Gholson J. Lyon

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes

This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.

A repository of Ogden syndrome (NAA10) and NAA15 patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.

The paper describes the generation and characterization of patient-derived iPSC lines and isogenic pairs for Ogden syndrome, including CRISPR corrections and X-chromosome screening.

Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention

This study reports longitudinal cognitive decline in Ogden syndrome, shows no difference in adaptive behavior by seizure status, and highlights speech therapy's limited effectiveness in early intervention.

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice

The paper evaluates maternal effect lethality and genetic background effects in Naa10 knockout mice, finding no replication of maternal effect lethality but some embryonic lethality in specific genetic backgrounds.

A Natural History of NAA15-related Neurodevelopmental Disorder Through Adolescence

The paper tracks adaptive functioning in individuals with NAA15-related neurodevelopmental disorder over time, finding sex differences in performance and decline.

Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome

This study assesses the impact of seizures on cognitive outcomes in individuals with KBG syndrome using Vineland-3 assessments and medical records.

Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome

This study reports the prevalence of ophthalmological conditions in 43 KBG syndrome patients, finding higher rates of strabismus and refractive errors compared to literature.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.

Expanding the Phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.

Phenotypic variability and Gastrointestinal Manifestations/Interventions for growth in Ogden syndrome (also known as NAA10-related Syndrome)

This study examines growth failure and gastrointestinal symptoms in children with Ogden Syndrome, finding that G-tubes/GJ-tubes improve weight gain but require careful management.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

This study reports on 25 new KBG syndrome patients, identifies common clinical features, and provides recommendations for diagnosis and treatment.

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

This paper reports a non-consanguineous family with autosomal recessive SLC30A9 mutations associated with a cerebro-renal syndrome and conducts a limited population allele frequency analysis.

Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway

The paper identifies Naa12 as a compensatory N-terminal acetyltransferase that rescues Naa10 deficiency in mice, revealing its role in amino-terminal acetylation.

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

SvAnna predicts pathogenicity of structural variants in long-read sequencing data by integrating transcript and regulatory annotations with clinical phenotype data, achieving high accuracy in prioritizing pathogenic variants.

Synaptic processes and immune-related pathways implicated in Tourette Syndrome

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases

Phen2Gene prioritizes genes based on HPO terms for rare diseases, outperforming existing tools in speed and accuracy for clinical diagnosis.

PEDIA: Prioritization of Exome Data by Image Analysis

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Not by systems alone: replicability assessment of disease expression signals

The paper assesses the replicability of disease expression signals across pedigrees and identifies genes missed by systems methods.

Scikit-ribo: Accurate estimation and robust modeling of translation dynamics at codon resolution

Scikit-ribo provides accurate A-site prediction and translation efficiency estimation from Riboseq and RNAseq data, correcting biases and improving TE estimation for over 2000 genes in S. cerevisiae.

HadoopCNV: A Dynamic Programming Imputation Algorithm To Detect Copy Number Variants From Sequencing Data

HadoopCNV detects copy number variants from WGS data using dynamic programming and allelic depth, outperforming existing tools in accuracy and scalability.

Indel variant analysis of short-read sequencing data with Scalpel

This paper introduces Scalpel, an open-source tool for accurate indel detection from short-read sequencing data, and demonstrates its application in various analysis modes.

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

This paper reports whole genome sequencing of a family with PWS, HH, and dysautonomia-like symptoms, identifying genetic variants and highlighting the importance of standardized phenotypic and genomic data.

Reducing INDEL calling errors in whole-genome and exome sequencing data

This study identifies sources of INDEL calling errors in sequencing data and shows that whole-genome sequencing (WGS) outperforms whole-exome sequencing (WES) in accuracy and sensitivity for detecting INDELs.