Ghent University Academic Bibliography

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Your filters: cql: author="Wimmer, Katharina" or (type any "bookEditor issueEditor" and editor="Wimmer, Katharina")

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, et al.

(2020) HUMAN MUTATION.
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- Journal Article
- A1
- open access
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, et al.

(2019) GENETICS IN MEDICINE. 21(4). p.867-876
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Decoding NF1 intragenic copy-number variations

Meng-Chang Hsiao, Arkadiusz Piotrowski, Tom Callens, Chuanhua Fu, Katharina Wimmer, Kathleen Claes (UGent) and Ludwine Messiaen

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(2). p.238-249
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SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Julia Vogt, Kathrin Bengesser, Kathleen Claes (UGent) , Katharina Wimmer, Victor-Felix Mautner, Rick van Minkelen, Eric Legius, Hilde Brems, Meena Upadhyaya, Josef Högel, et al.

(2014) GENOME BIOLOGY. 15(6).
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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

Antje M Zickler, Stephanie Hampp, Ludwine Messiaen, Kathrin Bengesser, Tanja Mussotter, Angelika C Roehl, Katharina Wimmer, Victor-Felix Mautner, Lan Kluwe, Meena Upadhyaya, et al.

(2012) HUMAN MUTATION. 33(2). p.372-383

Academic Bibliography

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Decoding NF1 intragenic copy-number variations

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

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