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Open access

Research article

First published 2022

Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years?

Luiza Amara Maciel Braga, Carlos Gilbert Conte Filho, Fabio Batista Mota

Therapeutic Advances in Rare Disease

Open access

Research article

First published 2017-5-25

Marking 15 years of the Genetic and Rare Diseases Information Center

Janine Lewis, Michelle Snyder, Henrietta Hyatt-Knorr

Translational Science of Rare Diseases

Retricted access

Research article

First published 2021

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases

Haseeb Nisar, Bilal Wajid, Samiah Shahid [...]

Experimental Biology and Medicine

Retricted access

Article commentary

First published 2025-10

Revisiting APOE : Insights from rare variants and the expanding landscape of Alzheimer's disease genetics

Jungsoo Gim

Journal of Alzheimer’s Disease

Free access

Case report

First published 2024-3

Juvenile Alexander Disease and Cleidocranial Dysplasia: A Rare Combination of Genetic Abnormalities in a Pediatric Patient

P. Annie Chen-Carrington, Christopher Henry, Adam Goodreau [...]

FACE

Retricted access

Research article

First published 2012-12

Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders

Partha S. Ghosh, Neil R. Friedman, Debabrata Ghosh

Journal of Child Neurology

Open access

Research article

First published 2022-04

Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic,Regulatory,and Ethical Perspectives

Matthis Synofzik, Willeke M.C van Roon-Mom, Georg Marckmann [...]

Nucleic Acid Therapeutics

Retricted access

Case report

First published 2026

A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings

Ozlem Sumer Cosar, Gulsum Kayhan, Gulen Akyol [...]

Pediatric and Developmental Pathology

Retricted access

Research article

First published 2006-05

Genetic and Rare Diseases Information Center (CARD)

NASN School Nurse

Retricted access

Case report

First published 2025-11-1

Varying clinical phenotypes of Danon disease within a large family unit: A case series

Humaira Nuraqilah Mohd Yusof, Huzairi Sani, Raja Ezman Raja Shariff

Translational Science of Rare Diseases

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