Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

Yazar: Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Yayımlandı Mol Cytogenet (2021)

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Yazar: Davids, Mariska, Menezes, Minal, Guo, Yiran, McLean, Scott D., Hakonarson, Hakon, Collins, Felicity, Worgan, Lisa, Billington, Charles J., Maric, Irina, Littlejohn, Rebecca Okashah, Adams, David R., Tifft, Cynthia J., Gahl, William A, Wolfe, Lynne A, Christodoulou, John, Malicdan, May Christine V
Yayımlandı Mol Genet Metab (2020)

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries

Yazar: Benjamin, Renata H., Yu, Xiao, Sanchez, Maria Luisa Navarro, Chen, Han, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Swartz, Michael D., Scheuerle, Angela E., Scott, Daryl A., Northrup, Hope, Schaaf, Christian P., Ray, Joseph W., McLean, Scott D., Lupo, Philip J., Agopian, A. J.
Yayımlandı Birth Defects Res (2019)

Patterns of co-occurring birth defects among infants with hypospadias

Yazar: Ludorf, Katherine L., Benjamin, Renata H., Sanchez, Maria Luisa Navarro, McLean, Scott D., Northrup, Hope, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Scott, Daryl A., Schaaf, Christian P., Ray, Joseph W., Oluwafemi, Omobola, Chen, Han, Swartz, Michael D., Lupo, Philip J., Agopian, A.J.
Yayımlandı J Pediatr Urol (2020)

Patterns of congenital anomalies among individuals with trisomy 13 in Texas

Yazar: Diaz, Diego, Benjamin, Renata H., Sanchez, Maria Luisa Navarro, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Chen, Han, Scheuerle, Angela E., Schaaf, Christian P., Scott, Daryl A., Northrup, Hope, Ray, Joseph W., McLean, Scott D., Swartz, Michael D., Ludorf, Katherine L., Lupo, Philip J., Agopian, A. J.
Yayımlandı Am J Med Genet A (2021)

A Comprehensive assessment of co-occurring birth defects among infants with non-syndromic Anophthalmia or Microphthalmia

Yazar: Schraw, Jeremy M., Benjamin, Renata H., Scott, Daryl A., Brooks, Brian P., Hufnagel, Robert B., McLean, Scott D., Northrup, Hope, Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Schaaf, Christian P., Ray, Joseph W., Chen, Han, Swartz, Michael D., Mitchell, Laura E., Agopian, A.J., Lupo, Philip J.
Yayımlandı Ophthalmic Epidemiol (2020)

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele

Yazar: Oluwafemi, Omobola O., Benjamin, Renata H., Sanchez, Maria Luisa Navarro, Scheuerle, Angela E., Schaaf, Christian P., Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Swartz, Michael D., Scott, Daryl A., Northrup, Hope, Ray, Joseph W., McLean, Scott D., Ludorf, Katherine L., Chen, Han, Lupo, Philip J., Agopian, A.J.
Yayımlandı Am J Med Genet A (2020)

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Yazar: Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Yayımlandı Am J Hum Genet (2016)

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Yazar: Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P. J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin
Baskı/Yayın Bilgisi 2011

DNM1 encephalopathy: A new disease of vesicle fission

Yazar: von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo
Yayımlandı Neurology (2017)

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Yazar: Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Yayımlandı Am J Hum Genet (2017)