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POSEY, JENNIFER

One or more keywords matched the following items that are connected to POSEY, JENNIFER

Item Type	Name
Academic Article	Adult presentation of X-linked Conradi-H?nermann-Happle syndrome.
Academic Article	Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
Academic Article	POGZ truncating alleles cause syndromic intellectual disability.
Academic Article	Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article	Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article	Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Academic Article	Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Academic Article	Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Academic Article	Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article	A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Academic Article	Insights into genetics, human biology and disease gleaned from family based genomic studies.
Grant	Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease
Academic Article	Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Concept	Exome
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article	Genome sequencing and implications for rare disorders.
Academic Article	Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Academic Article	Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.
Academic Article	TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Academic Article	Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article	Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Academic Article	A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article	Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Academic Article	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Academic Article	Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Academic Article	Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Academic Article	Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Academic Article	Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Academic Article	Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Academic Article	Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Academic Article	MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Academic Article	Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Academic Article	A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Academic Article	Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Academic Article	Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Academic Article	Exome variant discrepancies due to reference-genome differences.
Academic Article	Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Academic Article	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Academic Article	High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Academic Article	Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Academic Article	Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article	Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Academic Article	Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Academic Article	HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

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