List of Publications
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T
American journal of medical genetics Part A. 2020;182(5):1143–51
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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li T-Q, Lindstrand A, Kere J, Tapia-Páez I
BMC medical genetics. 2020;21(1):87
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Preimplantation genetic testing legislation and accessibility in the Nordic countries
Hreinsson J, Lundin K, Iwarsson E, Hausken J, Einarsson S, Grøndahl ML, Hydén-Granskog C, Ingerslev HJ
Acta obstetricia et gynecologica Scandinavica. 2020;99(6):716–21
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Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27
Paucar M, Lundin J, Alshammari T, Bergendal Å, Lindefeldt M, Alshammari M, Solders G, di Re J, Savitcheva I, Granberg T, Laezza F, Iwarsson E, Svenningsson P
Journal of internal medicine. 2020;288(1):103–15
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Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening
Iwarsson E, Conner P
Prenatal diagnosis. 2020;40(7):852–9
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A call for global action for rare diseases in Africa. Nature genetics
Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JK v, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M
2020;52(1):21–6
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p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids 
Marin Navarro A, Pronk RJ, van der Geest AT, Oliynyk G, Nordgren A, Arsenian-Henriksson M, Falk A, Wilhelm M
Cell death & disease. 2020;11(1):52
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Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Andersson K, Malmgren B, Åström E, Nordgren A, Taylan F, Dahllöf G
Orphanet journal of rare diseases. 2020;15(1):80.
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Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome
Bergstrand S, Böhm S, Malmgren H, Norberg A, Sundin M, Nordgren A, Farnebo M
Cell death & disease. 2020;11(4):238
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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Chen Y-H, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH
The Journal of experimental medicine. 2020;217(3)