List of Publications
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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)
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Defining the clinical phenotype of Saul-Wilson syndrome
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia Z-J, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB
Genetics in medicine : official journal of the American College of Medical Genetics. 2020;22(5):857–66
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Skeletal ciliopathies: a pattern recognition approach
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Japanese journal of radiology. 2020 Mar;38(3):193–206.
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An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Bindels‐de Heus KGCB, Mous SE, Hooven‐Radstaake M, Iperen‐Kolk BM, Navis C, Rietman AB, Hoopen LW, Brooks AS, Elgersma Y, Moll HA, Wit MY
American Journal of Medical Genetics Part A. 2020 Jan 15;182(1):53–63.