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Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Schmid, Cosima M; Gregor, Anne; Costain, Gregory; Morel, Chantal F; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J; Cohen, Ana S A; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; ... (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in medicine, 25(7), p. 100839. Springer Nature 10.1016/j.gim.2023.100839
Clément, Karine; van den Akker, Erica; Argente, Jesús; Bahm, Allison; Chung, Wendy K; Connors, Hillori; De Waele, Kathleen; Farooqi, I Sadaf; Gonneau-Lejeune, Julie; Gordon, Gregory; Kohlsdorf, Katja; Poitou, Christine; Puder, Lia; Swain, James; Stewart, Murray; Yuan, Guojun; Wabitsch, Martin; Kühnen, Peter (2020). Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. The lancet. Diabetes & endocrinology, 8(12), pp. 960-970. Elsevier 10.1016/S2213-8587(20)30364-8
Casini, Simona; Albesa, Maxime; Wang, Zizun; Portero, Vincent; Ross-Kaschitza, Daniela; Rougier, Jean-Sébastien; Marchal, Gerard A; Chung, Wendy K; Bezzina, Connie R; Abriel, Hugues; Remme, Carol Ann (2019). Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice. International journal of molecular sciences, 20(20) MDPI 10.3390/ijms20205033
Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias; Chung, Wendy K; ... (2015). Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Journal of medical genetics, 52(8), pp. 541-547. BMJ Publishing Group 10.1136/jmedgenet-2015-103104
