Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder
Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan
Published in Molecular cell (17.09.2015)
Published in Molecular cell (17.09.2015)
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A cohesin-independent role for NIPBL at promoters provides insights in CdLS
Zuin, Jessica, Franke, Vedran, van Ijcken, Wilfred F J, van der Sloot, Antoine, Krantz, Ian D, van der Reijden, Michael I J A, Nakato, Ryuichiro, Lenhard, Boris, Wendt, Kerstin S
Published in PLoS genetics (01.02.2014)
Published in PLoS genetics (01.02.2014)
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Rare variants create synthetic genome-wide associations
Dickson, Samuel P, Wang, Kai, Krantz, Ian, Hakonarson, Hakon, Goldstein, David B
Published in PLoS biology (01.01.2010)
Published in PLoS biology (01.01.2010)
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Pallister-Killian syndrome
Izumi, Kosuke, Krantz, Ian D.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2014)
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Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
Pallotta, Maria M, Di Nardo, Maddalena, Sarogni, Patrizia, Krantz, Ian D, Musio, Antonio
Published in Human molecular genetics (19.05.2022)
Published in Human molecular genetics (19.05.2022)
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Transcriptional dysregulation in NIPBL and cohesin mutant human cells
Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A, Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B, Vega, Hugo, Jackson, Laird G, Shirahige, Katsuhiko, Krantz, Ian D
Published in PLoS biology (26.05.2009)
Published in PLoS biology (26.05.2009)
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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.
Published in Human molecular genetics (01.04.2010)
Published in Human molecular genetics (01.04.2010)
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Krantz, Ian D, Medne, Livija, Weatherly, Jamila M, Wild, K Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P, Abdul-Rahman, Omar, Euteneuer, Joshua C, Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J, Vargas-Shiraishi, Ofelia M, Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions, Wegner, Daniel J, Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J, Pivnick, Eniko K, Ward, Jewell C, Talati, Ajay, Brown, Chester W, Belmont, John W, Ortega, Julia L, Robinson, Keisha D, Brocklehurst, W Tyler, Perry, Denise L, Ajay, Subramanian S, Hagelstrom, R Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J
Published in JAMA pediatrics (01.12.2021)
Published in JAMA pediatrics (01.12.2021)
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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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RAD21 Mutations Cause a Human Cohesinopathy
Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Berg, Jonathan S., Brothers, Kyle, Clayton, Ellen W., Chung, Wendy, Evans, Barbara J., Evans, James P., Fullerton, Stephanie M., Gallego, Carlos J., Garrison, Nanibaa’ A., Gray, Stacy W., Holm, Ingrid A., Kullo, Iftikhar J., Lehmann, Lisa Soleymani, McCarty, Cathy, Prows, Cynthia A., Rehm, Heidi L., Sharp, Richard R., Salama, Joseph, Sanderson, Saskia, Wolf, Wendy A., Myers, Melanie, Vinks, Sander, Crosslin, David, Leppig, Kathy, Wicklund, Cathy, Chute, Christopher, Lynch, John, De Andrade, Mariza, Heit, John, Brilliant, Murray, Kitchner, Terrie, Ritchie, Marylyn, Persell, Stephen, Rasmussen-Torvik, Laura, McGregor, Tracy, Antommaria, Armand, Chiavacci, Rosetta, Ledbetter, David, Williams, Janet, Hartzler, Andrea, Vitek, Carolyn R. Rohrer, Frost, Norm, Ferryman, Kadija, Horowitz, Carol, Zinberg, Randi, Pan, Vivian, Long, Rochelle, Ramos, Erin, Odgis, Jackie, Wise, Anastasia, Hull, Sara, Gitlin, Jonathan, Green, Robert, Metterville, Danielle, McGuire, Amy, Kong, Sek Won, Trinidad, Sue, Veenstra, David, Roche, Myra, Skinner, Debra, Raspberry, Kelly, O’Daniel, Julianne, Parsons, Will, Eng, Christine, Hilsenbeck, Susan, Karavite, Dean, Conlin, Laura, Spinner, Nancy, Krantz, Ian, Falk, Marni, Santani, Avni, Dechene, Elizabeth, Bernhardt, Barbara, Schuetze, Scott, Everett, Jessica, Gornick, Michele Caroline, Wilfond, Ben, Tabor, Holly, Lemke, Amy A., Goddard, Katrina, East, Kelly, Barsh, Greg, Koenig, Barbara, Van Allen, Eliezer, Garber, Judy, Zawati, Ma’n, Lewis, Michelle, Savage, Sarah, Smith, Maureen, Roychowdhury, Sameek, Anan, Charlisse Caga, Hindorff, Lucia, Hutter, Carolyn, King, Rosalind, Li, Rongling, Lockhart, Nicole, McEwen, Jean, Scholes, Derek, Sun, Kathie, Burke, Wylie
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Miller, David T., Adam, Margaret P., Aradhya, Swaroop, Biesecker, Leslie G., Brothman, Arthur R., Carter, Nigel P., Church, Deanna M., Crolla, John A., Eichler, Evan E., Epstein, Charles J., Faucett, W. Andrew, Feuk, Lars, Friedman, Jan M., Hamosh, Ada, Jackson, Laird, Kaminsky, Erin B., Kok, Klaas, Krantz, Ian D., Kuhn, Robert M., Lee, Charles, Ostell, James M., Rosenberg, Carla, Scherer, Stephen W., Spinner, Nancy B., Stavropoulos, Dimitri J., Tepperberg, James H., Thorland, Erik C., Vermeesch, Joris R., Waggoner, Darrel J., Watson, Michael S., Martin, Christa Lese, Ledbetter, David H.
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway
McDaniell, Ryan, Warthen, Daniel M., Sanchez-Lara, Pedro A., Pai, Athma, Krantz, Ian D., Piccoli, David A., Spinner, Nancy B.
Published in American journal of human genetics (01.07.2006)
Published in American journal of human genetics (01.07.2006)
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