Recent Publications

CitationLink
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)PubMed Link
Reproductive outcomes in individuals with chromosomal reciprocal translocationsPubMed Link
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failurePubMed Link
Mixed phenotype acute leukemia in a child associated with a NUP98-NSD1 fusion and NRAS p.Gly61Arg mutationPubMed Link
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary choreaPubMed Link
Clinicopathologic Characterization of Hypocellular Acute Myeloid Leukemia (AML) Showed Fewer Genetic Abnormalities Involving Cell Proliferation and NPM1 When Compared With Nonhypocellular AMLPubMed Link
Cytogenetic signatures of recurrent pregnancy lossesPubMed Link
Copy number alterations involving 59 ACMG-recommended secondary findings genesPubMed Link
Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic AnalysisPubMed Link
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testingPubMed Link
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testingPubMed Link
In vivo modeling of metastatic human high-grade serous ovarian cancer in micePubMed Link
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) genePubMed Link
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)PubMed Link
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testingPubMed Link

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