Recent Publications

CitationLink
Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiencyPubMed Link
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variantsPubMed Link
Single-cell morphological and transcriptome analysis unveil inhibitors of polyploid giant breast cancer cells in vitroPubMed Link
Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease typePubMed Link
45,X/46,XY mosaicism: Clinical manifestations and long term follow-upPubMed Link
ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermiaPubMed Link
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart DiseasePubMed Link
Unexpected MYC::DMD translocation after transformation of follicular lymphoma with IGH::BCL2 and IGH::MYCPubMed Link
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genesPubMed Link
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiencyPubMed Link
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and VariantsPubMed Link
Recombinant von Willebrand factor and tranexamic acid for heavy menstrual bleeding in patients with mild and moderate von Willebrand disease in the USA (VWDMin): a phase 3, open-label, randomised, crossover trialPubMed Link
Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failurePubMed Link
Genomics of myelodysplastic/myeloproliferative neoplasmPubMed Link
Novel FIP1L1::KIT fusion in a myeloid neoplasm with eosinophilia, T-lymphoblastic transformation, and dasatinib responsePubMed Link

To see more publications on PubMed, follow this link.

Recent Publications

CitationLink
Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiencyPubMed Link
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variantsPubMed Link
Single-cell morphological and transcriptome analysis unveil inhibitors of polyploid giant breast cancer cells in vitroPubMed Link
Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease typePubMed Link
45,X/46,XY mosaicism: Clinical manifestations and long term follow-upPubMed Link
ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermiaPubMed Link
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart DiseasePubMed Link
Unexpected MYC::DMD translocation after transformation of follicular lymphoma with IGH::BCL2 and IGH::MYCPubMed Link
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genesPubMed Link
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiencyPubMed Link
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and VariantsPubMed Link
Recombinant von Willebrand factor and tranexamic acid for heavy menstrual bleeding in patients with mild and moderate von Willebrand disease in the USA (VWDMin): a phase 3, open-label, randomised, crossover trialPubMed Link
Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failurePubMed Link
Genomics of myelodysplastic/myeloproliferative neoplasmPubMed Link
Novel FIP1L1::KIT fusion in a myeloid neoplasm with eosinophilia, T-lymphoblastic transformation, and dasatinib responsePubMed Link

To see more publications on PubMed, follow this link.