Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

بواسطة Foley, Samantha B., Rios, Jonathan J., Mgbemena, Victoria E., Robinson, Linda S., Hampel, Heather L., Toland, Amanda E., Durham, Leslie, Ross, Theodora S.
الحاوية / القاعدة EBioMedicine (2014)

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

بواسطة Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza
الحاوية / القاعدة Am J Hum Genet (2019)