Rachel Rabin
12PUBLICATIONS
152CO-AUTHORS
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Publications (12)
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|Apr 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.Mindy H Li, Deziree L Coleman, Kelsey Hogan
|Jan 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.Rachel Rabin, Kevin T A Booth, Shawn E Cowper
|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.Eric N Anderson, Stephan Drukewitz, Sukhleen Kour
|Oct 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.Rachel Rabin, Yoel Hirsch, Kevin T A Booth
|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske van Woerden
|Jun 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Alejandro Parra, Rachel Rabin, John Pappas
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Frequent Collaborators
7 joint publications
John Pappas
3 joint publications
Kevin T Booth
2 joint publications
Rami Abou Jamra
2 joint publications
Anita Rauch
2 joint publications
Renske Oegema
1 joint publications
William B Dobyns
1 joint publications
Leah Dowsett
1 joint publications
Schaida Schirwani
1 joint publications
Natalie Hauser
1 joint publications
Arjan Bouman
