Samantha L.P. Schilit
Myriad (Germany)(DE)Myriad Genetics(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genomics and Chromatin Dynamics, Chromosomal and Genetic Variations
Most-Cited Works
- → SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility(2019)97 cited
- → Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group(2023)60 cited
- → CRISPR: a versatile tool for both forward and reverse genetics research(2016)50 cited
- → Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity(2023)25 cited
- → Recent Advances and Future Opportunities to Diagnose Male Infertility(2019)16 cited
- → Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay(2016)15 cited
- → Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?(2022)12 cited
- → Pronuclear Injection‐Based Targeted Transgenesis(2016)12 cited
- → BNC1 Promotes Spermatogenesis by Regulating Transcription of Ybx2 and Papolb via Direct Binding to Their Promotor Elements(2020)9 cited
- → Reproductive Risk Estimation Calculator for Balanced Translocation Carriers(2022)7 cited