Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

nork Wardeh, Amr, Jackson, Tyson, Nelson, Beverly, Ernst, Carl, Théroux, Jean‐François, Al‐Hertani, Walla, Sobering, Andrew K., Maj, Mary C.
Argitaratua izan da Clin Case Rep (2018)

A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers

nork Ayers, Kristin L., Mirshahi, Uyenlinh L., Wardeh, Amr H., Murray, Michael F., Hao, Ke, Glicksberg, Benjamin S., Li, Shuyu, Carey, David J., Chen, Rong
Argitaratua izan da BMC Genomics (2016)

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

nork Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M., Benotti, Peter N., Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V., Murray, Michael F., Mahajan, Anubha, Nielsen, Jonas B., Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F., Sjögren, Marketa, Emdin, Connor A., Scott, Robert A., Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C., Dwivedi, Om Prakash, Prasad, Rashmi B., Bruse, Shannon, Lopez, Alexander E., Penn, John, Marcketta, Anthony, Leader, Joseph B., Still, Christopher D., Kirchner, H. Lester, Mirshahi, Uyenlinh L., Wardeh, Amr H., Hartle, Cassandra M., Habegger, Lukas, Fetterolf, Samantha N., Tusie-Luna, Teresa, Morris, Andrew P., Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I., Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M., Khera, Amit V., Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A., Willer, Cristen J., Holmen, Oddgeir L., Ritchie, Marylyn D., Ledbetter, David H., Murphy, Andrew J., Borecki, Ingrid B., Reid, Jeffrey G., Overton, John D., Hansson, Ola, Groop, Leif, Shah, Svati H., Kraus, William E., Rader, Daniel J., Chen, Yii-Der I., Hveem, Kristian, Wareham, Nicholas J., Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G., Tybjærg-Hansen, Anne, Abecasis, Goncalo R., Altshuler, David, Florez, Jose C., Boehnke, Michael, McCarthy, Mark I., Yancopoulos, George D., Carey, David J., Shuldiner, Alan R., Baras, Aris, Dewey, Frederick E., Gromada, Jesper
Argitaratua izan da Nat Commun (2018)