a Distinctive Genetic Susceptibility Profile of Qatari Patients with Hypertension

66

Vandana Kamath

When the eye fails to see what the mind knows: Is there a role for further testing in patients with Down phenotype and normal karyotype?

65

Mary Purna Chacko

The varied hues of X:autosomal translocations

64

Anjali Shah

Comprehensive CytoGenomic study of aplastic anemia

63

Arushi Saini

Exploring the clinical and genetic profile of mitochondrial DNA depletion syndrome: A case series

61

Merin George

Genetics and Epigenetics study of Fanconi Anemia phenotype and cancer predisposition

60

Kratika Verma

Predicting the role of intermittent fasting in altering the sulfur energetics in cancer cells.

59

Jiju James

The importance of conventional cytogenetics in baseline testing- a case study of complex chromosomal rearrangement

58

Vibhu Joshi

Single Nucleotide Polymorphisms (SNPs) and Copy Number Variations (CNVs) associated with Fc Gamma Receptors (FcγRs) in patients with Kawasaki Disease

57

Rachna Agarwal

Association of ApoE polymorphism with various Neurological Diseases in North Indian Population

56

Pallavi Thakur

Altered cellular energetics in copper toxicity – A pathway towards cancer

55

Abhishek Sehrawat

Differentially expressed miRNAs in Diabetic Nephropathy target oxidative stress and mitochondrial dysfunction pathways

53

Shiffali Khurana

Clinical and genetic determinants of Amyotrophic lateral sclerosis

52

Aarthi Manoharan

Identification of deleterious mutations in genes associated with cardiomyopathy in the pathogenesis of atrial fibrillation

50

Trupti Patel

Mutational profiling of the genes involved in cadmium toxicity - An in-silico study.

48

Goldi Namdev

Influence of Apolipoprotein E polymorphism and its expression on PI-treated HIV patients with dyslipidemia

46

Tavisha Dama

KMT2D Gene Mutation Unveils Kabuki Syndrome: A Genotype-Driven Discovery

44

Manroop SIngh Buttar

Analysis of MDM2, VEGFA and MCP-1 variants towards susceptibility of Diabetic Retinopathy in North West Indian population.

43

Priyanka Tiwari

Exploring the association among celiac disease, rheumatoid arthritis and ulcerative colitis through transcriptome analysis

41

Padmavathi Gopinath

Novel homozygous non-synonymous mutations in NEB and a hemizygous mutation in OFD1 identified in an aborted fetus from a family with a history of miscarriages

40

Sundaram Reddy Chakkarappan

Super enhancer loci of EGFR regulate EGFR variant 8 through enhancer RNA and strongly associate with survival in HNSCCs

38

Ashish Fauzdar

High Prevalence of Acro ps+/- of D/G group of chromosomes 13ps+/-, 14ps+/-, 15ps+/-, 21ps+/-, 22ps+/- Chromosome Polymorphisms (CPM), An Evaluation of Genetic Factor in 1400 Recurrent Pregnancy Losses (RPL) patients and reassessing CPM in 21st Century as

37

Pranati Sar

Association of HLA DR/DQ Haplotypes with Malaria Infection: A Pilot Study

36

Yashu Sharma

Clinical, radiological, and genetic characterization of childhood-onset Leukodystrophies using targeted next-generation sequencing: A cost-efficient approach in resource-poor settings

35

Zia Chaudhuri

Rare variants and oligogenic contribution in primary concomitant strabismus

34

Rhuthuparna M

Exploring contribution of genetic polymorphism in metabolic reprogramming in breast cancer.

33

Mangesh Rajguru

Vertebrate α1-proteinase inhibitors - Origin, Evolution, and Pathophysiological Diversifications

31

Sangeetha Priya Shanmugam

Association of CTLA4 Single nucleotide polymorphism with vasculitis

28

Pooja Umesh Shenoy

YenCOVID Project Phase I reveals the likely association of genetic variants

26

Preeti Khetarpal

Genome-wide DNA methylation analysis in blood identifies differentially methylated regions related to polycystic ovary syndrome- a pilot study

25

Shristi Biswas

Candidate germline alterations in familial cancer: Our case reports.

24

Naresh Tayade

Cystic Fibrosis in Infants: Missing the Boat?

22

Gowrang KM

Data Exploration Analysis of Breast Oncogenomes

20

Pratibha Banerjee

Transcriptomic study of duodenal tissue identified downregulation of a novel gene CDH18 in celiac disease

19

Nehakumari Maurya

CytoGenomic approach to identify genomic changes and their association with overall survival in Myelodysplastic syndromes

18

Shrikirti Anand

Role of EGR1 in diabetes, obesity and cancer – An in-silico perspective

17

Apurwa Mishra

Altered dynamics of STN1 and Repair proteins: An in-silico study to uncover its role in telomeric instability

13

Trupti Patel

Mutational profiling of the genes involved in cadmium toxicity - An in silico study

12

Manoj A

DNA damage in Perinatal Asphyxia using Micronucleus Assay

11

Manikantan P

Chromosome Aberrations In Patients With Hydronephrosis

4

Vishal Nanavaty

Chromosome dynamics orchestrates transcription termination via epigenetic alterations.