Bloom syndrome does not always present with sun-sensitive facial erythema

Autor: Bouman, Arjan, van Koningsbruggen, Silvana, Karakullukcu, M. Bariş, Schreuder, Willem Hans, Lakeman, Phillis

Publikováno v: In European Journal of Medical Genetics February 2018 61(2):94-97

Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing

Autor: van de Burgt, Nikita, van Koningsbruggen, Silvana, Behrens, Leonie, Leibold, Nicole, Martinez-Martinez, Pilar, Mannens, Marcel, van Amelsvoort, Therese

Publikováno v: In Journal of Psychiatric Research June 2021 138:125-129

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Autor: O'Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Deciphering Developmental Disorders (DDD) Study, Demurger, Florence, Dowling, James J, Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F, Ferrarini, Alessandra, Haack, Tobias B, Hashim, Mona, Heide, Solveig, Helbig, Katherine L, Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R, Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y, Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M, Maegawa, Gustavo HB, Marcelis, Carlo LM, Mark, Paul R, Masruha, Marcelo R, McLaughlin, Heather M, McWalter, Kirsty, Melchinger, Esther U, Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza LP, Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C, Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A, van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G, Wentzensen, Ingrid M, Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H

Publikováno v: American journal of human genetics, vol 104, iss 6

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3ae35fd927d079595bed9e186fb8d6fe
https://openaccess.sgul.ac.uk/id/eprint/113838/1/O'Donnell-LuriaetalAAM2019.pdf

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