Associated Papers
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2021
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R et al.
European Journal of Human Genetics : Ejhg, 2020
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