Ghent University Academic Bibliography

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

Add to list
- Journal Article
- A1
- open access
Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck (UGent) , Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, et al.

(2023) HUMAN GENOMICS. 17(1).
Add to list
- Journal Article
- A1
- open access
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).
Add to list
- Journal Article
- A1
- open access
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).
Add to list
- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
Add to list
- Journal Article
- A1
- open access
Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Helene Verhelst (UGent) , Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

(2017) BMC MEDICAL GENETICS. 18.

Academic Bibliography

Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

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

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Severe congenital microcephaly with AP4M1 mutation, a case report

Contents

Support

Contact