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Lovisa Lovmar

Sahlgrenska University Hospital

7

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41

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The utility of whole genome sequencing in rare disease diagnostics

2021 Läkartidningen
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NGS targeted screening of 100 Scandinavian patients with coronal synostosis

2020 American Journal of Medical Genetics Part A
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Cytogenetically visible inversions are formed by multiple molecular mechanisms.

2020 Human Mutation
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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

2018 PLOS Genetics
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Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome

2018 Frontiers in Endocrinology
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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

2017 American Journal of Medical Genetics Part A
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Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

2013 European Journal of Medical Genetics
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Citations (2)