Elfriede De Baere (Elfride De Baere, Elfride de Baere)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 37

Top Topics

Dna Methylation

Diabetic Retinopathy

Top Venues

Nature communications

Ophthalmic genetics

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Hannes Syryn, Julie Van de Velde, Griet De Clercq, Hannah Verdin, Annelies Dheedene, Frank Peelman, Andrew Sinclair, Katie L Ayers, Ross A D Bathgate, Martine Cools, Elfriede De Baere
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis. Human reproduction (Oxford, England) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics 106 (2) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Eva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martinez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfriede De Baere
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome biology 25 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Eva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martinez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfriede De Baere
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome biology 25 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics (2024)
Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfriede De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians. Nature communications 15 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfriede De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians. Nature communications 15 (1) (2024)
Eva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martinez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfriede De Baere
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome biology 25 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, null null, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfriede De Baere
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nature communications 15 (1) (2024)
Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfriede De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians. Nature communications 15 (1) (2024)
Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfriede De Baere, Adrian F Daly, Vincent Bours, Patrick Pétrossians, Axelle Pintiaux
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. Journal of clinical medicine 12 (3) (2023)
Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfriede De Baere, Adrian F Daly, Vincent Bours, Patrick Pétrossians, Axelle Pintiaux
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. Journal of clinical medicine 12 (3) (2023)
Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfriede De Baere, Adrian F Daly, Vincent Bours, Patrick Pétrossians, Axelle Pintiaux
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. Journal of clinical medicine 12 (3) (2023)
Nawid Faizi, Ingele Casteels, Bruno Termote, Paul J Coucke, Elfriede De Baere, Marieke De Bruyne, Irina Balikova
High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation. Ophthalmic genetics 43 (5) (2022)
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. International journal of molecular sciences 23 (12) (2022)
Leslie Naesens, Santoshi Muppala, Dhiraj Acharya, Josephine Nemegeer, Delfien J Bogaert, Jung-Hyun Lee, Katrien Staes, Veronique Debacker, Pieter de Bleser, Marieke De Bruyne, Elfriede De Baere, Michiel Van Gent, Guan Qun Liu, Bart N Lambrecht, Jens Staal, Tessa Kerre, Rudi Beyaert, Jonathan Maelfait, Simon J Tavernier, Michaela U Gack, Filomeen Haerynck
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141 . Science immunology 7 (77) (2022)
Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Peluso Francesca, Elfriede De Baere, Christina Zeitz, Bart Peter Leroy, Jacopo Secci, Giacomo M Bacci
Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series. Ophthalmic genetics (2022)
Justine Vandeputte, Mattias Van Heetvelde, Caroline Van Cauwenbergh, Sara Seneca, Elfriede De Baere, Bart Peter Leroy, Julie De Zaeytijd
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. Ophthalmic genetics 42 (4) (2021)
Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H Z Li, Mary J van Schooneveld, Inge Joniau, Elfriede De Baere, Ralph J Florijn, Arthur A Bergen, Carel B Hoyng, Michel Michaelides, Bart P Leroy, Camiel J F Boon
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Genes 12 (9) (2021)
Tom Van Hoorde, Fanny Nerinckx, Elke Kreps, Dimitri Roels, Philippe Huyghe, Mattias Van Heetvelde, Hannah Verdin, Elfriede De Baere, Irina Balikova, Bart Peter Leroy
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Ophthalmic genetics 42 (4) (2021)
Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfriede De Baere, Bart Peter Leroy
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. Ophthalmic genetics 42 (5) (2021)
Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, Michelle Peng, Denise Williams, John R Ainsworth, Andrew R Webster, Bart P Leroy, Anthony T Moore, Elfriede De Baere
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Scientific reports 10 (1) (2020)
Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Teddy Jégu, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane M Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte Bang Pedersen, Florentine Radelfahr, Carlo Rivolta, Bart Peter Leroy, Elfriede De Baere, Frauke Coppieters
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Human mutation 41 (5) (2020)
Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, Toon Rosseel, Jim Bauwens, Kim De Leeneer, Sarah De Jaegere, Thalia Van Laethem, Meindert De Vries, Keren Carss, Gavin Arno, Ana Fakin, Andrew R Webster, Thomy J L de Ravel de l'Argentière, Yves Sznajer, Marnik Vuylsteke, Susanne Kohl, Bernd Wissinger, Timothy Cherry, Rob W J Collin, Frans P M Cremers, Bart P Leroy, Elfriede De Baere
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genetics in medicine : official journal of the American College of Medical Genetics 21 (8) (2019)
Stijn Van de Sompele, Lucie Pécheux, Jorge Couso, Audrey Meunier, Mayka Sanchez, Elfriede De Baere
Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Scientific reports 7 (1) (2017)