An evolutionary genomic approach to identify genes involved in human birth timing
Plunkett, Jevon, Doniger, Scott, Orabona, Guilherme, Morgan, Thomas, Haataja, Ritva, Hallman, Mikko, Puttonen, Hilkka, Menon, Ramkumar, Kuczynski, Edward, Norwitz, Errol, Snegovskikh, Victoria, Palotie, Aarno, Peltonen, Leena, Fellman, Vineta, DeFranco, Emily A, Chaudhari, Bimal P, McGregor, Tracy L, McElroy, Jude J, Oetjens, Matthew T, Teramo, Kari, Borecki, Ingrid, Fay, Justin, Muglia, Louis
Published in PLoS genetics (01.04.2011)
Published in PLoS genetics (01.04.2011)
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Journal Article
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
Metzler, Marina, Burns, William, Mitchell, Carly, Napolitano, Stephanie, Chaudhari, Bimal P
Published in Frontiers in pediatrics (13.02.2023)
Published in Frontiers in pediatrics (13.02.2023)
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Journal Article
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis
Haataja, Ritva, Karjalainen, Minna K, Luukkonen, Aino, Teramo, Kari, Puttonen, Hilkka, Ojaniemi, Marja, Varilo, Teppo, Chaudhari, Bimal P, Plunkett, Jevon, Murray, Jeffrey C, McCarroll, Steven A, Peltonen, Leena, Muglia, Louis J, Palotie, Aarno, Hallman, Mikko
Published in PLoS genetics (01.02.2011)
Published in PLoS genetics (01.02.2011)
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Journal Article
Genetic testing for diffuse lung diseases in children
Hamvas, Aaron, Chaudhari, Bimal P., Nogee, Lawrence M.
Published in Pediatric pulmonology (01.09.2024)
Published in Pediatric pulmonology (01.09.2024)
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Journal Article
Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”
Wojcik, Monica H., Fishler, Kristen P., Chaudhari, Bimal P.
Published in Human genetics (01.02.2023)
Published in Human genetics (01.02.2023)
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Journal Article
Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders
Burns, William, Chaudhari, Bimal P., Haffner, Darrah N.
Published in Seminars in pediatric neurology (01.07.2022)
Published in Seminars in pediatric neurology (01.07.2022)
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Journal Article
A pediatric perspective on genomics and prevention in the twenty-first century
Chaudhari, Bimal P., Manickam, Kandamurugu, McBride, Kim L.
Published in Pediatric research (01.01.2020)
Published in Pediatric research (01.01.2020)
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Journal Article
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation
Schuetz, Robert J., Antoniou, Austin A., Lammi, Grant E., Gordon, David M., Kuck, Harkness C., Chaudhari, Bimal P., White, Peter
Published in Human mutation (29.04.2024)
Published in Human mutation (29.04.2024)
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Journal Article
Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Wojcik, Monica H., Callahan, Katharine P., Antoniou, Austin, del Rosario, Maya C., Brunelli, Luca, ElHassan, Nahed O., Gogcu, Semsa, Murthy, Karna, Rumpel, Jennifer A., Wambach, Jennifer A., Suhrie, Kristen, Fishler, Kristen, Chaudhari, Bimal P.
Published in Genetics in medicine (01.10.2023)
Published in Genetics in medicine (01.10.2023)
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Journal Article
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2022)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2022)
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Journal Article
ARF1-related disorder: phenotypic and molecular spectrum
de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan S, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle L, Bryant, Emily M, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen M, Friedman, Jennifer R, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn N, Owens, Joshua W, Husami, Ammar, Chaudhari, Bimal P, Stone, Brandon S, Burns, Katie, Li, Rachel, de Lange, Iris M, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf W, Trimouille, Aurélien
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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Journal Article
A Decade’s Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
Mathew, Mariam T., Antoniou, Austin, Ramesh, Naveen, Hu, Min, Gaither, Jeffrey, Mouhlas, Danielle, Hashimoto, Sayaka, Humphrey, Maggie, Matthews, Theodora, Hunter, Jesse M., Reshmi, Shalini, Schultz, Matthew, Lee, Kristy, Pfau, Ruthann, Cottrell, Catherine, McBride, Kim L., Navin, Nicholas E., Chaudhari, Bimal P., Leung, Marco L.
Published in The Journal of molecular diagnostics : JMD (01.09.2022)
Published in The Journal of molecular diagnostics : JMD (01.09.2022)
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Journal Article
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
Published in Frontiers in genetics (14.06.2021)
Published in Frontiers in genetics (14.06.2021)
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Journal Article
Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth
Plunkett, Jevon, Doniger, Scott, Morgan, Thomas, Haataja, Ritva, Hallman, Mikko, Puttonen, Hilkka, Menon, Ramkumar, Kuczynski, Edward, Norwitz, Errol, Snegovskikh, Victoria, Palotie, Aarno, Peltonen, Leena, Fellman, Vineta, DeFranco, Emily A, Chaudhari, Bimal P, Oates, John, Boutaud, Olivier, McGregor, Tracy L, McElroy, Jude J, Teramo, Kari, Borecki, Ingrid, Fay, Justin C, Muglia, Louis J
Published in BMC medical genomics (24.12.2010)
Published in BMC medical genomics (24.12.2010)
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