Search Results - Pais, Lynn S.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans by Van Bergen, Nicole J, Bell, Katrina M, Carey, Kirsty, Gear, Russell, Massey, Sean, Murrell, Edward K, Gallacher, Lyndon, Pope, Kate, Lockhart, Paul J, Kornberg, Andrew, Pais, Lynn, Walkiewicz, Marzena, Simons, Cas, Wickramasinghe, Vihandha O, White, Susan M, Christodoulou, John

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Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 by Helman, Guy, Compton, Alison G., Hock, Daniella H., Walkiewicz, Marzena, Brett, Gemma R., Pais, Lynn, Tan, Tiong Y., De Paoli-Iseppi, Ricardo, Clark, Michael B., Christodoulou, John, White, Susan M., Thorburn, David R., Stroud, David A., Stark, Zornitza, Simons, Cas

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A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder by Jones, Lynelle K., Lam, Rachel, McKee, Karen K., Aleksandrova, Maya, Dowling, John, Alexander, Stephen I., Mallawaarachchi, Amali, Cottle, Denny L., Short, Kieran M., Pais, Lynn, Miner, Jeffery H., Mallett, Andrew J., Simons, Cas, McCarthy, Hugh, Yurchenco, Peter D., Smyth, Ian M.

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability by Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula

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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features by Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A., Adams, Darius J., Lai, Abbe, Pais, Lynn, Iwaszkiewicz, Justyna, Millan, Francisca, Sarwar, Muhammad T., Agha, Zehra, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Falconnet, Emilie, Zoete, Vincent, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico A., Ahmed, Jawad, Katsanis, Nicholas, Walsh, Christopher, Davis, Erica E., Antonarakis, Stylianos E.

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures by Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, O’Connell, Mary A.

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review by Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.

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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies by Lemire, Gabrielle, Ito, Yoko A., Marshall, Aren E., Chrestian, Nicolas, Stanley, Valentina, Brady, Lauren, Tarnopolsky, Mark, Curry, Cynthia J., Hartley, Taila, Mears, Wendy, Derksen, Alexa, Rioux, Nadie, Laflamme, Nataly, Hutchison, Harrol T., Pais, Lynn S., Zaki, Maha S., Sultan, Tipu, Dane, Adrie D., Gleeson, Joseph G., Vaz, Frédéric M., Kernohan, Kristin D., Bernard, Geneviève, Boycott, Kym M.

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Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation by Hansen, Adam W., Arora, Payal, Khayat, Michael M., Smith, Leah J., Lewis, Andrea M., Rossetti, Linda Z., Jayaseelan, Joy, Cristian, Ingrid, Haynes, Devon, DiTroia, Stephanie, Meeks, Naomi, Delgado, Mauricio R., Rosenfeld, Jill A., Pais, Lynn, White, Susan M., Meng, Qingchang, Pehlivan, Davut, Liu, Pengfei, Gingras, Marie-Claude, Wangler, Michael F., Muzny, Donna M., Lupski, James R., Kaplan, Craig D., Gibbs, Richard A.

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder by Natera-de Benito, Daniel, Jurgens, Julie A., Yeung, Alison, Zaharieva, Irina T., Manzur, Adnan, DiTroia, Stephanie P., Di Gioia, Silvio Alessandro, Pais, Lynn, Pini, Veronica, Barry, Brenda J., Chan, Wai-Man, Elder, James E, Christodoulou, John, Hay, Eleanor, England, Eleina M., Munot, Pinki, Hunter, David G., Feng, Lucy, Ledoux, Danielle, O’Donnell-Luria, Anne, Phadke, Rahul, Engle, Elizabeth C., Sarkozy, Anna, Muntoni, Francesco

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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder by Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs-Hoeijmakers, Janneke, Boon, Elles M J, van Hagen, Johanna M, Zwijnenburg, Petra, Weiss, Marjan M, Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G, Kotzot, Dieter, Mayr, Johannes A, Ben-Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S, Walsh, Christopher A, Shashi, Vandana, Sullivan, Jennifer A, Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne-Marie, Charollais, Aude, Rodan, Lance H

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Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program by Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn, Tan, Natalie B., Yeung, Alison, Stark, Zornitza, Brown, Natasha J, McGillivray, George, Delatycki, Martin B, de Silva, Michelle G., Downie, Lilian, Stutterd, Chloe A., Elliott, Justine, Compton, Alison G., Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, MacArthur, Daniel G., Thorburn, David R, O’Donnell-Luria, Anne, Christodoulou, John, White, Susan M., Tan, Tiong Yang

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling by Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience by Fossey, Robyn, Kochan, David, Winkler, Erin, Pacyna, Joel E., Olson, Janet, Thibodeau, Stephen, Connolly, John J., Harr, Margaret, Behr, Meckenzie A., Prows, Cynthia A., Cobb, Beth, Myers, Melanie F., Leslie, Nancy D., Namjou-Khales, Bahram, Milo Rasouly, Hila, Wynn, Julia, Fedotov, Alexander, Chung, Wendy K., Gharavi, Ali, Williams, Janet L., Pais, Lynn, Holm, Ingrid, Aufox, Sharon, Smith, Maureen E., Scrol, Aaron, Leppig, Kathleen, Jarvik, Gail P., Wiesner, Georgia L., Li, Rongling, Stroud, Mary, Smoller, Jordan W., Sharp, Richard R., Kullo, Iftikhar J.

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Phenotype Delineation of ZNF462 related syndrome by Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features by Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

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Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly by Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Hon-Yin Chung, Brian, Ho-Yin Tsang, Mandy, Pais, Lynn S., Kern Lovgren, Alysia, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth MA, Issa, Mahmoud Y., AbdelGhafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder by Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome by Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Lane Rutledge, S., Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.

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