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Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenet Genome Res. 2018;156(2):65-70. doi: 10.1159/000493381. Epub 2018 Oct 5.
Cytogenet Genome Res. 2018.
PMID: 30286452
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Hu J, Ou Z, Surti U, Kochmar S, Hoffner L, Madan-Khetarpal S, Arnold GL, Walsh L, Acquaro R, Sebastian J, Yatsenko SA.
Hu J, et al. Among authors: acquaro r.
Am J Med Genet A. 2020 Apr;182(4):813-822. doi: 10.1002/ajmg.a.61482. Epub 2020 Jan 8.
Am J Med Genet A. 2020.
PMID: 31913574
Review.
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Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.
Liang J, Alfano DN, Squires JE, Riley MM, Parks WT, Kofler J, El-Gharbawy A, Madan-Kheterpal S, Acquaro R, Picarsic J.
Liang J, et al. Among authors: acquaro r.
Pediatr Dev Pathol. 2017 Nov-Dec;20(6):498-505. doi: 10.1177/1093526616686890. Epub 2017 Mar 15.
Pediatr Dev Pathol. 2017.
PMID: 28403691
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