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Hackmann, Karl
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1

Limitations in next-generation sequencing-based genotyping ..:

Baumann, Alexandra ; Ruckert, Christian ; Meier, Christoph...
European Journal of Human Genetics.  32 (2024)  8 - p. 987-997 , 2024
Link: https://doi.org/10.1038/..
 
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2

Transmission ratio distortion of mutations in the master re..:

Neitzel, Heidemarie ; Varon, Raymonda ; Chughtai, Sana...
Human Genetics.  141 (2022)  11 - p. 1785-1794 , 2022
Link: https://doi.org/10.1007/..
 
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3

Uncovering the Contribution of Moderate-Penetrance Suscepti..:

Dumont, Martine ; Weber-Lassalle, Nana ; Joly-Beauparlant, Charles...
Cancers.  14 (2022)  14 - p. 3363 , 2022
Link: https://doi.org/10.3390/..
 
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4

Correction: Integrative analysis of genomic variants reveal..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics.  17 (2021)  9 - p. e1009809 , 2021
Link: https://doi.org/10.1371/..
 
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5

Integrative analysis of genomic variants reveals new associ..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics.  17 (2021)  7 - p. e1009679 , 2021
Link: https://doi.org/10.1371/..
 
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6

Correction: Diagnostic value of partial exome sequencing in..:

Gieldon, Laura ; Mackenroth, Luisa ; Kahlert, Anne-Karin...
PLOS ONE.  15 (2020)  9 - p. e0239959 , 2020
Link: https://doi.org/10.1371/..
 
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7

Congenital hiatal hernia segregating with a duplication in ..:

Chang, Caitlin A. ; Di Donato, Nataliya ; Hackmann, Karl...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 3040-3047 , 2020
Link: https://doi.org/10.1002/..
 
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8

Novel dominant-negative NR2F1 frameshift mutation and a phe..:

Walsh, Sonja ; Gösswein, Sophie Scarlett ; Rump, Andreas...
European Journal of Medical Genetics.  63 (2020)  10 - p. 104019 , 2020
Link: https://doi.org/10.1016/..
 
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9

Optimizing Genetic Workup in Pheochromocytoma and Paragangl..:

Gieldon, Laura ; William, Doreen ; Hackmann, Karl...
Cancers.  11 (2019)  6 - p. 809 , 2019
Link: https://doi.org/10.3390/..
 
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10

Novel truncating PPM1D mutation in a patient with intellect..:

Porrmann, Joseph ; Rump, Andreas ; Hackmann, Karl...
European Journal of Medical Genetics.  62 (2019)  1 - p. 70-72 , 2019
Link: https://doi.org/10.1016/..
 
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11

Targeted capture-based NGS is superior to multiplex PCR-bas..:

Zakrzewski, Falk ; Gieldon, Laura ; Rump, Andreas...
BMC Cancer.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Homozygous deletion of the entire AAAS gene in a triple A s..:

Koehler, Katrin ; Hackmann, Karl ; Landgraf, Dana...
European Journal of Medical Genetics.  62 (2019)  7 - p. 103665 , 2019
Link: https://doi.org/10.1016/..
 
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13

The identification of pathogenic variants in BRCA1/2 negati..:

Schubert, Stephanie ; van Luttikhuizen, Jana L. ; Auber, Bernd...
International Journal of Cancer.  144 (2019)  11 - p. 2683-2694 , 2019
Link: https://doi.org/10.1002/..
 
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14

Breast cancer patients suggestive of Li-Fraumeni syndrome: ..:

Penkert, Judith ; Schmidt, Gunnar ; Hofmann, Winfried...
Breast Cancer Research.  20 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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15

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/..:

Rizza, Roberta ; Hackmann, Karl ; Paris, Ida...
Molecular Diagnosis & Therapy.  23 (2018)  1 - p. 121-126 , 2018
Link: https://doi.org/10.1007/..
 
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