Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
Bi, Weimin, Probst, Frank J, Wiszniewska, Joanna, Plunkett, Katie, Roney, Erin K, Carter, Brian S, Williams, Misti D, Stankiewicz, Pawel, Patel, Ankita, Stevens, Cathy A, Lupski, James R, Cheung, Sau Wai
Published in Journal of medical genetics (01.11.2012)
Published in Journal of medical genetics (01.11.2012)
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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
Stewart, Douglas R, Brems, Hilde, Gomes, Alicia G, Ruppert, Sarah L, Callens, Tom, Williams, Jennifer, Claes, Kathleen, Bober, Michael B, Hachen, Rachel, Kaban, Leonard B, Li, Hua, Lin, Angela, McDonald, Marie, Melancon, Serge, Ortenberg, June, Radtke, Heather B, Samson, Ignace, Saul, Robert A, Shen, Joseph, Siqveland, Elizabeth, Toler, Tomi L, van Maarle, Merel, Wallace, Margaret, Williams, Misti, Legius, Eric, Messiaen, Ludwine
Published in Genetics in medicine (01.06.2014)
Published in Genetics in medicine (01.06.2014)
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TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin P., Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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MECP2 duplications in six patients with complex sex chromosome rearrangements
BREMAN, Amy M, RAMOCKI, Melissa B, KANG, Sung-Hae L, WILLIAMS, Misti, FREEDENBERG, Debra, PATEL, Ankita, BADER, Patricia I, WAI CHEUNG, Sau
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
DHARMADHIKARI, Avinash V, KANG, Sung-Hae L, VINSON, Sherry S, WILFONG, Angus A, REIMSCHISEL, Tyler E, CRAIGEN, William J, PATEL, Ankita, WEIMIN BI, LUPSKI, James R, BELMONT, John, SAU WAI CHEUNG, STANKIEWICZ, Pawel, SZAFRANSKI, Przemyslaw, PERSON, Richard E, SAMPATH, Srirangan, PRAKASH, Siddharth K, BADER, Patricia I, PHILLIPS, John A, HANNIG, Vickie, WILLIAMS, Misti
Published in Human molecular genetics (01.08.2012)
Published in Human molecular genetics (01.08.2012)
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Erratum: MECP2 duplications in six patients with complex sex chromosome rearrangements
Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Published in European journal of human genetics : EJHG (22.09.2011)
Published in European journal of human genetics : EJHG (22.09.2011)
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Journal Article
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin, Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
MECP2 duplications in six patients with complex sex chromosome rearrangements
Breman, Amy M, Ramocki, Melissa B, Kang, Sung-hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Published in European journal of human genetics : EJHG (01.10.2011)
Published in European journal of human genetics : EJHG (01.10.2011)
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Journal Article