Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

מאת Burn, Sabrina C., Swift, Kali, Palmquist, Maria
הוצא לאור ב Case Rep Genet (2018)

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

מאת Masuho, Ikuo, Fang, Mingyan, Geng, Chunyu, Zhang, Jianguo, Jiang, Hui, Özgul, Riza Köksal, Yılmaz, Didem Yücel, Yalnızoğlu, Dilek, Yüksel, Deniz, Yarrow, Anna, Myers, Angela, Burn, Sabrina C., Crotwell, Patricia L., Padilla-Lopez, Sergio, Dursun, Ali, Martemyanov, Kirill A., Kruer, Michael C.
הוצא לאור ב Neurol Genet (2016)

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

מאת Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.
הוצא לאור ב J Clin Invest (2021)