Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, Dewhurst, Eleanor, Low, Kayyi, French, Courtney E., Grozeva, Detelina, Stirrups, Kathleen, Erwood, Marie, McTague, Amy, Penkett, Christopher J., Shamardina, Olga, Tuna, Salih, Daugherty, Louise C., Gleadall, Nicholas, Duarte, Sofia T., Hedrera-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, Carss, Keren J.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Journal Article
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S, Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien
Published in Orphanet journal of rare diseases (14.10.2022)
Published in Orphanet journal of rare diseases (14.10.2022)
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Journal Article
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Armirola-Ricaurte, Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor-Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayşe Ipek, Yiş, Uluç, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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Journal Article
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Armirola-Ricaurte, Camila, Morant, Laura, Adant, Isabelle, Hamed, Sherifa Ahmed, Pipis, Menelaos, Efthymiou, Stephanie, Amor-Barris, Silvia, Atkinson, Derek, Van de Vondel, Liedewei, Tomic, Aleksandra, de Vriendt, Els, Zuchner, Stephan, Ghesquiere, Bart, Hanna, Michael, Houlden, Henry, Lunn, Michael P, Reilly, Mary M, Rasic, Vedrana Milic, Jordanova, Albena
Published in medRxiv : the preprint server for health sciences (04.07.2024)
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Published in medRxiv : the preprint server for health sciences (04.07.2024)
Journal Article