Raymond J Louie
University of California, San Francisco
H-index: 20
North America-United States
Top articles of Raymond J Louie
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome | Nature Communications | Elizabeth A Werren Geneva R LaForce Anshika Srivastava Delia R Perillo Shaokun Li | 2024/2/22 |
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features | The Journal of Clinical Investigation | Dong Li Qin Wang Allan Bayat Mark R Battig Yijing Zhou | 2024/1/2 |
P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance | Genetics in Medicine Open | Jessica Cooley Coleman Sneha Mokashi Adithya Kandhadai Aubrey Rose Richard Steet | 2024/1/1 |
De novo variants in KCNA3 cause developmental and epileptic encephalopathy | Annals of Neurology | Maria Virginia Soldovieri Paolo Ambrosino Ilaria Mosca Ilenio Servettini Francesca Pietrunti | 2024/2 |
Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001) | Rotem Orbach Safoora Syeda Payam Mohassel Maike Dohrn Museer A Lone | 2024/4/14 | |
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients … | Journal of medical genetics | Katalin Szakszon Charles Marques Lourenco Bert Louis Callewaert David Geneviève Flavien Rouxel | 2024/2/1 |
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation | The American Journal of Human Genetics | Shreyas Bhat Justine Rousseau Coralie Michaud Charles Marques Lourenço Joan M Stoler | 2024/4/4 |
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases | Genetics in Medicine | Jennifer Kerkhof Cassandra Rastin Michael A Levy Raissa Relator Haley McConkey | 2024/1/18 |
Prenatal diagnosis of PIGV-related hyperphosphatasia with impaired intellectual development (HPMRS) through next generation sequencing | Molecular Genetics and Metabolism | William Burns Raymond J Louie Kameryn M Butler Debera Zvejnieks Richard Adams | 2024/4/1 |
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis | Journal of Neurology, Neurosurgery & Psychiatry | Maike F Dohrn Danique Beijer Museer A Lone Elif Bayraktar Piraye Oflazer | 2024/3/1 |
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation | Nature Communications | Andrea Accogli Saurabh Shakya Taewoo Yang Christine Insinna Soo Yeon Kim | 2024/1/8 |
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency | Genetics in Medicine | Jet Coenen-van der Spek Raissa Relator Jennifer Kerkhof Haley McConkey Michael A Levy | 2023/1/1 |
X‐Linked intellectual disability update 2022 | American Journal of Medical Genetics Part A | Charles E Schwartz Raymond J Louie Annick Toutain Cindy Skinner Michael J Friez | 2023/1 |
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders | Human Molecular Genetics | Jessica A Cooley Coleman Jennifer M Gass Sujata Srikanth Rini Pauly Catherine A Ziats | 2023/5/1 |
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease | Kidney International | Laura R Claus Chuan Chen Jennifer Stallworth Joshua L Turner Gisela G Slaats | 2023/11/1 |
P657: NSD2 duplication results in distinct phenotype and DNA methylation signature | Genetics in Medicine Open | Benjamin Hilton Bekim Sadikovic Alfredo Brusco Giovanni Battista Ferrero Barbara DuPont | 2023/1/1 |
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome | Research Square | Elizabeth Werren Geneva LaForce Anshika Srivastava Delia Perillo Katherine Johnson | 2023/9/6 |
P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey | Genetics in Medicine Open | Matthew Tedder Jessica Cooley Coleman Anna Childers Jennifer Kerkhof Raymond Louie | 2023/1/1 |
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder | The American Journal of Human Genetics | Dmitrijs Rots Taryn E Jakub Crystal Keung Adam Jackson Siddharth Banka | 2023/6/1 |
P582: Exon-level copy number variations identified by whole genome sequencing in previously undiagnosed patients with rare hereditary diseases | Genetics in Medicine Open | Jiyong Wang Raymond Caylor Julie Jones Jennifer Lee Raymond Louie | 2023/1/1 |
