Identification of gene variants in indonesian hirschsprung disease patients using whole exome sequencing

EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 149-150, 2022

Authors: Gunadi, AS Kalim, Marcellus, DA Puspitarani, K Iskandar, GDN Astuti

Scrutinizing pathogenicity of the ush2a c. 2276 g> t; p.(cys759phe) variant

NPJ GENOMIC MEDICINE 7 (1), 1-9, 2022

Authors: J Reurink, E de Vrieze, CHZ Li, E van Berkel, S Broekman, M Aben, ...

Genetic analysis of over 100 inherited retinal disease probands using whole genome sequencing and in vitro splice assays

IRISH JOURNAL OF MEDICAL SCIENCE 191 (SUPPL 3), S78-S79, 2022

Authors: L Whelan, Z Fadaie, T Ben-Yosef, A Dockery, Z Corradi, C Gilissen, ...

De novo mutations in children born after medical assisted reproduction

HUMAN REPRODUCTION 37 (6), 1360-1369, 2022

Authors: RM Smits, MJ Xavier, MS Oud, GDN Astuti, AM Meijerink, PF de Vries, ...

Inherited variants in chd3 show variable expressivity in snijders blok-campeau syndrome

GENETICS IN MEDICINE 24 (6), 1283-1296, 2022

Authors: J Van der Spek, J Den Hoed, LS Blok, AJM Dingemans, D Schijven, ...

A de novo paradigm for male infertility

NATURE COMMUNICATIONS 13 (1), 1-10, 2022

Authors: MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ...

A de novo paradigm for male infertility

Authors: J Veltman, M Oud, R Smits, H Smith, F Mastrorosa, G Holt, B Houston, ...

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

HUMAN REPRODUCTION 36 (9), 2597-2611, 2021

Authors: MS Oud, BJ Houston, L Volozonoka, FK Mastrorosa, GS Holt, ...

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

NPJ GENOMIC MEDICINE 6 (1), 1-11, 2021

Authors: Z Fadaie, L Whelan, T Ben-Yosef, A Dockery, Z Corradi, C Gilissen, ...

Presence of genetic variants among young men with severe covid-19

JAMA 324 (7), 663-673, 2020

Authors: CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G Van Den Heuvel, ...