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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Published in:
Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4
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
Publication type:
Article
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Published in:
2015
By:
- Todd, Emily J.;
- Yau, Kyle S.;
- Ong, Royston;
- Slee, Jennie;
- McGillivray, George;
- Barnett, Christopher P.;
- Haliloglu, Goknur;
- Talim, Beril;
- Akcoren, Zuhal;
- Kariminejad, Ariana;
- Cairns, Anita;
- Clarke, Nigel F.;
- Freckmann, Mary-Louise;
- Romero, Norma B.;
- Williams, Denise;
- Sewry, Caroline A.;
- Colley, Alison;
- Ryan, Monique M.;
- Kiraly-Borri, Cathy;
- Sivadorai, Padma
Publication type:
journal article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Published in:
2011
By:
- Andreucci, Elena;
- Aftimos, Salim;
- Alcausin, Melanie;
- Haan, Eric;
- Hunter, Warwick;
- Kannu, Peter;
- Kerr, Bronwyn;
- McGillivray, George;
- McKinlay Gardner, R J;
- Patricelli, Maria G;
- Sillence, David;
- Thompson, Elizabeth;
- Zacharin, Margaret;
- Zankl, Andreas;
- Lamandé, Shireen R;
- Savarirayan, Ravi
Publication type:
journal article
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Published in:
2017
By:
- Desai, Radha;
- Frazier, Ann E.;
- Durigon, Romina;
- Patel, Harshil;
- Jones, Aleck W.;
- Rosa, Ilaria Dalla;
- Lake, Nicole J.;
- Compton, Alison G.;
- Mountford, Hayley S.;
- Tucker, Elena J.;
- Mitchell, Alice L. R.;
- Jackson, Deborah;
- Sesay, Abdul;
- Di Re, Miriam;
- van den Heuvel, Lambert P.;
- Burke, Derek;
- Francis, David;
- Lunke, Sebastian;
- McGillivray, George;
- Mandelstam, Simone
Publication type:
journal article
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
Published in:
Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17738625
By:
- Coman, David;
- Fullston, Tom;
- Shoubridge, Cheryl;
- Leventer, Richard;
- Wong, Flora;
- Nazaretian, Simon;
- Simpson, Ian;
- Gecz, Josef;
- McGillivray, George
Publication type:
Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
By:
- 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.
Publication type:
Article
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1173
By:
- Gregersen, Pernille A.;
- McKay, Victoria;
- Walsh, Maie;
- Brown, Erica;
- McGillivray, George;
- Savarirayan, Ravi
Publication type:
Article
EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
By:
- Oegema, Renske;
- McGillivray, George;
- Leventer, Richard;
- Le Moing, Anne‐Gaëlle;
- Bahi‐Buisson, Nadia;
- Barnicoat, Angela;
- Mandelstam, Simone;
- Francis, David;
- Francis, Fiona;
- Mancini, Grazia M. S.;
- Savelberg, Sanne;
- Haaften, Gijs;
- Mankad, Kshitij;
- Lequin, Maarten H.
Publication type:
Article
High resolution chromosomal microarray in undiagnosed neurological disorders.
Published in:
Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
By:
- Howell, Katherine B;
- Kornberg, Andrew J;
- Harvey, A Simon;
- Ryan, Monique M;
- Mackay, Mark T;
- Freeman, Jeremy L;
- Rodriguez Casero, M Victoria;
- Collins, Kevin J;
- Hayman, Michael;
- Mohamed, Ahmad;
- Ware, Tyson L;
- Clark, Damian;
- Bruno, Damien L;
- Burgess, Trent;
- Slater, Howard;
- McGillivray, George;
- Leventer, Richard J
Publication type:
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
First Report of Congenital Adrenal Cysts and Pheochromocytoma in a Patient with Mosaic Genome-Wide Paternal Uniparental Disomy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3352, doi. 10.1002/ajmg.a.37959
By:
- White, Mary;
- McGillivray, George;
- White, Sue M.;
- Zacharin, Margaret R.
Publication type:
Article
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 531, doi. 10.1002/ajmg.a.37402
By:
- Hood, Rebecca L.;
- McGillivray, George;
- Hunter, Matthew F.;
- Roberston, Stephen P.;
- Bulman, Dennis E.;
- Boycott, Kym M.;
- Stark, Zornitza
Publication type:
Article
5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2604, doi. 10.1002/ajmg.a.36108
By:
- Brown, Natasha;
- Burgess, Trent;
- Forbes, Robin;
- McGillivray, George;
- Kornberg, Andrew;
- Mandelstam, Simone;
- Stark, Zornitza
Publication type:
Article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
By:
- Reinstein, Eyal;
- Frentz, Sophia;
- Morgan, Tim;
- García-Miñaúr, Sixto;
- Leventer, Richard J;
- McGillivray, George;
- Pariani, Mitchel;
- van der Steen, Anthony;
- Pope, Michael;
- Holder-Espinasse, Muriel;
- Scott, Richard;
- Thompson, Elizabeth M;
- Robertson, Terry;
- Coppin, Brian;
- Siegel, Robert;
- Bret Zurita, Montserrat;
- Rodríguez, Jose I;
- Morales, Carmen;
- Rodrigues, Yuri;
- Arcas, Joaquín
Publication type:
Article
Outcomes of children diagnosed antenatally with sex chromosome aneuploidies.
