Dr. Samantha Schilit

Experiences With Detection of Higher‐Copy Sex Chromosome Aneuploidy by cfDNA Screening: The Critical Role of Diagnostic Testing - Choate - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/full/10.10…

Addressing Patient–Provider Communication Gaps in Vanishing Twin Syndrome: Implications for Patient Care and Clinical Guidelines mdpi.com/2227-9032/13/1…

Variation in sex and gender is natural and beautiful! worldwildlife.org/stories/are-th…

Oh how I’ve missed you, #PubMed. Please don’t leave me again!

An UPDATED protocol with a WEBSITE-based calculator is now available!!! x.com/samschilit/sta… #GeneChat

In addition to the previously offered custom Java program, a web-based calculator that also calculates age-adjusted miscarriage risks is now available! Author shareable link: onlinelibrary.wiley.com/share/author/V… Calculator: translocationriskscalculator.info

This new version of the protocol has been updated from the initial publication (Trunca, Mendell, & Schilit, 2022) in order to introduce an additional resource to the community that is intended to improve accessibility and reduce error in calculating risks.

Two years ago, we introduced the medical genetics community to a resource that obtains reproductive risk estimates for balanced translocation carriers. We have now published an UPDATED protocol, including a WEB-based version of the calculator! …rentprotocols.onlinelibrary.wiley.com/doi/10.1002/cp…🧵 #genechat

For over 30 years at a volume of ~600 inquiries per year, reproductive risk estimates for these individuals have been offered as a clinical service through The Genetics Center.

Understanding reproductive risks is critical for balanced translocation carriers to make informed reproductive decisions.

VOTE like your life depends on it, as it certainly did for my dear friend Avery. Thank you for your vulnerability and sacrifice of privacy to share your story in time for it to potentially improve healthcare for other pregnant individuals. usatoday.com/story/news/hea…

Despite the strong gene-disease association, there’s more to learn about the penetrance of SYCP2-mediated male infertility and other possible mechanisms of pathogenicity. I strongly encourage other publications of additional cases so we can further characterize this association!

The reclassification improves SYCP2 variant interpretation and qualifies it for inclusion on diagnostic male infertility gene panels and prioritization in whole exome or genome studies for related phenotypes.

‼️ Pub alert ‼️ Since reporting the first cases of SYCP2-mediated male infertility in humans five years ago (PMID: 31866047), we have now identified additional cases of SYCP2 deleterious variants in men with infertility. mdpi.com/2073-4425/15/8…

New pub alert ‼️ The largest published cohort to date of individuals with 47,XXY/46,XX, which serves as a resource to those found to have this karyotype: A multi-center analysis of individuals with a 47,XXY/46,XX karyotype - Genetics in Medicine gimjournal.org/article/S1098-…

In awe of my twin Arielle Nitenson and friend Angie Norwich, inventors of this patent pending technology! youtube.com/watch?v=AW8fV9… youtu.be/AW8fV9V_EuY?si…