22: A case of partial trisomy 13 not detected on prenatal cfDNA screen

Authors: Laura Bryant, Mari Mori, Bimal P. Chaudhari, Michael Zinmeister, Nathan Johnson, Elizabeth Hamelberg, Kimberly Wetherell, Don Roman, Jeffrey Wobser, Joon Kim, Matthew Meleski, Veronica Reher, Shalini C. Reshmi, Jason P. Garee, Jesse Hunter, Catherine Cottrell, Marco Leung, Taylor Porter, Theodora Matthews, Yassmine Akkari

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 101939- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010859; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/ee646a6f278f45d693cca17673db9d11

CNVoyant a machine learning framework for accurate and explainable copy number variant classification

Authors: Robert J. Schuetz, Defne Ceyhan, Austin A. Antoniou, Bimal P. Chaudhari, Peter White

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8fb3cd60ef4d49b58bc4f2ced9dc92ba

A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD—A call to focus on the basics while utilizing advanced new therapies

Authors: Marina Metzler, William Burns, Carly Mitchell, Stephanie Napolitano, Bimal P. Chaudhari

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: necrotizing enterocolitis, triheptanoin, preterm, human milk, LCHADD, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1081802/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/5d90822830a346a0828912e249cccec2

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Authors: Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney

Source: Cell Genomics, Vol 1, Iss 2, Pp 100029- (2021)

Subject Terms: data sharing, data access, precision medicine, learning health system, genomics, standards, Genetics, QH426-470, Internal medicine, RC31-1245

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666979X21000367; https://doaj.org/toc/2666-979X

Access URL: https://doaj.org/article/8843ca96b8394774b7bfa2e49aa0584a

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Authors: Andrew D. Franklin, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: polymerase gamma, mitochondria DNA depletion, pulmonary hypertension, whole exome sequencing, case report, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.664278/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0dae5d94c5e7497eb9f33cc431e91ce6

What About Proxies?

Authors: Bimal P. Chaudhari¹, Grodin, Michael A.¹

Source: Health Affairs. Nov/Dec2005, Vol. 24 Issue 6, p1686-1687. 2p.

Subject Terms: *LETTERS to the editor, *TERMINAL care

An evolutionary genomic approach to identify genes involved in human birth timing.

Authors: Jevon Plunkett, Scott Doniger, Guilherme Orabona, Thomas Morgan, Ritva Haataja, Mikko Hallman, Hilkka Puttonen, Ramkumar Menon, Edward Kuczynski, Errol Norwitz, Victoria Snegovskikh, Aarno Palotie, Leena Peltonen, Vineta Fellman, Emily A DeFranco, Bimal P Chaudhari, Tracy L McGregor, Jude J McElroy, Matthew T Oetjens, Kari Teramo, Ingrid Borecki, Justin Fay, Louis Muglia

Source: PLoS Genetics, Vol 7, Iss 4, p e1001365 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3077368?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/2c6d010dbe34471596d2b451f42ee54d

Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.

Authors: Ritva Haataja, Minna K Karjalainen, Aino Luukkonen, Kari Teramo, Hilkka Puttonen, Marja Ojaniemi, Teppo Varilo, Bimal P Chaudhari, Jevon Plunkett, Jeffrey C Murray, Steven A McCarroll, Leena Peltonen, Louis J Muglia, Aarno Palotie, Mikko Hallman

Source: PLoS Genetics, Vol 7, Iss 2, p e1001293 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21304894/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/e7b39d52104847748ac6818679689356