Miriam S. Reuter

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 63 publications

Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.

Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.

Journal: ESMO open

Published: July 22, 2025

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

Journal: NPJ genomic medicine

Published: March 05, 2025

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 19, 2025

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.

Journal: Autism research : official journal of the International Society for Autism Research

Published: December 16, 2024

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Journal: Nature

Published: December 10, 2024

Mitotane treatment of adrenocortical carcinoma induces tumoural secretion of GDF-15: impact on poor prognosis and impaired responsiveness to immunotherapy.

Mitotane treatment of adrenocortical carcinoma induces tumoural secretion of GDF-15: impact on poor prognosis and impaired responsiveness to immunotherapy.

Journal: European journal of endocrinology

Published: November 25, 2024

Combined [18F]Fluorodeoxyglucose PET and [123I]Iodometomidate-SPECT for diagnostic evaluation of indeterminate adrenal neoplasias-the cross-sectional diagnostic test accuracy study FAMIAN.

Combined [18F]Fluorodeoxyglucose PET and [123I]Iodometomidate-SPECT for diagnostic evaluation of indeterminate adrenal neoplasias-the cross-sectional diagnostic test accuracy study FAMIAN.

Journal: EBioMedicine

Published: October 07, 2024

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Journal: Scientific reports

Published: August 12, 2024

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: July 24, 2024

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Journal: medRxiv : the preprint server for health sciences

Published: January 18, 2024

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Journal: European journal of human genetics : EJHG

Published: January 06, 2024

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Journal: American journal of human genetics

Published: December 07, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026