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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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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p53 is required for brown adipogenic differentiation and has a protective role against diet-induced obesity
Molchadsky, A, Ezra, O, Amendola, P G, Krantz, D, Kogan-Sakin, I, Buganim, Y, Rivlin, N, Goldfinger, N, Folgiero, V, Falcioni, R, Sarig, R, Rotter, V
Published in Cell death and differentiation (01.05.2013)
Published in Cell death and differentiation (01.05.2013)
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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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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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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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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C, Noon, Sarah, Dulik, Matthew C, Rajagopalan, Ramakrishnan, Venditti, Charles P, Gripp, Karen, Samanich, Joy, Zackai, Elaine H, Deardorff, Matthew A, Clark, Dinah, Allen, Julian L, Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
Weiss, Felix D, Calderon, Lesly, Wang, Yi-Fang, Georgieva, Radina, Guo, Ya, Cvetesic, Nevena, Kaur, Maninder, Dharmalingam, Gopuraja, Krantz, Ian D, Lenhard, Boris, Fisher, Amanda G, Merkenschlager, Matthias
Published in Nature communications (18.05.2021)
Published in Nature communications (18.05.2021)
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Cell‐free fetal DNA screening in the USA: a cost analysis of screening strategies
Evans, M. I., Sonek, J. D., Hallahan, T. W., Krantz, D. A.
Published in Ultrasound in obstetrics & gynecology (01.01.2015)
Published in Ultrasound in obstetrics & gynecology (01.01.2015)
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NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR
Yuen, Kobe C., Xu, Baoshan, Krantz, Ian D., Gerton, Jennifer L.
Published in Cell reports (Cambridge) (05.01.2016)
Published in Cell reports (Cambridge) (05.01.2016)
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A simple assay to study social behavior in Drosophila: measurement of social space within a group
Simon, A F, Chou, M-T, Salazar, E D, Nicholson, T, Saini, N, Metchev, S, Krantz, D E
Published in Genes, brain and behavior (01.03.2012)
Published in Genes, brain and behavior (01.03.2012)
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Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies
Wang, Kai, Dickson, Samuel P., Stolle, Catherine A., Krantz, Ian D., Goldstein, David B., Hakonarson, Hakon
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline
Cheng, Keren, Seita, Yasunari, Whelan, Eoin C., Yokomizo, Ryo, Hwang, Young Sun, Rotolo, Antonia, Krantz, Ian D., Ginsberg, Jill P., Kolon, Thomas F., Lal, Priti, Luo, Xunda, Pierorazio, Phillip M., Linn, Rebecca L., Ryeom, Sandra, Sasaki, Kotaro
Published in Cell reports (Cambridge) (25.06.2024)
Published in Cell reports (Cambridge) (25.06.2024)
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AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss
Guan, Qiaoning, Balciuniene, Jorune, Cao, Kajia, Fan, Zhiqian, Biswas, Sawona, Wilkens, Alisha, Gallo, Daniel J, Bedoukian, Emma, Tarpinian, Jennifer, Jayaraman, Pushkala, Sarmady, Mahdi, Dulik, Matthew, Santani, Avni, Spinner, Nancy, Abou Tayoun, Ahmad N, Krantz, Ian D, Conlin, Laura K, Luo, Minjie
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients
Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases
Wilkens, Alisha, Liu, Hongbin, Park, Kristen, Campbell, Lindsey B., Jackson, Marie, Kostanecka, Anna, Pipan, Mary, Izumi, Kosuke, Pallister, Phillip, Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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