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Rachel Rabin

12PUBLICATIONS

152CO-AUTHORS

NeurogeneticsAnthropological geneticsEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Neurology and neuromuscular diseases

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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 <i>KDM2A</i> 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 <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Jun 28, 2023

Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> 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

Frequent Collaborators

7 joint publications

John Pappas

3 joint publications

Kevin T Booth

2 joint publications

Rami Abou Jamra

2 joint publications

Anita Rauch

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