Published in:
Journal of Paediatrics & Child Health, 2024, v. 60, n. 6, p. 266, doi. 10.1111/jpc.16567
By:
- Angley, Eleanor;
- Grob, Francisca;
- McGillivray, George;
- Archibald, Alison;
- Fawcett, Susan;
- Hui, Lisa;
- Welch, John;
- Zacharin, Margaret;
- White, Mary
Publication type:
Article
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
Published in:
BMC Pediatrics, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12887-021-02809-7
By:
- Hui, Lisa;
- Pynaker, Cecilia;
- Kennedy, Joanne;
- Lewis, Sharon;
- Amor, David J.;
- Walker, Susan P.;
- Halliday, Jane;
- On behalf of the PALM cohort study group;
- Norris, Fiona;
- Gugasyan, Lucy;
- Regan, Matt;
- Vasudevan, Anand;
- Fawcett, Susan;
- McGillivray, George;
- Graetz, Melissa;
- Said, Joanne;
- Begg, Lisa;
- Wapner, Ron;
- Levy, Brynn
Publication type:
Article
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
Published in:
2021
By:
- Hui, Lisa;
- Pynaker, Cecilia;
- Kennedy, Joanne;
- Lewis, Sharon;
- Amor, David J.;
- Walker, Susan P.;
- Halliday, Jane;
- On behalf of the PALM cohort study group;
- Norris, Fiona;
- Gugasyan, Lucy;
- Regan, Matt;
- Vasudevan, Anand;
- Fawcett, Susan;
- McGillivray, George;
- Graetz, Melissa;
- Said, Joanne;
- Begg, Lisa;
- Wapner, Ron;
- Levy, Brynn;
- PALM cohort study group
Publication type:
journal article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.
Published in:
Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r85
By:
- Smith, Katherine R.;
- Bromhead, Catherine J.;
- Hildebrand, Michael S.;
- Eliot Shearer, A .;
- Lockhart, Paul J.;
- Najmabadi, Hossein;
- Leventer, Richard J.;
- McGillivray, George;
- Amor, David J.;
- Smith, Richard J.;
- Bahlo, Melanie
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 Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Published in:
JAMA Pediatrics, 2017, v. 171, n. 9, p. 855, doi. 10.1001/jamapediatrics.2017.1755
By:
- Tiong Yang Tan;
- Dillon, Oliver James;
- Stark, Zornitza;
- Schofield, Deborah;
- Alam, Khurshid;
- Shrestha, Rupendra;
- Belinda Chong;
- Phelan, Dean;
- Brett, Gemma R.;
- Creed, Emma;
- Jarmolowicz, Anna;
- Yap, Patrick;
- Walsh, Maie;
- Downie, Lilian;
- Amor, David J.;
- Savarirayan, Ravi;
- McGillivray, George;
- Yeung, Alison;
- Peters, Heidi;
- Robertson, Susan J.
Publication type:
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
Klinefelter Syndrome: What should we tell prospective parents?
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 2, p. 240, doi. 10.1002/pd.6250
By:
- White, Mary;
- Zacharin, Margaret R.;
- Fawcett, Susan;
- McGillivray, George
Publication type:
Article
Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1305, doi. 10.1002/pd.6024
By:
- Kelley, Joanne;
- McGillivray, George;
- Meagher, Simon;
- Hui, Lisa
Publication type:
Article
Right-sided aortic arch in the age of microarray.
Published in:
2017
By:
- O'Mahony, Edward F.;
- Hutchinson, Darren P.;
- McGillivray, George;
- Nisbet, Debbie L.;
- Palma‐Dias, Ricardo
Publication type:
journal article
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.
Published in:
2015
By:
- Yap, Patrick;
- McGillivray, George;
- Norris, Fiona;
- Said, Joanne M.;
- Kornman, Louise;
- Stark, Zornitza
Publication type:
journal article
Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 2, p. 174, doi. 10.1002/pd.4514
By:
- Staffieri, Sandra E.;
- McGillivray, George;
- Elder, James E.;
- Bristowe, Amber;
- Cole, Stephen;
- McKenzie, John D.;
- Fink, A. Michelle
Publication type:
Article
Apert syndrome: temporal lobe abnormalities on fetal brain imaging.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 2, p. 179, doi. 10.1002/pd.4515
By:
- Stark, Zornitza;
- McGillivray, George;
- Sampson, Amanda;
- Palma‐Dias, Ricardo;
- Edwards, Andrew;
- Said, Joanne M.;
- Whiteley, Gillian;
- Fink, A. Michelle
Publication type:
Article
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 4, p. 389, doi. 10.1002/pd.3849
By:
- McGillivray, George;
- Rosenfeld, Jill A;
- McKinlay Gardner, R. J.;
- Gillam, Lynn H.
