Luiza Ramos

ORCID: 0000-0003-1668-1683
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About
Contact & Profiles
Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Epilepsy research and treatment
  • Genetic factors in colorectal cancer
  • Nuclear Receptors and Signaling
  • RNA Research and Splicing
  • Lipid Membrane Structure and Behavior
  • RNA modifications and cancer
  • Autism Spectrum Disorder Research
  • Sphingolipid Metabolism and Signaling
  • Chromatin Remodeling and Cancer
  • Amino Acid Enzymes and Metabolism
  • Thyroid and Parathyroid Surgery
  • Cellular transport and secretion
  • Metabolism and Genetic Disorders
  • Glycogen Storage Diseases and Myoclonus
  • RNA regulation and disease
  • Mitochondrial Function and Pathology

Vlaams Instituut voor Biotechnologie
2024

University of Antwerp
2022-2024

VIB-UAntwerp Center for Molecular Neurology
2022-2024

Medical University of Sofia
2024

Mendelics
2019-2022

Genomic (Brazil)
2019-2022

Universidade de São Paulo
2022

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2020

Anne O’Donnell‐Luria Lynn Pais Víctor Faúndes Jordan C. Wood Abigail Sveden and 95 more Victor Luria Rami Abou Jamra Andrea Accogli Kimberly Amburgey Britt Marie Anderlid Silvia Azzarello‐Burri Alice Basinger Claudia Bianchini Lynne M. Bird Rebecca Buchert Wilfrid Carré Sophia Ceulemans Perrine Charles Helen Cox Lisa Culliton Aurora Currò Florence Démurger James J. Dowling Bénédicte Duban‐Bedu Christèle Dubourg Saga Elise Eiset Luis Escobar Alessandra Ferrarini Tobias B. Haack Mona Hashim Solveig Heide Katherine L. Helbig Ingo Helbig Raúl Jiménez Heredia Delphine Héron Bertrand Isidor Amy R. Jonasson Pascal Joset Boris Keren Fernando Kok Hester Y. Kroes Alinoë Lavillaureix Xin Lü Saskia M. Maas Gustavo Maegawa Carlo Marcelis Paul R. Mark Marcelo Rodrigues Masruha Heather M. McLaughlin Kirsty McWalter Esther U. Melchinger Saadet Mercimek‐Andrews Caroline Nava Manuela Pendziwiat Richard Person Gian Paolo Ramelli Luiza Ramos Anita Rauch Caitlin Reavey Alessandra Renieri Angelika Rieß Amarilis Sanchez‐Valle Shifteh Sattar Carol J. Saunders Niklas Schwarz Thomas Smol Myriam Srour Katharina Steindl Steffen Syrbe Jenny C. Taylor Aida Telegrafi Isabelle Thiffault Doris A. Trauner Hélio van der Linden Silvana van Koningsbruggen Laurent Villard Ida Vogel Julie Vogt Yvonne G. Weber Ingrid M. Wentzensen Elysa Widjaja Jaroslav Žák Samantha Baxter Siddharth Banka Lance H. Rodan Jeremy F. McRae Stephen Clayton Tomas Fitzgerald Joanna Kaplanis Elena Prigmore Diana Rajan Alejandro Sifrim Stuart Aitken Nadia Akawi Mohsan Alvi Kirsty Ambridge Daniel M. Barrett Tanya Bayzetinova Philip Jones Wendy D. Jones

10.1016/j.ajhg.2019.03.021 article EN publisher-specific-oa The American Journal of Human Genetics 2019-05-09

Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with strong genetic component. An excess likely gene-disruptive (LGD) mutations in GIGYF1 was implicated ASD. Here, we report that is the second-most mutated gene among known ASD high-confidence risk genes. We investigated inheritance 46 LGD variants, including highly recurrent mutation c.333del:p.L111Rfs*234. Inherited heterozygous variants were 1.8 times more common than de novo mutations. Among individuals...

10.1172/jci159806 article EN cc-by Journal of Clinical Investigation 2022-08-02

The maintenance of lipid asymmetry on the plasma membrane is regulated by flippases, such as ATP8A2, ATP11A, and ATP11C, which translocate phosphatidylserine phosphatidylethanolamine from outer leaflet to inner leaflet. We previously identified a patient-derived point mutation (Q84E) in ATP11A at phospholipid entry site, acquired ability flip phosphatidylcholine (PtdCho). This led elevated levels sphingomyelin (SM) membrane. herein present two de novo dominant mutations (E114G S399L)...

10.1073/pnas.2415755121 article EN cc-by-nc-nd Proceedings of the National Academy of Sciences 2024-10-21

Abstract Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed number monogenic origins opened the door to therapeutic hopes. Here we describe new syndromic developmental encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented 11 patients from six independent consanguineous families. Seizure onset occurred first 2 months life all...

10.1093/brain/awaa085 article EN cc-by Brain 2020-03-06

The blood-brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity barrier. We have identified de novo heterozygous missense variants in CLDN5 15 unrelated patients who presented with a shared constellation features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly recognizable pattern pontine atrophy brain calcifications. All clustered one...

10.1093/brain/awac461 article EN Brain 2022-12-08

Recognition of a de novo mutation in NR4A2 associated with neurodevelopmental phenotype reinforces its role 2q23q24 microdeletion syndrome. Using the proband WES data and probability loss-of-function intolerance index (pLi) set at 1.0 (highest constraint), we could target as candidate gene this patient.

10.1002/ccr3.2260 article EN cc-by Clinical Case Reports 2019-07-11

ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning several acid hydrolases. De novo monoallelic variants this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), multiple without cognitive involvement. Epilepsy is not observed in DDOD, variably present ZLS2, but common feature 1 (ZLS1) (caused...

10.1684/epd.2020.1166 article EN Epileptic Disorders 2020-06-01
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