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Last Updated: 10/31/2025

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Found 126 publications

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.

Journal: American journal of human genetics
Published: October 08, 2024

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Journal: Journal of medical genetics
Published: October 03, 2024

Genomics of rare diseases in the Greater Middle East.

Genomics of rare diseases in the Greater Middle East.

Journal: Nature genetics
Published: September 23, 2024

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.

Journal: Respirology case reports
Published: August 13, 2024

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Journal: Journal of human genetics
Published: March 05, 2024

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics
Published: July 27, 2023

Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus.

Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus.

Journal: BMC biology
Published: July 25, 2023

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Journal: Nature genetics
Published: July 24, 2023

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics
Published: April 20, 2023

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.

Journal: Nucleic acids research
Published: March 24, 2023

The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death.

The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death.

Journal: eLife
Published: January 29, 2023
Showing 1-12 of 126

Last Updated: 10/31/2025