Publications by authors named "Zoe Frazier"

Claim this Profile
N
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Zoë J Frazier, Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn

Clin Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.
Kristen L Connors, Nikkola E Carmichael, Terry Jo Bichell, Kira A Dies, Zoë J Frazier

Sage Open Pediatr· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: EZH2 has a non-catalytic and PRC2-independent role in stabilizing DDB2 to promote nucleotide excision repair.
Allyson E Koyen, Matthew Z Madden, Dongkyoo Park, Elizabeth V Minten, Priya Kapoor-Vazirani, Zoë Frazier

Oncogene· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet, Zoe Frazier

Genet Med· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci, Zoë Frazier

Brain· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier

Am J Med Genet A· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Zoe Frazier

Am J Hum Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Zoe Frazier

Am J Hum Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Lottie D Morison, Milou G P Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Zoe Frazier

J Med Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa, Dustin L Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan

Ann Clin Transl Neurol· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Zoë Frazier

Eur J Hum Genet· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Toward representative genomic research: the children's rare disease cohorts experience.
Zoë J Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang

Ther Adv Rare Dis· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of a Synthetic Lethal Relationship between Nucleotide Excision Repair Deficiency and Irofulven Sensitivity in Urothelial Cancer.
Judit Börcsök, Zsofia Sztupinszki, Raie Bekele, Sizhi P Gao, Miklos Diossy, Zoë J Frazier

Clin Cancer Res· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
EZH2 has a non-catalytic and PRC2-independent role in stabilizing DDB2 to promote nucleotide excision repair.
Allyson E Koyen, Matthew Z Madden, Dongkyoo Park, Elizabeth V Minten, Priya Kapoor-Vazirani, Zoë Frazier

Oncogene· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional profiling of nucleotide Excision repair in breast cancer.
Anne S Rajkumar-Calkins, Raphael Szalat, Matija Dreze, Iman Khan, Zoë Frazier

DNA Repair (Amst)· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer.
Qiang Li, Alexis W Damish, Zoë Frazier, David Liu, Elizaveta Reznichenko

Clin Cancer Res· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis