Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...

Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy #RareDisease #Genetics www.nature.com/articles/s41...

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia #RareDisease #Genetics www.cell.com/ajhg/fulltex...

MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics #RareDisease #Genetics link.springer.com/article/10.1...

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...

Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice #RareDisease #Genetics www.sciencedirect.com:5037/science/arti...

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene www.researchsquare.com/article/rs-8...

Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study #RareDisease #Genetics www.nature.com/articles/s41...

C-terminal extension of HSPB6 in a family with myopathy and cataract Abstract. The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its par

C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-...

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis Craniosynostosis is characterized by premature fusion of cranial sutures, often with a complex genetic basis. While multiple genes have been implicated, the role of TGFBR3 mutations remains largely u....

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

Proteome-wide model for human disease genetics #RareDisease #Genetics www.nature.com/articles/s41...

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...

Identification of an episignature for the MEF2C-associated syndrome - European Journal of Human Genetics European Journal of Human Genetics - Identification of an episignature for the MEF2C-associated syndrome

Identification of an episignature for the MEF2C-associated syndrome #RareDisease #Genetics www.nature.com/articles/s41...

Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport - Journal of Human Genetics Journal of Human Genetics - Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport

Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive #RareDisease #Genetics www.jci.org/articles/vie...

Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships #RareDisease #Genetics www.jci.org/articles/vie...

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelo....

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...

MaveMD: A functional data resource for genomic medicine #RareDisease #Genetics www.medrxiv.org/content/10.1...

Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort Phenotype-based ascertainment of probands in studies of Mendelian disorders may exclude individuals with mild phenotypes or that lack health care acce…

Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort #RareDisease #Genetics www.sciencedirect.com/science/arti...

Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis This study evaluates the clinical significance of ROH detection in prenatal settings. Our results and findings from the other five large prenatal case series from literature indicated that the use of ...

Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.
#RareDisease #Genetics www.cell.com/hgg-advances...

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia Heterozygous variants in ESRRG are associated with an autosomal-dominant, non-progressive congenital movement disorder. Clinical characterization of eight individuals, supported by in silico modeling ...

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes - Genome Medicine Background Imprinted genes are expressed in a parental-origin–specific manner. The imprinted regions including imprinted genes have differentially methylated regions (DMRs) with different 5-methylcyto...

A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications - Genome Medicine Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and requires a technology...

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...

A functional assay to classify RB1 variants of uncertain significance The RB1 gene encodes the retinoblastoma protein (pRB) playing a major role in cell cycle control, particularly by its interaction with E2F transcripti…

A functional assay to classify RB1 variants of uncertain significance #RareDisease #Genetics www.sciencedirect.com/science/arti...

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? #RareDisease #Genetics www.nature.com/articles/s10...