Publication type:
Article
Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit.
Published in:
Prenatal Diagnosis, 2010, v. 30, n. 2, p. 149, doi. 10.1002/pd.2431
By:
- Lewis, Sharon;
- McGillivray, George;
- Rowlands, Shelley;
- Halliday, Jane
Publication type:
Article
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
By:
- Ye, Zimeng;
- Lin, Sufang;
- Zhao, Xia;
- Bennett, Mark F.;
- Brown, Natasha J.;
- Wallis, Mathew;
- Gao, Xinyi;
- Sun, Li;
- Wu, Jiarui;
- Vedururu, Ravikiran;
- Witkowski, Tom;
- Gardiner, Fiona;
- Stutterd, Chloe;
- Duan, Jing;
- Mullen, Saul A.;
- McGillivray, George;
- Bodek, Simon;
- Valente, Giulia;
- Reagan, Matthew;
- Yao, Yi
Publication type:
Article
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179
By:
- Beecroft, Sarah J.;
- Ayala, Marcos;
- McGillivray, George;
- Nanda, Vikas;
- Agolini, Emanuele;
- Novelli, Antonio;
- Digilio, Maria C.;
- Dotta, Andrea;
- Carrozzo, Rosalba;
- Clayton, Joshua;
- Gaffney, Lydia;
- McLean, Catriona A.;
- Ng, Jessica;
- Laing, Nigel G.;
- Matteson, Paul;
- Millonig, James;
- Ravenscroft, Gianina
Publication type:
Article
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2021, doi. 10.1002/humu.23836
By:
- Quartier, Angélique;
- Courraud, Jérémie;
- Thi Ha, Thuong;
- McGillivray, George;
- Isidor, Bertrand;
- Rose, Katherine;
- Drouot, Nathalie;
- Savidan, Marie‐Armel;
- Feger, Claire;
- Jagline, Hélène;
- Chelly, Jamel;
- Shaw, Marie;
- Laumonnier, Frédéric;
- Gecz, Jozef;
- Mandel, Jean‐Louis;
- Piton, Amélie
Publication type:
Article
A mutation update on the LDS‐associated genes <italic>TGFB2/3</italic> and <italic>SMAD2/3</italic>.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 621, doi. 10.1002/humu.23407
By:
- Schepers, Dorien;
- Tortora, Giada;
- Morisaki, Hiroko;
- MacCarrick, Gretchen;
- Lindsay, Mark;
- Liang, David;
- Mehta, Sarju G.;
- Hague, Jennifer;
- Verhagen, Judith;
- van de Laar, Ingrid;
- Wessels, Marja;
- Detisch, Yvonne;
- van Haelst, Mieke;
- Baas, Annette;
- Lichtenbelt, Klaske;
- Braun, Kees;
- van der Linde, Denise;
- Roos‐Hesselink, Jolien;
- McGillivray, George;
- Meester, Josephina
Publication type:
Article
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
By:
- Jenkins, Zandra A.;
- Macharg, Alison;
- Chang, Cheng‐Yee;
- van Kogelenberg, Margriet;
- Morgan, Tim;
- Frentz, Sophia;
- Wei, Wenhua;
- Pilch, Jacek;
- Hannibal, Mark;
- Foulds, Nicola;
- McGillivray, George;
- Leventer, Richard J.;
- García‐Miñaúr, Sixto;
- Sugito, Stuart;
- Nightingale, Scott;
- Markie, David M.;
- Dudding, Tracy;
- Kapur, Raj P.;
- Robertson, Stephen P.
Publication type:
Article
Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell‐free DNA era.
Published in:
Australian & New Zealand Journal of Obstetrics & Gynaecology, 2018, v. 58, n. 4, p. 397, doi. 10.1111/ajo.12834
By:
- Rieder, Wawrzyniec;
- White, Scott;
- McGillivray, George;
- Hui, Lisa
Publication type:
Article
Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone.
Published in:
Australian & New Zealand Journal of Obstetrics & Gynaecology, 2016, v. 56, n. 3, p. 225, doi. 10.1111/ajo.12423
By:
- Heland, Sarah;
- Hewitt, Jacqueline K.;
- McGillivray, George;
- Walker, Susan P.
Publication type:
Article
High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.
Published in:
Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 1, p. 46, doi. 10.1111/ajo.12170
By:
- Charan, Poonam;
- Woodrow, Nicole;
- Walker, Sue P.;
- Ganesamoorthy, Devika;
- McGillivray, George;
- Palma ‐ Dias, Ricardo
Publication type:
Article

Found: 38