Ghent University Academic Bibliography

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

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- Journal Article
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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- A2
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The challenges of the expanded availability of genomic information : an agenda-setting paper

Pascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, Martina C. Cornel, Heidi Carmen Howard, Oliver Feeney, Leigh Jackson, Deborah Mascalzoni, Álvaro Mendes, Borut Peterlin, et al.

(2018) JOURNAL OF COMMUNITY GENETICS. 9(2). p.103-116
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- Miscellaneous
Responsible implementation of expanded carrier screening (vol 24, pg e1, 2016)

Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C. Cornel, Carla G. van El, Francesca Forzano, Alison Hall, Heidi C. Howard, Sandra Janssens (UGent) , Hulya Kayserili, et al.

(2017) EUROPEAN JOURNAL OF HUMAN GENETICS. 25(11). p.1291-1291
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Responsible implementation of expanded carrier screening

Lidewij Henneman, Pascal Borry, DAVIT CHOKOSHVILI (UGent) , Martina C. Cornel, Carla G. van El, Francesca Forzano, Alison Hall, Heidi C. Howard, Sandra Janssens (UGent) , Hulya Kayserili, et al.

(2016) EUROPEAN JOURNAL OF HUMAN GENETICS. 24(6). p.E1-E12

Academic Bibliography

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

The challenges of the expanded availability of genomic information : an agenda-setting paper

Responsible implementation of expanded carrier screening (vol 24, pg e1, 2016)

Responsible implementation of expanded carrier screening

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