Publications
Filters: Author is Lindstrand, Anna [Clear All Filters]
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.. Am J Med Genet A. 182(5):1143-1151.
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2020. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.. Am J Hum Genet. 94(5):745-54.
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2014. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.. Am J Med Genet A. 185(12):3593-3600.
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2021. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.. Am J Hum Genet. 104(3):530-541.
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2019. .
2018. Cytogenetically visible inversions are formed by multiple molecular mechanisms.. Hum Mutat. 41(11):1979-1998.
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2020. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.. Am J Hum Genet. 99(2):318-36.
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2016. .
2021. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.. Am J Hum Genet. 93(2):357-67.
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2013.