Network Analysis of Differential Expression for the Identification of Disease-Causing Genes

por Nitsch, Daniela, Tranchevent, Léon-Charles, Thienpont, Bernard, Thorrez, Lieven, Van Esch, Hilde, Devriendt, Koenraad, Moreau, Yves
Publicado 2009

Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

por Lumaka, Aimé, Lukoo, Rita, Mubungu, Gerrye, Lumbala, Paul, Mbayabo, Gloire, Mupuala, Aimée, Tshilobo, Prosper Lukusa, Devriendt, Koenraad
Publicado 2016

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

por Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Publicado 2018

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

por De Somer, Lien, Wouters, Carine, Morren, Marie-Anne, De Vos, Rita, Van Den Oord, Joost, Devriendt, Koenraad, Meyts, Isabelle
Publicado 2010

Platelet studies in autism spectrum disorder patients and first-degree relatives

por Bijl, Nora, Thys, Chantal, Wittevrongel, Christine, De la Marche, Wouter, Devriendt, Koenraad, Peeters, Hilde, Van Geet, Chris, Freson, Kathleen
Publicado 2015

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo

por Ngole, Mamy, Race, Valerie, Mbayabo, Gloire, Lumbala, Paul, Songo, Cathy, Lukusa, Prosper Tshilobo, Devriendt, Koenraad, Matthijs, Gert, Lumaka, Aimé
Publicado 2022

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

por Mbuyi-Musanzayi, Sébastien, Lumaka, Aimé, Yogolelo Asani, Bienvenu, Lubala Kasole, Toni, Lukusa Tshilobo, Prosper, Kalenga Muenze, Prosper, Tshilombo Katombe, François, Devriendt, Koenraad
Publicado 2014

Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa

por Kabuyi, Paul Lumbala, Mbayabo, Gloire, Ngole, Mamy, Zola, Aimé Lumaka, Race, Valerie, Matthijs, Gert, Van Geet, Chris, Tshilobo, Prosper Lukusa, Devriendt, Koenraad, Mikobi, Tite Minga
Publicado 2023

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

por Barriot, Roland, Breckpot, Jeroen, Thienpont, Bernard, Brohée, Sylvain, Van Vooren, Steven, Coessens, Bert, Tranchevent, Leon-Charles, Van Loo, Peter, Gewillig, Marc, Devriendt, Koenraad, Moreau, Yves
Publicado 2010

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

por Lumaka, Aimé, Carstens, Nadia, Devriendt, Koenraad, Krause, Amanda, Kulohoma, Benard, Kumuthini, Judit, Mubungu, Gerrye, Mukisa, John, Nel, Melissa, Olanrewaju, Timothy O., Lombard, Zané, Landouré, Guida
Publicado 2022

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa

por Lumbala, Paul Kabuyi, Mbayabo, Gloire, Ngole, Mamy Nzita, Lumaka, Aimé, Race, Valerie, Matthijs, Gert, Van Geet, Chris, Lukusa, Prosper Tshilobo, Devriendt, Koenraad, Mikobi, Tite Minga
Publicado 2022

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

por De Rechter, Stéphanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, François, Bammens, Bert, Borry, Pascal, Schaefer, Franz, Mekahli, Djalila
Publicado 2017

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

por Louw, Jacoba J., Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M., Barr, Francis, Devriendt, Koenraad
Publicado 2018

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability

por Mubungu, Gerrye, Lumaka, Aimé, Matondo, Rosette, Mbayabo, Gloire, Tuka, Deborah, Kayembe, Claudarche, Mulowhe, Didier, Molua, Antoine, Tady, Bruno-Paul, Nkidiaka, Emmanuel, Bunga, Paulo, Lukusa Tshilobo, Prosper, Devriendt, Koenraad
Publicado 2014

Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia

por Mbayabo, Gloire, Lumbala Kabuyi, Paul, Ngole, Mamy, Lumaka, Aimé, Race, Valerie, Maisin, Diane, Gruson, Damien, Matthijs, Gert, Minga, Tite Mikobi, Devriendt, Koenraad, Van Geet, Chris, Tshilobo, Prosper Lukusa
Publicado 2022

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

por Mbuyi-Musanzayi, Sébastien, Lubala Kasole, Toni, Lumaka, Aimé, Kayembe Kitenge, Tony, Kabamba Ngombe, Leon, Kalenga Muenze, Prosper, Lukusa Tshilobo, Prosper, Tshilombo Katombe, François, Banza Lubaba Nkulu, Célestin, Devriendt, Koenraad
Publicado 2014

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

por Rodrigues Bento, Jotte, Feben, Candice, Kempers, Marlies, van Rij, Maartje, Woiski, Mallory, Devriendt, Koenraad, De Catte, Luc, Baldewijns, Marcella, Alaerts, Maaike, Meester, Josephina, Verstraeten, Aline, Hendson, Willy, Loeys, Bart
Publicado 2021

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

por Griffiths, Pam, Strong, Kate, Gardner, Sara, Day, Ruth, Harrison, Caroline, Bronwyn, Kerr, Metcalfe, Kay, Brunner, Han, Donnai, Dian, Dallapiccola, Bruno, Devriendt, Koenraad, Krajewska-Walasek, Malgorzata, Philip, Nicole, Clayton-Smith, Jill
Publicado 2010

Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets

por Che, Huiwen, Jatsenko, Tatjana, Lannoo, Lore, Stanley, Kate, Dehaspe, Luc, Vancoillie, Leen, Brison, Nathalie, Parijs, Ilse, Van Den Bogaert, Kris, Devriendt, Koenraad, Severi, Sabien, De Langhe, Ellen, Vermeire, Severine, Verstockt, Bram, Van Calsteren, Kristel, Vermeesch, Joris Robert
Publicado 2022

A catalog of hemizygous variation in 127 22q11 deletion patients

por Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Publicado 2016