Elaine Zackai
15PUBLICATIONS
161CO-AUTHORS
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Publications (15)
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|Mar 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.Jhih-Rong Lin, Daniella Miller, Dana Luong
|Jan 28, 2026
22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously.Jennifer Borowka, Terrence Blaine Crowley, Ashika Mani
|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer
|Dec 08, 2025
Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.Benjamin Jung, J Eric Schmitt, Jakob Seidlitz
|Jun 09, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.Dong Li, Leticia S Matsuoka, Sarah Donoghue
|Feb 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of <i>ANKRD11</i> Cause KBG Syndrome.Aiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene
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Frequent Collaborators
8 joint publications
Donna McDonald-McGinn
5 joint publications
Terrence Blaine Crowley
5 joint publications
Dong Li
4 joint publications
Bernice Morrow
3 joint publications
Carrie E Bearden
3 joint publications
Beverly S Emanuel
2 joint publications
Ian A Glass
2 joint publications
Benjamin Cogné
2 joint publications
Beata Nowakowska
2 joint publications
Sarah E Sheppard
