Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye

بواسطة Servattalab, Sarah, Yildiz, Ozge, Khanna, Hemant
منشور في 2012

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

بواسطة Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos
الحاوية / القاعدة Sci Rep (2020)

Loss of PCLO function underlies pontocerebellar hypoplasia type III

بواسطة Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.
الحاوية / القاعدة Neurology (2015)

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

بواسطة Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
الحاوية / القاعدة Am J Hum Genet (2015)

Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome

بواسطة Javalkar, Karina, Robson, Victoria K., Gaffney, Lukas, Bohling, Amy M., Arya, Puneeta, Servattalab, Sarah, Roberts, Jordan E., Campbell, Jeffrey I., Sekhavat, Sepehr, Newburger, Jane W., de Ferranti, Sarah D., Baker, Annette L., Lee, Pui Y., Day-Lewis, Megan, Bucholz, Emily, Kobayashi, Ryan, Son, Mary Beth, Henderson, Lauren A., Kheir, John N., Friedman, Kevin G., Dionne, Audrey
الحاوية / القاعدة Pediatrics (2021)

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

بواسطة Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima
منشور في 2014

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

بواسطة Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.
الحاوية / القاعدة Nat Genet (2017)

Somatic Mutations in Cerebral Cortical Malformations

بواسطة Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.
الحاوية / القاعدة N Engl J Med (2014)