Silk microspheres for encapsulation and controlled release
Wang, Xiaoqin, Wenk, Esther, Matsumoto, Akira, Meinel, Lorenz, Li, Chumei, Kaplan, David L.
Published in Journal of controlled release (26.02.2007)
Published in Journal of controlled release (26.02.2007)
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.
Published in Nature communications (23.07.2020)
Published in Nature communications (23.07.2020)
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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Chen, Chun-An, Bosch, Daniëlle G.M., Cho, Megan T., Rosenfeld, Jill A., Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G., Elmslie, Frances, Douglas, Ganka, Boonstra, F. Nienke, Millan, Francisca, Cremers, Frans P.M., McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K., Niyazov, Dmitriy, Pascual, Juan M., Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M., de Vries, Bert B.A., Schaaf, Christian
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
SANDESH CHAKRAVARTHY SREENATH NAGAMANI, EREZ, Ayelet, LALANI, Seema R, STANKIEWICZ, Pawel, SUTTON, V. Reid, SAU WAI CHEUNG, SHEN, Joseph, CHUMEI LI, ROEDER, Elizabeth, COX, Sarah, KARAVITI, Lefkothea, PEARSON, Margret, KANG, Sung-Hae L, SAHOO, Trilochan
Published in European journal of human genetics : EJHG (01.03.2010)
Published in European journal of human genetics : EJHG (01.03.2010)
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Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
Brady, Lauren, Ballantyne, Mark, Duck, John, Fisker, Thomas, Kleefman, Ryan, Li, Chumei, Nfonsam, Landry, Schultz, Lee‐Anne, Tarnopolsky, Mark, McCready, Elizabeth
Published in Molecular genetics & genomic medicine (01.03.2023)
Published in Molecular genetics & genomic medicine (01.03.2023)
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The Cardiac Myosin Binding Protein C Arg502Trp Mutation A Common Cause of Hypertrophic Cardiomyopathy
SALTZMAN, Adam J, MANCINI-DINARDO, Debora, GORHAM, Joshua, MCDONOUGH, Barbara, SPARKS, Elizabeth, SEIDMAN, J. G, SEIDMAN, Christine E, REHM, Heidi L, CHUMEI LI, CHUNG, Wendy K, HO, Carolyn Y, HURST, Stephanie, WYNN, Julia, CARE, Melanie, HAMILTON, Robert M, SEIDMAN, Gregor W
Published in Circulation research (14.05.2010)
Published in Circulation research (14.05.2010)
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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
Friedrich, Katrin, Lee, Lin, Leistritz, Dru F, Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M, Eyman, Daniel K, Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J, Kets, Carolien M, Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C, Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F, Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M, Kubisch, Christian, Oshima, Junko
Published in Human genetics (01.07.2010)
Published in Human genetics (01.07.2010)
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Severe intellectual disability and autistic features associated with microduplication 2q23.1
CHUNG, Brian Hy, MULLEGAMA, Sureni, JAMES STAVROPOULOS, D, ELSEA, Sarah H, MENDOZA-LONDONO, Roberto, MARSHALL, Christian R, LIONEL, Anath C, WEKSBERG, Rosanna, DUPUIS, Lucie, BRICK, Lauren, CHUMEI LI, SCHERER, Stephen W, ARADHYA, Swaroop
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
Slavotinek, Anne M, Baranzini, Sergio E, Schanze, Denny, Labelle-Dumais, Cassandre, Short, Kieran M, Chao, Ryan, Yahyavi, Mani, Bijlsma, Emilia K, Chu, Catherine, Musone, Stacey, Wheatley, Ashleigh, Kwok, Pui-Yan, Marles, Sandra, Fryns, Jean-Pierre, Maga, A Murat, Hassan, Mohamed G, Gould, Douglas B, Madireddy, Lohith, Li, Chumei, Cox, Timothy C, Smyth, Ian, Chudley, Albert E, Zenker, Martin
Published in Journal of medical genetics (01.06.2011)
Published in Journal of medical genetics (01.06.2011)
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Prenatal screening for fetal aneuploidy
Summers, Anne M, Langlois, Sylvie, Wyatt, Phil, Douglas Wilson, R
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
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A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
Li, Chumei, Di Pierro, Elena, Brancaleoni, Valentina, Cappellini, Maria Domenica, Steensma, David P.
Published in Clinical chemistry and laboratory medicine (01.01.2009)
Published in Clinical chemistry and laboratory medicine (01.01.2009)
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Myelination in the absence of myelin-associated glycoprotein
Li, Chumei, Tropak, Michael B, Gerlai, Robert, Clapoff, Susan, Abramow-Newerly, Wanda, Trapp, Bruce, Peterson, Alan, Roder, John
Published in Nature (London) (30.06.1994)
Published in Nature (London) (30.06.1994)
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