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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
By:
- Sim, Joe C. H.;
- White, Susan M.;
- Fitzpatrick, Elizabeth;
- Wilson, Gabrielle R.;
- Gillies, Greta;
- Pope, Kate;
- Mountford, Hayley S.;
- Torring, Pernille M.;
- McKee, Shane;
- Vulto-van Silfhout, Anneke T.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Leventer, Richard J.;
- Delatycki, Martin B.;
- Amor, David J.;
- Lockhart, Paul J.
Publication type:
Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Published in:
2014
By:
- Sim, Joe C H;
- White, Susan M;
- Fitzpatrick, Elizabeth;
- Wilson, Gabrielle R;
- Gillies, Greta;
- Pope, Kate;
- Mountford, Hayley S;
- Torring, Pernille M;
- McKee, Shane;
- Vulto-van Silfhout, Anneke T;
- Jhangiani, Shalini N;
- Muzny, Donna M;
- Leventer, Richard J;
- Delatycki, Martin B;
- Amor, David J;
- Lockhart, Paul J
Publication type:
journal article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Published in:
2016
By:
- Jijun Wan;
- Steffen, Janos;
- Yourshaw, Michael;
- Mamsa, Hafsa;
- Andersen, Erik;
- Rudnik-Schöneborn, Sabine;
- Pope, Kate;
- Howell, Katherine B.;
- McLean, Catriona A.;
- Kornberg, Andrew J.;
- Joseph, Jörg;
- Lockhart, Paul J.;
- Zerres, Klaus;
- Ryan, Monique M.;
- Nelson, Stanley F.;
- Koehler, Carla M.;
- Jen, Joanna C.;
- Wan, Jijun
Publication type:
journal article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
By:
- Marsh, Ashley P. L.;
- Yap, Patrick;
- Tan, Tiong;
- Pope, Kate;
- White, Susan M.;
- Chong, Belinda;
- Mcgillivray, George;
- Boys, Amber;
- Stephenson, Sarah E. M.;
- Leventer, Richard J.;
- Stark, Zornitza;
- Lockhart, Paul J.
Publication type:
Article
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1483, doi. 10.1002/ajmg.a.37026
By:
- Morgan, Angela T.;
- Mei, Cristina;
- Da Costa, Annette;
- Fifer, Joanne;
- Lederer, Damien;
- Benoit, Valérie;
- McMillin, Margaret J.;
- Buckingham, Kati J.;
- Bamshad, Michael J.;
- Pope, Kate;
- White, Susan M.
Publication type:
Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
By:
- Wilson, Gabrielle R;
- Sunley, Jasmine;
- Smith, Katherine R;
- Pope, Kate;
- Bromhead, Catherine J;
- Fitzpatrick, Elizabeth;
- Di Rocco, Maja;
- van Steensel, Maurice;
- Coman, David J;
- Leventer, Richard J;
- Delatycki, Martin B;
- Amor, David J;
- Bahlo, Melanie;
- Lockhart, Paul J
Publication type:
Article
Public Relations and Marketing for Archives.
Published in:
2012
By:
- Pope, Kate
Publication type:
Book Review
Formulating a dual role policy for a small day surgery unit.
Published in:
Journal of Perioperative Practice, 2006, v. 16, n. 6, p. 274, doi. 10.1177/175045890601600601
By:
- Pope, Kate
Publication type:
Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
By:
- Lee, Wei Shern;
- Stephenson, Sarah E. M.;
- Howell, Katherine B.;
- Pope, Kate;
- Gillies, Greta;
- Wray, Alison;
- Maixner, Wirginia;
- Mandelstam, Simone A.;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.;
- MacGregor, Duncan;
- Harvey, Anthony Simon;
- Lockhart, Paul J.;
- Leventer, Richard J.
Publication type:
Article
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 5, p. 318, doi. 10.1002/acn3.409
By:
- Walsh, Maie;
- Bell, Katrina M.;
- Chong, Belinda;
- Creed, Emma;
- Brett, Gemma R.;
- Pope, Kate;
- Thorne, Natalie P.;
- Sadedin, Simon;
- Georgeson, Peter;
- Phelan, Dean G.;
- Day, Timothy;
- Taylor, Jessica A.;
- Sexton, Adrienne;
- Lockhart, Paul J.;
- Kiers, Lynette;
- Fahey, Michael;
- Macciocca, Ivan;
- Gaff, Clara L.;
- Oshlack, Alicia;
- Yiu, Eppie M.
Publication type:
Article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Published in:
2016
By:
- Sim, Joe C.;
- Scerri, Thomas;
- Fanjul‐Fernández, Miriam;
- Riseley, Jessica R.;
- Gillies, Greta;
- Pope, Kate;
- van Roozendaal, Hanna;
- Heng, Julian I.;
- Mandelstam, Simone A.;
- McGillivray, George;
- MacGregor, Duncan;
- Kannan, Lakshminarayanan;
- Maixner, Wirginia;
- Harvey, A. Simon;
- Amor, David J.;
- Delatycki, Martin B.;
- Crino, Peter B.;
- Bahlo, Melanie;
- Lockhart, Paul J.;
- Leventer, Richard J.
