Publications:

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: HMCN1: 7163G>A; Gly2388Glu

PubMed Link: 36259723

Variant Present in the following documents:

• HUMU-43-2234-s006.xlsx, sheet 1
• HUMU-43-2234-s014.xlsx, sheet 1

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Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Plos One

Agha, Zehra Z; Iqbal, Zafar Z; Azam, Maleeha M; Ayub, Humaira H; Vissers, Lisenka E L M LE; Gilissen, Christian C; Ali, Syeda Hafiza Benish SH; Riaz, Moeen M; Veltman, Joris A JA; Pfundt, Rolph R; van Bokhoven, Hans H; Qamar, Raheel R

Publication Date: 2014

Variant appearance in text: HMCN1: 7163G>A; Gly2388Glu

PubMed Link: 25405613

Variant Present in the following documents:

• Main text
• pone.0112687.pdf

View BVdb publication page