Alba Sanchis‐Juan

This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

This study identifies novel genetic drivers of orofacial clefts by analyzing de novo variants in 2,497 trios and integrating findings across subtypes and syndromic status.

The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

The paper maps constrained coding regions in the human genome to their corresponding proteins and identifies protein features associated with high constraint for variation.

GATK-gCNV detects rare copy number variants from exome sequencing data, achieving high recall in benchmarking and generating a reference catalog of rare coding CNVs in the UK Biobank.

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.