Emily Hrach

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia

Katerina L. Aris, Richard E. Kirschner, Emily Hrach, Brandon Stone

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2 . Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable congenital anomalies. Gastrointestinal anomalies include esophageal atresia …

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O27: Diagnostic yield and clinical utility of rapid genome sequencing in an unrestricted NICU cohort

Emily Hrach, Allison C. Daley, Bimal Chaudhari

Rapid genome sequencing (rGS) is increasingly becoming standard practice for critically ill neonates due to its impressive turnaround time and diagnostic yield. As part of a broader study to develop and validate an in-house rGS assay, a cohort of neonates clinically consented …

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Assessing patient perceptions and understandings of genetic testing after pregnancy loss

Emily Hrach, Jenna Colavincenzo Carlson, Robin E. Grubs, Elizabeth Sheehan et autres

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ASSESSING PATIENT PERCEPTIONS AND UNDERSTANDINGS OF GENETIC TESTING AFTER PREGNANCY LOSS

Emily Hrach, Jenna Colavincenzo Carlson, Robin E. Grubs, Elizabeth Sheehan et autres

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