Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer

por Liu, Yaxuan, Helgadottir, Hafdis T., Kharaziha, Pedram, Choi, Jungmin, López-Giráldez, Francesc, Mane, Shrikant M., Höiom, Veronica, Juhlin, Carl Christofer, Larsson, Catharina, Bajalica-Lagercrantz, Svetlana
Publicado 2022

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

por Çağlayan, Ahmet Okay, Tüysüz, Beyhan, Coşkun, Süleyman, Quon, Jennifer, Harmanci, Akdes Serin, Baranoski, Jacob F., Baran, Burçin, Erson-Omay, E. Zeynep, Henegariu, Octavian, Mane, Shrikant M., Bilgüvar, Kaya, Yasuno, Katsuhito, Günel, Murat
Publicado 2016

Functional Genomic and Proteomic Analysis Reveals Disruption of Myelin-Related Genes and Translation in a Mouse Model of Early Life Neglect

por Bordner, Kelly A., George, Elizabeth D., Carlyle, Becky C., Duque, Alvaro, Kitchen, Robert R., Lam, TuKiet T., Colangelo, Christopher M., Stone, Kathryn L., Abbott, Thomas B., Mane, Shrikant M., Nairn, Angus C., Simen, Arthur A.
Publicado 2011

Whole exome sequencing reveals somatic mutations in HRAS and KRAS which cause nevus sebaceus

por Levinsohn, Jonathan L., Tian, Li C., Boyden, Lynn M., McNiff, Jennifer M., Narayan, Deepak, Loring, Erin S., Yun, Duri, Sugarman, Jeffrey L., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Paller, Amy S., Wagner, Annette M., Antaya, Richard J., Choate, Keith A.
Publicado 2012

Common genetic variants, acting additively, are a major source of risk for autism

por Klei, Lambertus, Sanders, Stephan J, Murtha, Michael T, Hus, Vanessa, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Lord, Catherine, Mane, Shrikant M, Martin, Christa Lese, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Melhem, Nadine M, Chaste, Pauline, Sutcliffe, James S, State, Matthew W, Cook, Edwin H, Roeder, Kathryn, Devlin, Bernie
Publicado 2012

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

por van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen, Lu, Weining, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund, Hildebrandt, Friedhelm
Publicado 2018

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

por Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Publicado 2013

Keck Foundation Biotechnology Resource Laboratory, Yale University

por Stone, Kathryn L., Bjornson, Robert D., Blasko, Gregory G., Bruce, Can, Cofrancesco, Renee, Carriero, Nicholas J., Colangelo, Christopher M., Crawford, Janet K., Crawford, J. Myron, daSilva, Nancy C., Deluca, Joseph D., Elliott, James I., Elliott, Margaret M., Flory, P. John, Folta-Stogniew, Ewa J., Gulcicek, Erol, Kong, Yong, Lam, TuKiet T., Lee, Ji Y., Lin, Aiping, LoPresti, Mary B., Mane, Shrikant M., McMurray, Walter J., Tikhonova, Irina R., Westman, Sheila, Williams, Nancy A., Wu, Terence L., Hongyu, Zhao, Williams, Kenneth R.
Publicado 2008

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

por Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm
Publicado 2022

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

por Jin, Sheng Chih, Homsy, Jason, Zaidi, Samir, Lu, Qiongshi, Morton, Sarah, DePalma, Steven R., Zeng, Xue, Qi, Hongjian, Chang, Weni, Sierant, Michael C., Hung, Wei-Chien, Haider, Shozeb, Zhang, Junhui, Knight, James, Bjornson, Robert D., Castaldi, Christopher, Tikhonoa, Irina R., Bilguvar, Kaya, Mane, Shrikant M., Sanders, Stephan J., Mital, Seema, Russell, Mark, Gaynor, William, Deanfield, John, Giardini, Alessandro, Porter, George A., Srivastava, Deepak, Lo, Cecelia W., Shen, Yufeng, Watkins, W. Scott, Yandell, Mark, Yost, H. Joseph, Tristani-Firouzi, Martin, Newburger, Jane W., Roberts, Amy E., Kim, Richard, Zhao, Hongyu, Kaltman, Jonathan R., Goldmuntz, Elizabeth, Chung, Wendy K., Seidman, Jonathan G., Gelb, Bruce D., Seidman, Christine E., Lifton, Richard P., Brueckner, Martina
Publicado 2017

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

por Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Publicado 2012

De novo mutations in histone modifying genes in congenital heart disease

por Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe'er, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., Lifton, Richard P.
Publicado 2013

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado 2018