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Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment

13 citations , October 2024 in “Scientific Reports”

Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.

research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

June 2024 in “Research Square (Research Square)”

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

December 2022 in “American journal of medical genetics. Part A”

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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