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	1.	Ataxia telangiectasia in a three-year-old-girl. [electronic resource] by Hosking, Kathryn Anne Leung, Harry Andrews, Ian Sachdev, Rani Producer: 20141023 In: Pediatric neurology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A genetic diagnostic approach to infantile epileptic encephalopathies. [electronic resource] by Kamien, Benjamin A Cardamone, Michael Lawson, John A Sachdev, Rani Producer: 20121022 In: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Characterizing the oculoauriculofrontonasal syndrome. [electronic resource] by Gabbett, Michael T Robertson, Stephen P Broadbent, Roland Aftimos, Salim Sachdev, Rani Nezarati, Marjan M Producer: 20080527 In: Clinical dysmorphology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children. [electronic resource] by Argent, Elizabeth Emder, Phillip Monagle, Paul Mowat, David Petterson, Toni Russell, Susan Sachdev, Rani Stone, Christine Ziegler, David S Producer: 20120921 In: Journal of paediatrics and child health vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. [electronic resource] by Palmer, Elizabeth Emma Hayner, Jaclyn Sachdev, Rani Cardamone, Michael Kandula, Tejaswi Morris, Paula Dias, Kerith-Rae Tao, Jiang Miller, David Zhu, Ying Macintosh, Rebecca Dinger, Marcel E Cowley, Mark J Buckley, Michael F Roscioli, Tony Bye, Ann Kilberg, Michael S Kirk, Edwin P Producer: 20160829 In: Molecular genetics and metabolism vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. [electronic resource] by Gururaj, Sushmitha Palmer, Elizabeth Emma Sheehan, Garrett D Kandula, Tejaswi Macintosh, Rebecca Ying, Kevin Morris, Paula Tao, Jiang Dias, Kerith-Rae Zhu, Ying Dinger, Marcel E Cowley, Mark J Kirk, Edwin P Roscioli, Tony Sachdev, Rani Duffey, Michael E Bye, Ann Bhattacharjee, Arin Producer: 20180613 In: Cell reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. [electronic resource] by Ewans, Lisa J Schofield, Deborah Shrestha, Rupendra Zhu, Ying Gayevskiy, Velimir Ying, Kevin Walsh, Corrina Lee, Eric Kirk, Edwin P Colley, Alison Ellaway, Carolyn Turner, Anne Mowat, David Worgan, Lisa Freckmann, Mary-Louise Lipke, Michelle Sachdev, Rani Miller, David Field, Michael Dinger, Marcel E Buckley, Michael F Cowley, Mark J Roscioli, Tony Producer: 20190514 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. [electronic resource] by Palmer, Elizabeth E Schofield, Deborah Shrestha, Rupendra Kandula, Tejaswi Macintosh, Rebecca Lawson, John A Andrews, Ian Sampaio, Hugo Johnson, Alexandra M Farrar, Michelle A Cardamone, Michael Mowat, David Elakis, George Lo, William Zhu, Ying Ying, Kevin Morris, Paula Tao, Jiang Dias, Kerith-Rae Buckley, Michael Dinger, Marcel E Cowley, Mark J Roscioli, Tony Kirk, Edwin P Bye, Ann Sachdev, Rani K Producer: 20180924 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Phenotypic insights into ADCY5-associated disease. [electronic resource] by Chang, Florence C F Westenberger, Ana Dale, Russell C Smith, Martin Pall, Hardev S Perez-Dueñas, Belen Grattan-Smith, Padraic Ouvrier, Robert A Mahant, Neil Hanna, Bernadette C Hunter, Matthew Lawson, John A Max, Christoph Sachdev, Rani Meyer, Esther Crimmins, Dennis Pryor, Donald Morris, John G L Münchau, Alex Grozeva, Detelina Carss, Keren J Raymond, Lucy Kurian, Manju A Klein, Christine Fung, Victor S C