@SamSchilit

Board-certified medical geneticist by way of ABMGG LGG fellowship @harvardmed, PhD @BBS_Harvard, and Masters @wesleyan_u. Opinions are plentiful and are my own.

Joined November 2016
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69Media
Science connects us when… 
“We drop our egos”
“We leave titles & positions behind”
“We feel intellectually, physically & emotionally safe” Science is notoriously hierarchical. We need a culture where respect, safety & accountability transcend rank. #ashg2026 #GCchat
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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/…
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Addressing Patient–Provider Communication Gaps in Vanishing Twin Syndrome: Implications for Patient Care and Clinical Guidelines mdpi.com/2227-9032/13/16/204…

Addressing Patient–Provider Communication Gaps in Vanishing Twin Syndrome: Implications for Patient...

Background: Vanishing twin syndrome (VTS) represents a complex and under-recognized phenomenon in multifetal pregnancies, associated with both clinical uncertainty and significant psychosocial...

mdpi.com
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Variation in sex and gender is natural and beautiful! worldwildlife.org/stories/ar…

Queer nature is all around us

From penguins to bonobos, queer behaviors in wildlife are natural and diverse. Learn how animals challenge human taboos and inspire inclusion.

worldwildlife.org
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Oh how I’ve missed you, #PubMed. Please don’t leave me again!
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An UPDATED protocol with a WEBSITE-based calculator is now available!!! xitter.cf/samschilit/status/1883… #GeneChat
Dr. Samantha Schilit@SamSchilit26 Dec 2022
I’m thrilled to announce that an important resource for the medical genetics community has just been published! onlinelibrary.wiley.com/shar… 🧵
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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! currentprotocols.onlinelibra…🧵 #genechat

Reproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web‐based...

Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding...

currentprotocols.onlinelibrary.wiley.com
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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.
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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/shar… Calculator: translocationriskscalculator…
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Understanding reproductive risks is critical for balanced translocation carriers to make informed reproductive decisions.
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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.
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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/heal…
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‼️ 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/2073-4425/15/8/1092

Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene–Disease Clinical Validity...

Male infertility affects approximately 7% of the male population, and about 15% of these cases are predicted to have a genetic etiology. One gene implicated in autosomal dominant male infertility,...

mdpi.com
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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.
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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!
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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…
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