Mutations in NOTCH1 Cause Adams-Oliver Syndrome von Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.

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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome von Menke, Leonie A., Gardeitchik, Thatjana, Hammond, Peter, Heimdal, Ketil R., Houge, Gunnar, Hufnagel, Sophia B., Ji, Jianling, Johansson, Stefan, Kant, Sarina G., Kinning, Esther, Leon, Eyby L., Newbury‐Ecob, Ruth, Paolacci, Stefano, Pfundt, Rolph, Ragge, Nicola K., Rinne, Tuula, Ruivenkamp, Claudia, Saitta, Sulagna C., Sun, Yu, Tartaglia, Marco, Terhal, Paulien A., van Essen, Anthony J., Vigeland, Magnus D., Xiao, Bing, Hennekam, Raoul C.

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A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome von Christensen, Robert D., Yaish, Hassan M., Leon, Eyby L., Sola-Visner, Martha C., Agrawal, Pankaj B.

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Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care von Khromykh, Alina, Solomon, Benjamin D., Bodian, Dale L., Leon, Eyby L., Iyer, Ramaswamy K., Baker, Robin L., Ascher, David P., Baveja, Rajiv, Vockley, Joseph G., Niederhuber, John E.

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies von Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly von 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., Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S., Lovgren, Alysia Kern, 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 M.A., Issa, Mahmoud Y., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency von Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.

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Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders von Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O'Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, der Smagt, Jasper, Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.

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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 von Shur, Natasha, Atabaki, Shireen M., Kisling, Monisha S., Tabarani, Abir, Williams, Clarence, Fraser, Jamie L., Regier, Debra, Summar, Marshall

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity von Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean‐Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Guillen Sacoto, Maria J., Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.

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Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders von Kang, Seok Kyu, Vanoye, Carlos G, Misra, Sunita N, Echevarria, Dennis M, Calhoun, Jeffrey D, O'Connor, John B, Fabre, Katarina L, McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E, Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A, Torkamani, Ali, van der Smagt, Jasper, van Gassen, Koen, Carson, Robert P, Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E, Hannibal, Mark C, Litwin, Jessica, Friedman, Neil R, Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D, Goldberg, Ethan M, Millichap, John J, George, Jr, Alfred L, Kearney, Jennifer A

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity von Cheng Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li Quan, Zhao Mengge, Weng Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aime, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Goncalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J., Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Ades, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang Kai, Timmers, H. T. Marc, Lyon, Gholson J.

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity von Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G, Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aime, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E, Palmer, Elizabeth E, Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amalia, Vogt, Julie, de Munnik, Sonja A, Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Goncalves, Ana R, Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L, Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J. Guillen, Douglas, Ganka, Alexander, Nora, Buckley, Michael F, Mark, Paul R, Ades, Lesley C, Sandaradura, Sarah A, Lupski, James R, Roscioli, Tony, Agrawal, Pankaj B, Kline, Antonie D, Wang, Kai, Timmers, H.T. Marc, Lyon, Gholson J

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies von Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E, Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P, Baple, Emma L, Dean, John, Fong, Chin-To, Hickey, Scott E, Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F, Stray-Pedersen, Asbjorg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P, Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M, Smith, Janice L, Shaw, Chad, Crosby, Andrew H, Eng, Christine, Yang, Yaping, Lupski, James R, Xiao, Rui, Liu, Pengfei

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Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders von Kang, Seok Kyu, Vanoye, Carlos G, Misra, Sunita N, Echevarria, Dennis M, Calhoun, Jeffrey D, O'Connor, John B, Fabre, Katarina L, McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E, Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A, Torkamani, Ali, van der Smagt, Jasper, van Gassen, Koen, Carson, Robert P, Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E, Hannibal, Mark C, Litwin, Jessica, Friedman, Neil R, Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D, Goldberg, Ethan M, Millichap, John J, George, Alfred L, Kearney, Jennifer A

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020) von Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G, Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aime, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E, Palmer, Elizabeth E, Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A, Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Goncalves, Ana R, Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L, Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J, Douglas, Ganka, Alexander, Nora, Buckley, Michael F, Mark, Paul R, Ades, Lesley C, Sandaradura, Sarah A, Lupski, James R, Roscioli, Tony, Agrawal, Pankaj B, Kline, Antonie D, Wang, Kai, Timmers, H.T. Marc, Lyon, Gholson J

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