Producer: 20171229 In: Movement disorders : official journal of the Movement Disorder Society vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. [electronic resource] by Palmer, Elizabeth E Jarrett, Kelsey E Sachdev, Rani K Al Zahrani, Fatema Hashem, Mais Omar Ibrahim, Niema Sampaio, Hugo Kandula, Tejaswi Macintosh, Rebecca Gupta, Rajat Conlon, Donna M Billheimer, Jeffrey T Rader, Daniel J Funato, Kouichi Walkey, Christopher J Lee, Chang Seok Loo, Christine Brammah, Susan Elakis, George Zhu, Ying Buckley, Michael Kirk, Edwin P Bye, Ann Alkuraya, Fowzan S Roscioli, Tony Lagor, William R Producer: 20170720 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome. [electronic resource] by Dagar, Vinod Hutchison, Wendy Muscat, Andrea Krishnan, Anita Hoke, David Buckle, Ashley Siswara, Priscillia Amor, David J Mann, Jeffrey Pinner, Jason Colley, Alison Wilson, Meredith Sachdev, Rani McGillivray, George Edwards, Matthew Kirk, Edwin Collins, Felicity Jones, Kristi Taylor, Juliet Hayes, Ian Thompson, Elizabeth Barnett, Christopher Haan, Eric Freckmann, Mary-Louise Turner, Anne White, Susan Kamien, Ben Ma, Alan Mackenzie, Fiona Baynam, Gareth Kiraly-Borri, Cathy Field, Michael Dudding-Byth, Tracey Algar, Elizabeth M Producer: 20190715 In: Clinical epigenetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. [electronic resource] by Lee, Eric Le, Trang Zhu, Ying Elakis, George Turner, Anne Lo, William Venselaar, Hanka Verrenkamp, Carol-Ann Snow, Nicole Mowat, David Kirk, Edwin Philip Sachdev, Rani Smith, Janine Brown, Natasha Jane Wallis, Mathew Barnett, Chris McKenzie, Fiona Freckmann, Mary-Louise Collins, Felicity Chopra, Maya Gregersen, Nerine Hayes, Ian Rajagopalan, Sulekha Tan, Tiong Yang Stark, Zornitza Savarirayan, Ravi Yeung, Alison Adès, Lesley Gattas, Michael Gibson, Kate Gabbett, Michael Amor, David John Lattanzi, Wanda Boyd, Simeon Haan, Eric Gianoutsos, Mark Cox, Timothy Chilton Buckley, Michael Francis Roscioli, Tony Producer: 20190201 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. [electronic resource] by Gennarino, Vincenzo A Palmer, Elizabeth E McDonell, Laura M Wang, Li Adamski, Carolyn J Koire, Amanda See, Lauren Chen, Chun-An Schaaf, Christian P Rosenfeld, Jill A Panzer, Jessica A Moog, Ute Hao, Shuang Bye, Ann Kirk, Edwin P Stankiewicz, Pawel Breman, Amy M McBride, Arran Kandula, Tejaswi Dubbs, Holly A Macintosh, Rebecca Cardamone, Michael Zhu, Ying Ying, Kevin Dias, Kerith-Rae Cho, Megan T Henderson, Lindsay B Baskin, Berivan Morris, Paula Tao, Jiang Cowley, Mark J Dinger, Marcel E Roscioli, Tony Caluseriu, Oana Suchowersky, Oksana Sachdev, Rani K Lichtarge, Olivier Tang, Jianrong Boycott, Kym M Holder, J Lloyd Zoghbi, Huda Y Producer: 20190121 In: Cell vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. [electronic resource] by Palmer, Elizabeth E Hong, Seungbeom Al Zahrani, Fatema Hashem, Mais O Aleisa, Fajr A Ahmed, Heba M Jalal Kandula, Tejaswi Macintosh, Rebecca Minoche, Andre E Puttick, Clare Gayevskiy, Velimir Drew, Alexander P Cowley, Mark J Dinger, Marcel Rosenfeld, Jill A Xiao, Rui Cho, Megan T Yakubu, Suliat F Henderson, Lindsay B Guillen Sacoto, Maria J Begtrup, Amber Hamad, Muddathir Shinawi, Marwan Andrews, Marisa V Jones, Marilyn C Lindstrom, Kristin Bristol, Ruth E Kayani, Saima Snyder, Molly Villanueva, María Mercedes Schteinschnaider, Angeles