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Rohanizadegan, Mersedeh; Sacharow, Stephanie (2018) Desmosterolosis presenting with multiple congenital anomalies. Eur J Med Genet 61:152-156
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Gray, Kathryn J; Saxena, Richa; Karumanchi, S Ananth (2018) Genetic predisposition to preeclampsia is conferred by fetal DNA variants near FLT1, a gene involved in the regulation of angiogenesis. Am J Obstet Gynecol 218:211-218
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Pectasides, Eirini; Stachler, Matthew D; Derks, Sarah et al. (2018) Genomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma. Cancer Discov 8:37-48
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Viswanatha, Raghuvir; Li, Zhongchi; Hu, Yanhui et al. (2018) Pooled genome-wide CRISPR screening for basal and context-specific fitness gene essentiality in Drosophila cells. Elife 7:
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Currall, Benjamin B; Chen, Ming; Sallari, Richard C et al. (2018) Loss of LDAH associated with prostate cancer and hearing loss. Hum Mol Genet 27:4194-4203
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Arachchi, Harindra; Wojcik, Monica H; Weisburd, Benjamin et al. (2018) matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39:1827-1834
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Jones, Kelly L; McNamara, Erin A; Longoni, Mauro et al. (2018) Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. Am J Med Genet A 176:2435-2445
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Wojcik, Monica H; Schwartz, Talia S; Yamin, Inbar et al. (2018) Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med 20:1396-1404
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Rohanizadegan, Mersedeh (2018) Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker. Cancer Genet 228-229:159-168
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Demirbas, Didem; Brucker, William J; Berry, Gerard T (2018) Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am 65:337-352
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