Questionable pathogenicity of FOXG1 duplication

por Amor, David J, Burgess, Trent, Tan, Tiong Y, Pertile, Mark D
Publicado 2012

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

por Farlie, Peter G., Baker, Naomi L., Yap, Patrick, Tan, Tiong Y.
Publicado en Mol Syndromol (2016)

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

por Clark, Michelle M., Stark, Zornitza, Farnaes, Lauge, Tan, Tiong Y., White, Susan M., Dimmock, David, Kingsmore, Stephen F.
Publicado en NPJ Genom Med (2018)

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

por Stark, Zornitza, Dashnow, Harriet, Lunke, Sebastian, Tan, Tiong Y, Yeung, Alison, Sadedin, Simon, Thorne, Natalie, Macciocca, Ivan, Gaff, Clara, Oshlack, Alicia, White, Susan M, James, Paul A
Publicado en Eur J Hum Genet (2017)

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

por Miller, Kerry A., Tan, Tiong Y., Welfare, Megan F., White, Susan M., Stark, Zornitza, Savarirayan, Ravi, Burgess, Trent, Heggie, Andrew A., Caruana, Georgina, Bertram, John F., Bateman, John F., Farlie, Peter G.
Publicado en Mol Syndromol (2014)

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

por Miller, Kerry A., Ah-Cann, Casey J., Welfare, Megan F., Tan, Tiong Y., Pope, Kate, Caruana, Georgina, Freckmann, Mary-Louise, Savarirayan, Ravi, Bertram, John F., Dobbie, Michael S., Bateman, John F., Farlie, Peter G.
Publicado 2013

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

por Akesson, Lauren S., Eggers, Stefanie, Love, Clare J., Chong, Belinda, Krzesinski, Emma I., Brown, Natasha J., Tan, Tiong Y., Richmond, Christopher M., Thorburn, David R., Christodoulou, John, Hunter, Matthew F., Lunke, Sebastian, Stark, Zornitza
Publicado en Eur J Hum Genet (2019)

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

por Gordon, Christopher T., Attanasio, Catia, Bhatia, Shipra, Benko, Sabina, Ansari, Morad, Tan, Tiong Y., Munnich, Arnold, Pennacchio, Len A., Abadie, Véronique, Temple, I. Karen, Goldenberg, Alice, van Heyningen, Veronica, Amiel, Jeanne, FitzPatrick, David, Kleinjan, Dirk A., Visel, Axel, Lyonnet, Stanislas
Publicado en Hum Mutat (2014)

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

por 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
Publicado en Hum Mutat (2020)

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

por Dong, Xiaomin, Tan, Natalie B., Howell, Katherine B., Barresi, Sabina, Freeman, Jeremy L., Vecchio, Davide, Piccione, Maria, Radio, Francesca Clementina, Calame, Daniel, Zong, Shan, Eggers, Stefanie, Scheffer, Ingrid E., Tan, Tiong Y., Van Bergen, Nicole J., Tartaglia, Marco, Christodoulou, John, White, Susan M.
Publicado en Am J Hum Genet (2020)

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong

por Tao, Victoria Q., Chan, Kelvin Y. K., Chu, Yoyo W. Y., Mok, Gary T. K., Tan, Tiong Y., Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W. Y., Lau, Elizabeth T., Kan, Anita S. Y., Tang, Mary H., Lau, Yu-lung, Chung, Brian H. Y.
Publicado 2014

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

por Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John
Publicado en J Clin Med (2019)

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

por 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.
Publicado en Mol Genet Genomic Med (2020)

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

por Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita
Publicado en Eur J Hum Genet (2015)

Cerebral hypomyelination associated with biallelic variants of FIG4

por Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Miriam, Fanjul-Fernandez, Victoria, Rodriguez-Casero, Lockhart, Paul J, Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.
Publicado en Hum Mutat (2019)

Phenotype Delineation of ZNF462 related syndrome

por 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
Publicado en Am J Med Genet A (2019)

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

por Rice, Gillian I, Bond, Jacquelyn, Asipu, Aruna, Brunette, Rebecca L, Manfield, Iain W, Carr, Ian M, Fuller, Jonathan C, Jackson, Richard M, Lamb, Teresa, Briggs, Tracy A, Ali, Manir, Gornall, Hannah, Couthard, Lydia R, Aeby, Alec, Attard-Montalto, Simon P, Bertini, Enrico, Bodemer, Christine, Brockmann, Knut, Brueton, Louise A, Corry, Peter C, Desguerre, Isabelle, Fazzi, Elisa, Cazorla, Angels Garcia, Gener, Blanca, Hamel, Ben C J, Heiberg, Arvid, Hunter, Matthew, van der Knaap, Marjo S, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenco, Charles M, Marom, Daphna, McDermott, Michael F, van der Merwe, William, Orcesi, Simona, Prendiville, Julie S, Rasmussen, Magnhild, Shalev, Stavit A, Soler, Doriette M, Shinawi, Marwan, Spiegel, Ronen, Tan, Tiong Y, Vanderver, Adeline, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Lebon, Pierre, Stetson, Daniel B, Bonthron, David T, Crow, Yanick J
Publicado 2009

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

por Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, Laet, Corinne De, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O’Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Publicado 2012

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

por Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, Stark, Zornitza
Publicado en JAMA (2020)

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

por Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina, Lev-El, Noa, Denecke, Jonas, Vissers, Lisenka E L M, Radtke, Kelly, Chelly, Jamel, Zackai, Elaine, Friedman, Jan M, Bamshad, Michael J, Nickerson, Deborah A, Reid, Russell R, Devriendt, Koenraad, Chae, Jong-Hee, Stolerman, Elliot, McDougall, Carey, Powis, Zöe, Bienvenu, Thierry, Tan, Tiong Y, Orenstein, Naama, Dobyns, William B, Shieh, Joseph T, Choi, Murim, Waggoner, Darrel, Gripp, Karen W, Parker, Michael J, Stoler, Joan, Lyonnet, Stanislas, Cormier-Daire, Valérie, Viskochil, David, Hoffman, Trevor L, Amiel, Jeanne, Chung, Brian H Y, Gordon, Christopher T
Publicado en Brain (2020)