Zeynep Erdogan-Yildirim
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View article: Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk
Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk Open
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic det…
View article: Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos
Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos Open
Background/Objectives: Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P)—a common and highly heritable birth defect with a multifactorial etiology. Methods: To identify new risk lo…
View article: A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women
A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women Open
Background/Objectives:The anti-Müllerian hormone (AMH) is a key biomarker of the ovarian reserve, correlating with ovarian follicle count, fertility outcomes, and menopause timing. Understanding its genetic determinants has broad implicati…
View article: A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women
A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women Open
Background/Objectives: The anti-Müllerian hormone (AMH) is a key biomarker of the ovarian reserve, correlating with ovarian follicle count, fertility outcomes, and menopause timing. Understanding its genetic determinants has broad implicat…
View article: Variants in<i>CALD1</i>,<i>ESRP1</i>, and<i>RBFOX1</i>are associated with orofacial cleft risk
Variants in<i>CALD1</i>,<i>ESRP1</i>, and<i>RBFOX1</i>are associated with orofacial cleft risk Open
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic det…
View article: Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos
Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos Open
Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P) – a common and highly heritable birth defect with a multifactorial etiology. To identify new CL/P risk loci, we conducted a genome…
View article: A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women
A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women Open
Study question Can a genome-wide association study (GWAS) and transcriptome-wide association study (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women? Summary ans…
View article: Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428 Open
View article: Functional investigation of ESR1 fusions identified in endocrine therapy refractory estrogen receptor positive breast cancer
Functional investigation of ESR1 fusions identified in endocrine therapy refractory estrogen receptor positive breast cancer Open
Metastatic estrogen receptor (ER)-positive breast cancer is an incurable disease that remains a clinical challenge and a public health burden. Over 40,000 women die each year from breast cancer and over 90% of these are due to metastatic d…
View article: Recurrent hyperactive ESR1 fusion proteins in endocrine therapy-resistant breast cancer
Recurrent hyperactive ESR1 fusion proteins in endocrine therapy-resistant breast cancer Open