Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
Lin S et al.
Molecular Cytogenetics, 2024
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
Chen YW et al.
International Journal of Molecular Sciences, 2021
Renpenning syndrome in an Indian patient.
Masih S et al.
American Journal of Medical Genetics. Part A, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers.
Rahman SK et al.
Journal of Structural Biology, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M et al.
Plos One, 2018
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