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franmartinezgr.bsky.social @franmartinezgr.bsky.social · 12h

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements

We report RBM15 as a potential novel gene associated with congenital mirror movements (CMM), characterized by involuntary movements on one side of the body that mirror intentional movements on the opp...

www.cell.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 1d

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene

Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, and epiphyseal dysplasia. Only four ARSS cases due to pathogenic variants in...

onlinelibrary.wiley.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 2d

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 3d

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders #RareDisease #Genetics www.nature.com/articles/s41...

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders - European Journal of Human Genetics

European Journal of Human Genetics - Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders

www.nature.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 5d

A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 6d

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 7d

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 8d

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 8d

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

Despite significant knowledge advances in recent decades, the role of most protein-coding genes in human disease remains incompletely understood. Exome sequencing continues to improve our understandi....

onlinelibrary.wiley.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 9d

Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 11d

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder - Journal of Human Genetics

Journal of Human Genetics - LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder

www.nature.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 12d

HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline #RareDisease #Genetics www.sciencedirect.com/science/arti...

HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline

The PM1 criterion, which states that a variant is located in a mutational hot spot and/or critical and well-established functional domain without beni…

www.sciencedirect.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 13d

A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

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franmartinezgr.bsky.social @franmartinezgr.bsky.social · 14d

Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 15d

Heterozygous pathogenic variants in the splicing factor SF1lead to a large spectrum of neurodevelopmental disorders #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene exp...

www.cell.com

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franmartinezgr.bsky.social @franmartinezgr.bsky.social · 16d

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature

We report the third known case of a homozygous PDIA6 mutation presenting with congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and skeletal dysplasia in a Syrian infant. Th...

onlinelibrary.wiley.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 17d

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome - Journal of Human Genetics

Journal of Human Genetics - Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome

www.nature.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 18d

Disrupting Integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 19d

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder

Purpose Williams-Beuren syndrome (WBS) is a well-known neurodevelopmental disorder caused by a copy-number loss at the 7q11.23 locus. Although the 1.5–1.8 Mb recurrent deletion carries several genes o...

jmg.bmj.com

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 20d

PIGC-related encephalopathy: Lessons learned from 18 new probands #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

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franmartinezgr.bsky.social @franmartinezgr.bsky.social · 20d

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants #RareDisease #Genetics #ACMG #ClinGen www.cell.com/ajhg/fulltex...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 22d

RetiGene, a comprehensive gene atlas for inherited retinal diseases #RareDisease #Genetics www.cell.com/ajhg/fulltex...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 23d

Landscapes of missense variant impact for human superoxide dismutase 1 #RareDisease #Genetics www.cell.com/ajhg/fulltex...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 25d

LONP1 Variants Are Associated With Clinically Diverse Phenotypes #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...

franmartinezgr.bsky.social @franmartinezgr.bsky.social · 27d

PATJ deficiency leads to cystic kidney disease and related ciliopathies #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...