A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
Rosenfeld, Jill A, Stephens, Lindsey E, Coppinger, Justine, Ballif, Blake C, Hoo, Joe J, French, Beatrice N, Banks, Valerie C, Smith, Wendy E, Manchester, David, Tsai, Anne Chun-Hui, Merrion, Katrina, Mendoza-Londono, Roberto, Dupuis, Lucie, Schultz, Roger, Torchia, Beth, Sahoo, Trilochan, Bejjani, Bassem, Weaver, David D, Shaffer, Lisa G
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Journal Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
Rosenfeld, Jill A, Stephens, Lindsey E, Coppinger, Justine, Ballif, Blake C, Hoo, Joe J, French, Beatrice N, Banks, Valerie C, Smith, Wendy E, Manchester, David, Tsai, Anne Chun-Hui, Merrion, Katrina, Mendoza-Londono, Roberto, Dupuis, Lucie, Schultz, Roger, Torchia, Beth, Sahoo, Trilochan, Bejjani, Bassem, Weaver, David D, Shaffer, Lisa G
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Journal Article
FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing
Clark, Robin Dawn, Graham, John M, Friez, Michael J, Hoo, Joe J, Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B, Raymond, F Lucy, Rogers, R Curtis, Schwartz, Charles E, Battaglia, Agatino, Lyons, Michael J, Stevenson, Roger E
Published in Genetics in medicine (01.11.2009)
Published in Genetics in medicine (01.11.2009)
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Journal Article
Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay
Hoo, Joe J., Shrimpton, Antony E.
Published in American journal of medical genetics. Part A (15.02.2008)
Published in American journal of medical genetics. Part A (15.02.2008)
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Journal Article
"Zwilling" versus "Tai Chi" configuration of double-sized ring chromosome
Hoo, Joe J., Stein, Constance K.
Published in American journal of medical genetics. Part A (15.04.2007)
Published in American journal of medical genetics. Part A (15.04.2007)
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Journal Article
Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit
Shrimpton, Antony E., Jensen, Kimberly A., Hoo, Joe J.
Published in American journal of medical genetics. Part A (15.02.2006)
Published in American journal of medical genetics. Part A (15.02.2006)
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Journal Article
Familial hyper- and hypopigmentation with age-related pattern change
Hoo, Joe J., Shrimpton, Antony E.
Published in American journal of medical genetics. Part A (15.01.2005)
Published in American journal of medical genetics. Part A (15.01.2005)
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Journal Article
Is brachydactyly type Ballard a variant of brachydactyly type E?
Jensen, Kimberly, Hoo, Joe J.
Published in American journal of medical genetics. Part A (15.08.2004)
Published in American journal of medical genetics. Part A (15.08.2004)
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Journal Article
Two sibs with brachyolmia type Hobaek: Five year follow‐up through puberty
Hoo, Joe J., Oliphant, Michael
Published in American journal of medical genetics. Part A (01.01.2003)
Published in American journal of medical genetics. Part A (01.01.2003)
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Journal Article
Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion
Shrimpton, Antony E., Kessler, John A., Shaffer, Lisa G., Stack, Cindy, Jalali, Ali, Little, Robert, Goldstein, Joshua, Angle, Brad, Chary, Ajit, Coppinger, Justine, Mathison, David J., Khan, Sophia, Poznanski, Andrew K., Dobyns, William B., Craig, David W., Hoo, Joe J., Sarco, Dean, Bassuk, Alexander G.
Published in Journal of pediatric neurology (01.09.2009)
Published in Journal of pediatric neurology (01.09.2009)
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Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype
Shrimpton, AE, Braddock, BR, Thomson, LL, Stein, CK, Hoo, JJ
Published in Clinical genetics (01.12.2004)
Published in Clinical genetics (01.12.2004)
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Journal Article
Deletions flanked by breakpoints 3 and 4 on 15p13 may contribute to abnormal phenotypes
ROSENFELD, Jill A, STEPHENS, Lindsey E, MERRION, Katrina, MENDOZA-LONDONO, Roberto, DUPUIS, Lucie, SCHULTZ, Roger, TORCHIA, Beth, SAHOO, Trilochan, BEJJANI, Bassem, WEAVER, David D, SHAFFER, Lisa G, COPPINGER, Justine, BALLIF, Blake C, HOO, Joe J, FRENCH, Beatrice N, BANKS, Valerie C, SMITH, Wendy E, MANCHESTER, David, TSAI, Anne Chun-Hui
Published in European journal of human genetics : EJHG (2011)
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Published in European journal of human genetics : EJHG (2011)
Journal Article
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Published in Nature genetics (14.02.2010)
Published in Nature genetics (14.02.2010)
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Journal Article
Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin
Hoo, J J, Chao, M, Szego, K, Rauer, M, Echiverri, S C, Harris, C
Published in American journal of medical genetics (25.09.1995)
Published in American journal of medical genetics (25.09.1995)
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