Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Autor: Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

Abstract Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarria

Externí odkaz: https://doaj.org/article/cbb336865d6a46b69f88f107894147da

A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties

Autor: Mariam T. Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither, Danielle Mouhlas, Sayaka Hashimoto, Maggie Humphrey, Theodora Matthews, Jesse M. Hunter, Shalini Reshmi, Matthew Schultz, Kristy Lee, Ruthann Pfau, Catherine Cottrell, Kim L. McBride, Nicholas E. Navin, Bimal P. Chaudhari, Marco L. Leung

Publikováno v: The Journal of Molecular Diagnostics. 24:1031-1040

Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0117af0f4a8605e18a92d540ccd02450
https://doi.org/10.1016/j.jmoldx.2022.06.001

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Autor: Bruce D. Gelb, Shalini C. Reshmi, Andrea Ciolfi, Marialetizia Motta, Alessandro Bruselles, Simone Martinelli, Dorothy K. Grange, Larry Walsh, Elisabetta Flex, Martina Di Rocco, Carlos E. Prada, Koen L.I. van Gassen, Luca Pannone, Mariet W. Elting, Simone Pizzi, Eva H. Brilstra, Danielle Mouhlas, Wendy K. Chung, Michelle M. Morrow, Marco Seri, Christina Lißewski, Luigi Memo, Mythily Ganapathi, Lorenzo Stella, Francesca Piceci-Sparascio, Julia Brinkmann, Francesca Clementina Radio, Dennis Bartholomew, Bruno Dallapiccola, Katelyn Payne, Emanuele Bellacchio, Federica Tamburrino, Alessandro De Luca, Sara Álvarez, Marco Tartaglia, Mónica Martínez-García, Giuseppe Zampino, Ingrid M. Wentzensen, Laura Mazzanti, Giovanna Carpentieri, Ronald R. Waclaw, Alberto Fernández-Jaén, Martin Zenker, Francesca Pantaleoni, Serena Cecchetti, Cesare Rossi, Ashita Dave-Wala, Quinten Waisfisz, Stefania Boni, Gianfranco Bocchinfuso

Publikováno v: Am J Hum Genet
Motta, M, Pannone, L, Pantaleoni, F, Bocchinfuso, G, Radio, F C, Cecchetti, S, Ciolfi, A, Di Rocco, M, Elting, M W, Brilstra, E H, Boni, S, Mazzanti, L, Tamburrino, F, Walsh, L, Payne, K, Fernández-Jaén, A, Ganapathi, M, Chung, W K, Grange, D K, Dave-Wala, A, Reshmi, S C, Bartholomew, D W, Mouhlas, D, Carpentieri, G, Bruselles, A, Pizzi, S, Bellacchio, E, Piceci-Sparascio, F, Lißewski, C, Brinkmann, J, Waclaw, R R, Waisfisz, Q, van Gassen, K, Wentzensen, I M, Morrow, M M, Álvarez, S, Martínez-García, M, De Luca, A, Memo, L, Zampino, G, Rossi, C, Seri, M, Gelb, B D, Zenker, M, Dallapiccola, B, Stella, L, Prada, C E, Martinelli, S, Flex, E & Tartaglia, M 2020, ' Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ', American journal of human genetics, vol. 107, no. 3, pp. 499-513 . https://doi.org/10.1016/j.ajhg.2020.06.018
American journal of human genetics, 107(3), 499-513. Cell Press

Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. Aberrant signaling through this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7330d27e2c464d18e0c8f7741f10d5c
https://hdl.handle.net/11268/10650

37. Prenatal diagnosis of an unusual mosaic homozygous t(2;3) balanced translocation

Autor: Donald Roman, Jeffrey Wobser, Hannah Kennedy, Michael Smith, Marilena Melas, Danielle Mouhlas, Mollie Haughn, Elizabeth Hamelberg, Shalini C. Reshmi, Adam Witkoff, Matthew Meleski, Sayaka Hashimoto, Theodora Jacobson, Carol Deeg, Ruthann B. Pfau, Matthew J. Schultz

Publikováno v: Cancer Genetics. :S13

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4250387716c041a384655c7be8d69881
https://doi.org/10.1016/j.cancergen.2021.01.048

Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital

Autor: Katherine E. Miller, Danielle Mouhlas, Yungui Huang, Matthew Pastore, Simon Lin, Theodora Jacobson, Sayaka Hashimoto, Rajeswari Swaminathan

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 9 (2018)

The adoption rate of genome sequencing for clinical diagnostics has been steadily increasing leading to the possibility of improvement in diagnostic yields. Although laboratories generate a summary clinical report, sharing raw genomic data with healt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa145a09bbe2d746c2771e34814dc5e