Recent Publications

CitationLink
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
GCNA Preserves Genome Integrity and Fertility Across SpeciesPubMed Link
Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q)PubMed Link
Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessmentPubMed Link

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