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Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J.; Godler, David E. Share Save
Genotype and phenotype correlation of PHACTR1-related neurological disorders Xu, Zhao; Sadleir, Lynette; Goel, Himanshu; Jiao, Xianru; Niu, Yue; Zhou, Zongpu; de Valles-Ibanez, Guillem; Poke, Gemma; Hildebrand, Michael; Lieffering, Nico; Qin, Jiong; Yang, Zhixian Share Save
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome Ben-Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo-Hyun; Kim, Woo-Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol-Hee; Layman, Lawrence C.; Kim, Hyung-Goo Share Save
A mainstreaming oncogenomics model: improving the identification of Lynch syndrome O'Shea, Rosie; Crook, Ashley; Jacobs, Chris; Kentwell, Maira; Gleeson, Margaret; Tucker, Katherine M.; Hampel, Heather; Rahm, Alanna Kulchak; Taylor, Natalie; Lewis, Sarah; Rankin, Nicole M. Share Save
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability Francis, David I.; Stark, Zornitza; Scheffer, Ingrid E.; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J.; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A.; Krzesinski, Emma I.; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L.; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan Share Save
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 Morison, Lottie D.; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A.; Amor, David J.; Kleefstra, Tjitske; Fisher, Simon E.; Zweier, Christiane; Morgan, Angela T. Share Save
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Bosselmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia (vol 7, 67, 2012) Huang, Lijia; Warman-Chardon, Jodi; Carter, Melissa T.; Friend, Kathie L.; Dudding, Tracy E.; Schwartzentruber, Jeremy; Zou, Ruobing; Schofield, Peter W.; Douglas, Stuart; Bulman, Dennis E.; Boycott, Kym M. Share Save
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow Godler, David E.; Ling, Ling; Gamage, Dinusha; Baker, Emma K.; Bui, Minh; Field, Michael J.; Rogers, Carolyn; Butler, Merlin G.; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E.; Skinner, Cindy D.; Alliende, Angelica M.; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J. Share Save
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T. Share Save
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Iqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K.; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A.; Budde, Birgit; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan Share Save
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The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia Baker, Emma K.; Arora, Sheena; Amor, David J.; Date, Perrin; Cross, Meagan; O'Brien, James; Simons, Chloe; Rogers, Carolyn; Goodall, Stephen; Slee, Jennie; Cahir, Chris; Godler, David E. Share Save
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