Faivre, Laurence Thauvin, Christel Vitobello, Antonio Roscioli, Tony Kirk, Edwin P Bye, Ann Merzaban, Jasmeen Jaremko, Łukasz Jaremko, Mariusz Sachdev, Rani K Alkuraya, Fowzan S Arold, Stefan T Producer: 20191218 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	De novo and biallelic DEAF1 variants cause a phenotypic spectrum. [electronic resource] by Nabais Sá, Maria J Jensik, Philip J McGee, Stacey R Parker, Michael J Lahiri, Nayana McNeil, Evan P Kroes, Hester Y Hagerman, Randi J Harrison, Rachel E Montgomery, Tara Splitt, Miranda Palmer, Elizabeth E Sachdev, Rani K Mefford, Heather C Scott, Abbey A Martinez-Agosto, Julian A Lorenz, Rüdiger Orenstein, Naama Berg, Jonathan N Amiel, Jeanne Heron, Delphine Keren, Boris Cobben, Jan-Maarten Menke, Leonie A Marco, Elysa J Graham, John M Pierson, Tyler Mark Karimiani, Ehsan Ghayoor Maroofian, Reza Manzini, M Chiara Cauley, Edmund S Colombo, Roberto Odent, Sylvie Dubourg, Christele Phornphutkul, Chanika de Brouwer, Arjan P M de Vries, Bert B A Vulto-vanSilfhout, Anneke T Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome. [electronic resource] by Palmer, Elizabeth E Hong, Seungbeom Al Zahrani, Fatema Hashem, Mais O Aleisa, Fajr A Jalal Ahmed, Heba M Kandula, Tejaswi Macintosh, Rebecca Minoche, Andre E Puttick, Clare Gayevskiy, Velimir Drew, Alexander P Cowley, Mark J Dinger, Marcel Rosenfeld, Jill A Xiao, Rui Cho, Megan T Yakubu, Suliat F Henderson, Lindsay B Guillen Sacoto, Maria J Begtrup, Amber Hamad, Muddathir Shinawi, Marwan Andrews, Marisa V Jones, Marilyn C Lindstrom, Kristin Bristol, Ruth E Kayani, Saima Snyder, Molly Villanueva, Marıá Mercedes Schteinschnaider, Angeles Faivre, Laurence Thauvin, Christel Vitobello, Antonio Roscioli, Tony Kirk, Edwin P Bye, Ann Merzaban, Jasmeen Jaremko, Łukasz Jaremko, Mariusz Sachdev, Rani K Alkuraya, Fowzan S Arold, Stefan T Publication details: American journal of human genetics Apr 2019 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. [electronic resource] by Sekiguchi, Futoshi Tsurusaki, Yoshinori Okamoto, Nobuhiko Teik, Keng Wee Mizuno, Seiji Suzumura, Hiroshi Isidor, Bertrand Ong, Winnie Peitee Haniffa, Muzhirah White, Susan M Matsuo, Mari Saito, Kayoko Phadke, Shubha Kosho, Tomoki Yap, Patrick Goyal, Manisha Clarke, Lorne A Sachdev, Rani McGillivray, George Leventer, Richard J Patel, Chirag Yamagata, Takanori Osaka, Hitoshi Hisaeda, Yoshiya Ohashi, Hirofumi Shimizu, Kenji Nagasaki, Keisuke Hamada, Junpei Dateki, Sumito Sato, Takashi Chinen, Yasutsugu Awaya, Tomonari Kato, Takeo Iwanaga, Kougoro Kawai, Masahiko Matsuoka, Takashi Shimoji, Yoshikazu Tan, Tiong Yang Kapoor, Seema Gregersen, Nerine Rossi, Massimiliano Marie-Laure, Mathieu McGregor, Lesley Oishi, Kimihiko Mehta, Lakshmi Gillies, Greta Lockhart, Paul J Pope, Kate Shukla, Anju Girisha, Katta Mohan Abdel-Salam, Ghada M H Mowat, David Coman, David Kim, Ok Hwa Cordier, Marie-Pierre Gibson, Kate Milunsky, Jeff Liebelt, Jan Cox, Helen El Chehadeh, Salima Toutain, Annick Saida, Ken Aoi, Hiromi Minase, Gaku Tsuchida, Naomi Iwama, Kazuhiro Uchiyama, Yuri Suzuki, Toshifumi Hamanaka, Kohei Azuma, Yoshiteru Fujita, Atsushi Imagawa, Eri Koshimizu, Eriko Takata, Atsushi Mitsuhashi, Satomi Miyatake, Satoko Mizuguchi, Takeshi Miyake, Noriko Matsumoto, Naomichi Producer: 20200312 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)