Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry
Wilkinson, James D., MD, MPH, Lowe, April M., MS, Salbert, Bonnie A., DO, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Connuck, David M., MD, Messere, Jane E., RN, Lipshultz, Steven E., MD
Published in The American heart journal (01.09.2012)
Published in The American heart journal (01.09.2012)
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Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry
Connuck, David M., MD, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Lowe, April M., MS, Wilkinson, James D., MD, MPH, Orav, E. John, PhD, Cuniberti, Leigha, BA, Salbert, Bonnie A., DO, Lipshultz, Steven E., MD
Published in The American heart journal (01.06.2008)
Published in The American heart journal (01.06.2008)
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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Högel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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The different clinical facets of SYN1 -related neurodevelopmental disorders
Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel
Published in Frontiers in cell and developmental biology (08.12.2022)
Published in Frontiers in cell and developmental biology (08.12.2022)
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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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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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The prevalence and phenotypic range associated with biallelic PKDCC variants
Pagnamenta, Alistair T., Belles, Rebecca S., Salbert, Bonnie Anne, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Santos, Francis Jeshira Reynoso, Caffo, Alesky, Ferla, Matteo, Banos‐Pinero, Benito, Pawliczak, Karolina, Makvand, Mina, Najmabadi, Hossein, Maroofian, Reza, Lester, Tracy, Yanez‐Felix, Ana Lucia, Villarroel‐Cortes, Camilo E., Xia, Fan, Al Fayez, Khowla, Al Hashem, Amal, Shears, Deborah, Irving, Melita, Offiah, Amaka C., Kariminejad, Ariana, Taylor, Jenny C.
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Journal Article
Deletion 1 7q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
MORENO-DE-LUCA, Daniel, CONSORTIUM, Sgene, UHAS, Kim, WEIK, Luann, GUY, Lisa, CARE, Melanie E, MOREL, Chantal F, BONI, Charlotte, SALBERT, Bonnie Anne, CHANDRAREDDY, Ashadeep, DEMMER, Laurie A, CHOW, Eva W. C, MULLE, Jennifer G, SURTI, Urvashi, ARADHYA, Swaroop, PICKERING, Diane L, GOLDEN, Denae M, SANDER, Warren G, ASTON, Emily, BROTHMAN, Arthur R, GLIEM, Troy J, THORLAND, Erik C, ACKLEY, Todd, KAMINSKY, Erin B, IYER, Ram, SHUWEN HUANG, BARBER, John C, CROLLA, John A, WARREN, Stephen T, MARTIN, Christa L, LEDBETTER, David H, SANDERS, Stephan J, STAR, Gene, MYERS, Scott M, ADAM, Margaret P, PAKULA, Amy T, EISENHAUER, Nancy J
Published in American journal of human genetics (2010)
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Published in American journal of human genetics (2010)
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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Dysmorphic and anthropometric outcomes in 6-year-old prenatally cocaine-exposed children
Minnes, Sonia, Robin, Nathaniel H., Alt, April A., Kirchner, H. Lester, Satayathum, Sudtida, Salbert, Bonnie Anne, Ellison, Laurie, Singer, Lynn T.
Published in Neurotoxicology and teratology (01.01.2006)
Published in Neurotoxicology and teratology (01.01.2006)
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1164-126 Characteristics of Duchenne and Becker muscular dystrophy patients in the pediatric cardiomyopathy registry
Connuck, David, Sleeper, Lynn, Towbin, Jeffrey, Colan, Steven, Cox, Gerald, Cuniberti, Leigha, Orav, John, Anne Salbert, Bonnie, Lipshultz, Steven
Published in Journal of the American College of Cardiology (03.03.2004)
Published in Journal of the American College of Cardiology (03.03.2004)
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Packed red cell transfusion does not compromise chromosome analysis in newborns
Kulharya, Anita S., Salbert, Bonnie A., Norris, Karen N., Cook, Lloyd, Larrison, Patricia J., Flannery, David B.
Published in Genetics in medicine (01.07.2001)
Published in Genetics in medicine (01.07.2001)
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Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers
Reynolds, J E, Arnos, K S, Landa, B, Stevens, C A, Salbert, B A, Wright, L, Duke, B, Hunt, W, Marazita, M L, Ploughman, L
Published in Human heredity (01.09.1995)
Published in Human heredity (01.09.1995)
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