Sanaa Choufani

686 Bay Street
Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 68 publications

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics
Published: April 30, 2026

Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

Journal: European journal of human genetics : EJHG
Published: February 10, 2026

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Journal: American journal of human genetics
Published: January 07, 2026

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Journal: American journal of human genetics
Published: December 11, 2025

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Journal: Clinical genetics
Published: October 20, 2025

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics
Published: August 08, 2025

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.

Journal: Clinical genetics
Published: March 04, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine
Published: October 08, 2024

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Journal: Journal of medical genetics
Published: July 19, 2024

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Journal: Journal of medical genetics
Published: May 13, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics
Published: March 18, 2024
Showing 1-12 of 68

Last Updated: 09/26/2026