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Articles by Hane Lee
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder
Abstract Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 unrelated families.
Reconsidering the Necessity of Partisanship in Mass Polarization
Submitted: 09 September 2026 Posted: 14 September 2026 You are already at the latest version Mass polarization is often considered a partisan phenomenon, but is partisanship a necessary condition for mass polarization? To answer this question, we examine whether policy disagreement, specifically opinion divergence, can contribute to affective polarization independently of partisanship. We test three theoretical and empirical premises of partisan-centric accounts relating to opinion divergence.
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
1 Introduction Leber congenital amaurosis (LCA) is the earliest onset and most severe form of inherited retinal dystrophies (IRD) (den Hollander et al. 2008). It is characterized by severe vision loss from birth, nystagmus, sluggish pupillary responses, and an extinguished electroretinogram (den Hollander et al. 2008). The prevalence of LCA is estimated from 1.20 to 2.37 per 100,000 (Han et al. 2023).
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy - Nature Communications
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Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome.
By Emily Banks, Sheng-Jia Lin, Vladimir S. Fonov, Maxime Lévesque, Armin Bayati, Fowzan S. Alkuraya, Melanie Bahlo, Eileen S. Barr, Dominique Braun, Rebecca Buchert, Stephanie Efthymiou, Tawfiq Froukh, Joseph G. Gleeson, Elaine Goh, Vykuntaraju K Gowda, Tobias B. Haack, Stefan Häuser, Henry Houlden, Kevin Huang, Hane Lee, James R. Lupski, Hope Northrup, Denis M. Nyaga, Carol Saunders, Maha S. Zaki, Christiane Zweier, Jean-François Trempe, Ziv Gan-Or, Gaurav K. Varshney, Reza Maroofian, Reem Al-Khater, Mahmoud Bassiony, Marwa Abd Elmaksoud, Kirsty McWalter
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Nature
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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
CONFLICT OF INTEREST STATEMENT No conflicts of interest are declared. Supporting Information Filename Description ajmga63798-sup-0001-FigureS1.pptxPowerPoint 2007 presentation , 482.8 KB Figure S1. Patient 1 (A) and Patient 2 (B) demonstrating low-set ears, neck webbing, and scoliosis. ajmga63798-sup-0002-Supplemental_data.docxWord 2007 document , 15.2 KB Data S1. Supplemental Data. REFERENCES , , , , , , … (2007).
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
CONFLICT OF INTEREST STATEMENT No conflicts of interest are declared. Supporting Information Filename Description ajmga63798-sup-0001-FigureS1.pptxPowerPoint 2007 presentation , 482.8 KB Figure S1. Patient 1 (A) and Patient 2 (B) demonstrating low-set ears, neck webbing, and scoliosis. ajmga63798-sup-0002-Supplemental_data.docxWord 2007 document , 15.2 KB Data S1. Supplemental Data. REFERENCES , , , , , , … (2007).
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
1 INTRODUCTION Familial hypercholesterolemia (FH, MIM: PS143890) is a genetic disorder characterized by an increase of total cholesterol (TC) and low-density lipoproteins-cholesterol (LDL-C). It can be caused by defects in genes involved in cholesterol regulations such as the low-density lipoprotein receptor gene, LDLR (MIM: 606945). LDLR, associated with familial hypercholesterolemia type I (MIM: 143890) (Hobbs et al., 1992), mediates endocytosis of cholesterol-rich low-density lipoprotein.
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
1 INTRODUCTION Chromodomain helicase DNA-binding protein 2 (CHD2, MIM: 602119) is a member of the CHD family, which comprises an SNF2-related helicase/ATPase domain and a chromatin-remodelling domain (chromodomain) (Lamar & Carvill, 2018). The CHD family of proteins affects the expression of genes by modification of chromatin structure, leading to alterations of the accessibility of transcriptional regulators to the DNA template (Liu et al., 2015; Wilson et al., 2021).
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Materials And Methods Study population The study was approved by the National Human Genome Research Institute (NHGRI) central Institutional Review Board (IRB; registration number 00000014). 15. Splinter K. Hull S.C. Holm I.A. et al. Implementing the single institutional review board model: lessons from the Undiagnosed Diseases Network. From 234 referrals, a total of 113 probands were accepted and evaluated at the UCLA clinical site during the first phase of UDN (July 2014 to August 2018).
Clinical application of next-generation sequencing to the practice of neurology
Pihlstrom L Wiethoff S Houlden H Genetics of neurodegenerative diseases: an overview. Handb Clin Neurol. 2017; 145: 309-323 Negi SK Guda C Global gene expression profiling of healthy human brain and its application in studying neurological disorders. Sci Rep. 2017; 7: 897 Gardiner AR Bhatia KP Stamelou M et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology.
Next generation sequencing in clinical diagnosis
Next-generation sequencing (NGS) was developed more than a decade ago to facilitate sequencing of large amounts of genomic data. Use of NGS in clinical diagnosis is now widely accepted, with varying roles from gene panel or targeted sequencing, through whole exome sequencing (also termed clinical exome sequencing), to whole genome sequencing. NGS was first applied to clinical diagnosis when clinical exome sequencing was launched in 2012.
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. Objective To report on initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types.
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