Associated Papers
Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.
Campobasso G et al.
Genes, 2025
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL5__PON_in_red_
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY et al.
European Journal of Human Genetics : Ejhg, 2016
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M et al.
American Journal of Human Genetics, 2015
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