Daryl A. Scott

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

<i>BAZ2B</i> haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Schaaf‐Yang syndrome overview: Report of 78 individuals

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants

Use of Exome Sequencing for Infants in Intensive Care Units

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

1p36 deletion syndrome: an update