Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Byrne, Alicia B, Mizumoto, Shuji, Arts, Peer, Yap, Patrick, Feng, Jinghua, Schreiber, Andreas W, Babic, Milena, King-Smith, Sarah L, Barnett, Christopher P, Moore, Lynette, Sugahara, Kazuyuki, Mutlu-Albayrak, Hatice, Nishimura, Gen, Liebelt, Jan E, Yamada, Shuhei, Savarirayan, Ravi, Scott, Hamish S
Published in Journal of medical genetics (01.07.2020)
Published in Journal of medical genetics (01.07.2020)
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Byrne, Alicia B, Arts, Peer, Ha, Thuong T, Kassahn, Karin S, Pais, Lynn S, O'Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S B, Feng, Jinghua, Wang, Paul, Lawrence, David M, Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T Yee, Moore, Lynette, Liebelt, Jan E, Schreiber, Andreas W, King-Smith, Sarah L, Hardy, Tristan S E, Jackson, Matilda R, Barnett, Christopher P, Scott, Hamish S
Published in Nature medicine (01.01.2023)
Published in Nature medicine (01.01.2023)
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A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Published in BMC genetics (19.11.2010)
Published in BMC genetics (19.11.2010)
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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Burdon, Kathryn P., Durkin, Shane R., Burke, Mary, Edwards, Matthew, Pater, John, Straga, Tania, Gecz, Jozef, Liebelt, Jan E., Craig, Jamie E.
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Byrne, Alicia B, Arts, Peer, Ha, Thuong T, Kassahn, Karin S, Pais, Lynn S, O'Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S B, Feng, Jinghua, Wang, Paul, Lawrence, David M, Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T Yee, Moore, Lynette, Liebelt, Jan E, Schreiber, Andreas W, King-Smith, Sarah L, Hardy, Tristan S E, Jackson, Matilda R, Barnett, Christopher P, Scott, Hamish S
Published in Nature medicine (01.01.2024)
Published in Nature medicine (01.01.2024)
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L, Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C, Ganesh, Vijay S, Ma, Jialan, Ellingford, Jamie M, Delage, Erwan, Dong, Shan, Adams, David R, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Bhatnagar, Ishita, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Coman, David J, Compton, Alison G, Cunningham, Chloe A, Danecek, Petr, Délot, Emmanuèle C, Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Goriely, Anne, Grant, Christina L, Haack, Tobias, Hinch, Anjali G, Kuechler, Alma, Lachlan, Katherine L, Lalani, Seema R, Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lindsay, Sarah, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Mansour, Sahar, Maurer, Taylor M, Mendez, Hector R, Metcalfe, Kay, Montgomery, Stephen B, Nassogne, Marie-Cécile, Neumann, Serena, O'Donoghue, Michael, Palmer, Elizabeth E, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Reuter, Chloe M, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A, Sachdev, Rani, Shaw-Smith, Charles J, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, Stark, Zornitza, Stewart, Helen S, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna E L, Tifft, Cynthia J, Uebergang, Eloise, Vilain, Eric, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna M M, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola
Published in Nature (London) (22.08.2024)
Published in Nature (London) (22.08.2024)
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Stenton, Sarah L, Walker, Susan, Ljungdahl, Alicia, Lord, Jenny, Ganesh, Vijay S, Ma, Jialan, Martin-Geary, Alexandra C, Lemire, Gabrielle, D'Souza, Elston N, Dong, Shan, Ellingford, Jamie M, Adams, David R, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Compton, Alison G, Cunningham, Chloe A, D'Souza, Precilla, Délot, Emmanuèle C, Dias, Kerith-Rae, Elias, Ellen R, Evans, Carey-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Grant, Christina L, Haack, Tobias, Kuechler, Alma, Lalani, Seema R, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Maurer, Taylor M, Mendez, Hector R, Montgomery, Stephen B, Nassogne, Marie-Cécile, Neumann, Serena, O'Leary, Melanie, Palmer, Elizabeth E, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L, Reuter, Chloe M, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A, Sachdev, Rani, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, Clair, Laura, Stark, Zornitza, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna El, Thorburn, David R, Tifft, Cynthia J, Uebergang, Eloise, VanNoy, Grace E, Vilain, Eric, Viskochil, David H, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna Mm, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola
Published in medRxiv : the preprint server for health sciences (09.04.2024)
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Published in medRxiv : the preprint server for health sciences (09.04.2024)
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