Laura Cross
A5050830220- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- RNA modifications and cancer
- Medical Education and Admissions
- BRCA gene mutations in cancer
- Congenital Heart Disease Studies
- Connective tissue disorders research
- Immunodeficiency and Autoimmune Disorders
- Pregnancy-related medical research
- Chromosomal and Genetic Variations
- Craniofacial Disorders and Treatments
- Radiology practices and education
- Neuroscience and Neuropharmacology Research
- Wnt/β-catenin signaling in development and cancer
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Stress Responses and Cortisol
- Cleft Lip and Palate Research
- Cystic Fibrosis Research Advances
- Cancer Genomics and Diagnostics
- Memory and Neural Mechanisms
- RNA Research and Splicing
- Coronary Artery Anomalies
Children's Mercy Hospital
2019-2023
University of Missouri–Kansas City
2019-2021
Pediatrics and Genetics
2021
Pacific Biosciences (United States)
2021
GTx (United States)
2020
Two lysine acyltransferases govern histone H3 propionylation at 23 in normal and pathological conditions.
PurposeThis study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.MethodsExtensive of 960 families with suspected genetic disorders included short-read exome sequencing genome (srGS); PacBio HiFi long-read (HiFi-GS); variant calling single nucleotide variants (SNV), structural (SV), repeat variants; machine-learning prioritization. Structured phenotypes, prioritized variants, pedigrees were...
In humans recognition memory deficits, a typical feature of diencephalic amnesia, have been tentatively linked to mediodorsal thalamic nucleus (MD) damage. Animal studies occasionally investigated the role MD in single-item recognition, but not systematically analyzed its involvement other processes. Experiment 1 rats with bilateral excitotoxic lesions or medial prefrontal cortex (mPFC) were tested tasks that assessed (novel object preference), associative (object-in-place), and recency...
The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only to contain amino acid hypusine. We show that de novo heterozygous EIF5A variants cause a disorder characterized variable combinations developmental delay, microcephaly, micrognathia and dysmorphism. Yeast growth assays, polysome profiling, total/hypusinated eIF5A levels PPT-reporters studies...
Abstract Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D . As the full phenotypic spectrum natural history remain be defined, we describe large cohort children adults with JdVS. This retrospective study 37 individuals from 34 families disease‐causing leading Clinical data were provided by treating physicians and/or families. Of individuals, 27 male 10 female, median age 8.75 years (range 8 months 62 years). Four...
Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M. Author Information
Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported patients with tetralogy of Fallot (TOF). However, their role disease causality and pathogenesis remains unclear.
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide. Despite absence of an independent assay for function corroborate potential functional consequences rare variant genetic findings, there also reports XGS-like trait...
Abstract Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine that regulates numerous biological processes. PPP2R1A encodes the scaffolding “Aα” subunit of PP2A. To date, nearly 40 patients have been previously reported with 19 different pathogenic variants, phenotypes including intellectual disability, developmental delay, epilepsy, infant agenesis/dysgenesis corpus callosum, and dysmorphic features. Apart from single case, severe congenital heart defects (CHD) not described....
Abstract De novo variants in FOXP4 were recently associated with a neurodevelopmental disorder characterized by speech and language delay, growth abnormalities, hypotonia, variable congenital including diaphragmatic hernia, cervical spine strabismus, cryptorchidism, ptosis. The variant spectrum this small cohort was limited to de missense except for one frameshift, the inheritance of which unknown. Variants tested vitro exhibited reduced repressor transcriptional activity, indicating loss...
The following paper is focused on neurodiversity and disability in assessment, an area we believe needs significantly greater attention by researchers, organisations practitioners. Currently there very limited research this topic and, as a result, guidance around recruitment generally unclear. aim of to provide some insights into the share results evaluation 452,933 candidates who completed Situational Judgement Test (SJT) context. We hope that evidence from study will help increase our...
ABSTRACT PURPOSE To provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program. METHODS Extensive of 960 families with suspected genetic disorders including short-read exome (ES) genome sequencing (srGS); PacBio HiFi long-read GS (HiFi-GS); variant calling small-nucleotide (SNV), structural (SV) repeat variants; machine-learning prioritization. Structured phenotypes, prioritized variants pedigrees are stored...