List of Publications
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Discovery of Novel Sequences in 1,000 Swedish Genomes
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Molecular biology and evolution. 2020 Jan 1;37(1):18–30
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Myers L, Blyth M, Moradkhani K, Hranilović D, Polesie S, Isaksson J, Nordgren A, Bucan M, Vincent M, Bölte S, Anderlid B-M, Tammimies K
Molecular genetics & genomic medicine. 2020;8(1):e1013
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl S, Pettersson M, Eisfeldt J, Schröder AK, Wickström R, Teär Fahnehjelm K, Anderlid B-M, Lindstrand A
PloS one. 2020;15(2):e0228622
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Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
Myers L, Anderlid B-M, Nordgren A, Lundin K, Kuja-Halkola R, Tammimies K, Bölte S
American journal of medical genetics Part A. 2020;182(5):1177–89
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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