Publication type:
journal article
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Published in:
Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
By:
- Kooshavar, Daniz;
- Amor, David J;
- Boggs, Kirsten;
- Baker, Naomi;
- Barnett, Christopher;
- Silva, Michelle G de;
- Edwards, Samantha;
- Fahey, Michael C;
- Marum, Justine E;
- Snell, Penny;
- Bozaoglu, Kiymet;
- Pope, Kate;
- Mohammad, Shekeeb S;
- Riney, Kate;
- Sachdev, Rani;
- Scheffer, Ingrid E;
- Schenscher, Sarah;
- Silberstein, John;
- Smith, Nicholas;
- Tom, Melanie
Publication type:
Article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 3, p. 362, doi. 10.1093/hmg/ddab248
By:
- Bergen, Nicole J Van;
- Bell, Katrina M;
- Carey, Kirsty;
- Gear, Russell;
- Massey, Sean;
- Murrell, Edward K;
- Gallacher, Lyndon;
- Pope, Kate;
- Lockhart, Paul J;
- Kornberg, Andrew;
- Pais, Lynn;
- Walkiewicz, Marzena;
- Simons, Cas;
- Flagship, MCRI Rare Diseases;
- Wickramasinghe, Vihandha O;
- White, Susan M;
- Christodoulou, John
Publication type:
Article
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Published in:
2020
By:
- Rafehi, Haloom;
- Szmulewicz, David J.;
- Pope, Kate;
- Wallis, Mathew;
- Christodoulou, John;
- White, Susan M.;
- Delatycki, Martin B.;
- Lockhart, Paul J.;
- Bahlo, Melanie
Publication type:
journal article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
By:
- Tan, Tiong Yang;
- Collins, Amanda;
- James, Paul A.;
- McGillivray, George;
- Stark, Zornitza;
- Gordon, Christopher T.;
- Leventer, Richard J.;
- Pope, Kate;
- Forbes, Robin;
- Crolla, John A.;
- Ganesamoorthy, Devika;
- Burgess, Trent;
- Bruno, Damien L.;
- Slater, Howard R.;
- Farlie, Peter G.;
- Amor, David J.
Publication type:
Article
Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.
Published in:
International Journal of Stroke, 2014, v. 9, n. 6, p. E26, doi. 10.1111/ijs.12306
By:
- Smith, Katherine R.;
- Leventer, Richard J.;
- Mackay, Mark T.;
- Pope, Kate;
- Gillies, Greta;
- Delatycki, Martin B.;
- Amor, David J.;
- Bahlo, Melanie;
- Lockhart, Paul J.
Publication type:
Article
<i>Cauli</i>: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome.
Published in:
PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003746
By:
- 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.
Publication type:
Article
‘Staying strong on the inside and outside’ to keep walking and moving around: Perspectives from Aboriginal people with Machado Joseph Disease and their families from the Groote Eylandt Archipelago, Australia.
Published in:
PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0212953
By:
- Carr, Jennifer J.;
- Lalara, Joyce;
- Lalara, Gayangwa;
- O’Hare, Gloria;
- Massey, Libby;
- Kenny, Nick;
- Pope, Kate E.;
- Clough, Alan R.;
- Lowell, Anne;
- Barker, Ruth N.
Publication type:
Article
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
Published in:
European Heart Journal, 2016, v. 37, n. 33, p. 2586, doi. 10.1093/eurheartj/ehw160
By:
- Phelan, Dean G.;
- Anderson, David J.;
- Howden, Sara E.;
- Wong, Raymond C. B.;
- Hickey, Peter F.;
- Pope, Kate;
- Wilson, Gabrielle R.;
- Pébay, Alice;
- Davis, Andrew M.;
- Petrou, Steven;
- Elefanty, Andrew G.;
- Stanley, Edouard G.;
- James, Paul A.;
- Macciocca, Ivan;
- Bahlo, Melanie;
- Cheung, Michael M.;
- Amor, David J.;
- Elliott, David A.;
- Lockhart, Paul J.
Publication type:
Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Published in:
Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
By:
- Scerri, Thomas;
- Riseley, Jessica R.;
- Gillies, Greta;
- Pope, Kate;
- Burgess, Rosemary;
- Mandelstam, Simone A.;
- Dibbens, Leanne;
- Chow, Chung W.;
- Maixner, Wirginia;
- Harvey, Anthony Simon;
- Jackson, Graeme D.;
- Amor, David J.;
- Delatycki, Martin B.;
- Crino, Peter B.;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.;
- Bahlo, Melanie;
- Lockhart, Paul J.;
- Leventer, Richard J.
Publication type:
Article

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