OpenURL Connection Search

Select item for more details and to access through your institution.

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
By:
- 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
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
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.
Published in:
2006
By:
- Tan TY;
- Amor DJ;
- Tan, Tiong Y;
- Amor, David J
Publication type:
journal article
Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice.
Published in:
Journal of Paediatrics & Child Health, 2006, v. 42, n. 9, p. 486, doi. 10.1111/j.1440-1754.2006.00908.x
By:
- Tan, Tiong Y.;
- Amor, David J.
Publication type:
Article
The novel <italic>RAF1</italic> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 470, doi. 10.1002/ajmg.a.38569
By:
- Harms, Frederike L.;
- Alawi, Malik;
- Amor, David J.;
- Tan, Tiong Y.;
- Cuturilo, Goran;
- Lissewski, Christina;
- Brinkmann, Julia;
- Schanze, Denny;
- Kutsche, Kerstin;
- Zenker, Martin
Publication type:
Article
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177
By:
- Stark, Zornitza;
- Behrsin, Joanna;
- Burgess, Trent;
- Ritchie, Anna;
- Yeung, Alison;
- Tan, Tiong Y.;
- Brown, Natasha J.;
- Savarirayan, Ravi;
- Patel, Neil
Publication type:
Article
Clinical Comparison of Overlapping Deletions of 19p13.3.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
By:
- Risheg, Hiba;
- Pasion, Romela;
- Sacharow, Stephanie;
- Proud, Virginia;
- Immken, LaDonna;
- Schwartz, Stuart;
- Tepperberg, Jim H.;
- Papenhausen, Peter;
- Tan, Tiong Y.;
- Andrieux, Joris;
- Plessis, Ghislaine;
- Amor, David J.;
- Keitges, Elisabeth A.
Publication type:
Article
The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong.
Published in:
PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109629
By:
- 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.
Publication type:
Article
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
Published in:
Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3
By:
- Dimasi, David P.;
- Chen, Jern Y.;
- Hewitt, Alex W.;
- Klebe, Sonja;
- Davey, Richard;
- Stirling, John;
- Thompson, Elizabeth;
- Forbes, Robin;
- Tan, Tiong Y.;
- Savarirayan, Ravi;
- Mackey, David A.;
- Healey, Paul R.;
- Mitchell, Paul;
- Burdon, Kathryn P.;
- Craig, Jamie E.
Publication type:
Article
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0053-8
By:
- Clark, Michelle M.;
- Stark, Zornitza;
- Farnaes, Lauge;
- Tan, Tiong Y.;
- White, Susan M.;
- Dimmock, David;
- Kingsmore, Stephen F.
Publication type:
Article
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.
Published in:
Sexual Development, 2019, v. 13, n. 1, p. 26, doi. 10.1159/000494896
By:
- Backhouse, Brendan;
- Hanna, Chloe;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Pelosi, Emanuele;
- Simons, Cas;
- Koopman, Peter;
- Juniarto, a. Zulfa;
- Grover, Sonia;
- Faradz, Sultana;
- Sinclair, andrew;
- ayers, Katie;
- Tan, Tiong Y.
Publication type:
Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
By:
- 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
Publication type:
Article
Questionable pathogenicity of FOXG1 duplication.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 595, doi. 10.1038/ejhg.2011.267
By:
- Amor, David J;
- Burgess, Trent;
- Tan, Tiong Y;
- Pertile, Mark D
Publication type:
Article
Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32.
Published in:
Case Reports in Perinatal Medicine, 2013, v. 2, n. 1/2, p. 39, doi. 10.1515/crpm-2012-0032
By:
- Shek, Noel W.M.;
- Tan, Tiong Y.;
- Ding, Simon C.K.;
- Chung, Brian H.Y.;
- Lau, Elizabeth T.K.;
- Tang, Mary H.Y.
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
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 19, doi. 10.1002/humu.24135
By:
- 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
Publication type:
Article
Cerebral hypomyelination associated with biallelic variants of FIG4.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 619, doi. 10.1002/humu.23720
By:
- Lenk, Guy M.;
- Berry, Ian R.;
- Stutterd, Chloe A.;
- Blyth, Moira;
- Green, Lydia;
- Vadlamani, Gayatri;
- Warren, Daniel;
- Craven, Ian;
- Fanjul‐Fernandez, Miriam;
- Rodriguez‐Casero, Victoria;
- Lockhart, Paul J.;
- Vanderver, Adeline;
- Simons, Cas;
- Gibb, Susan;
- Sadedin, Simon;
- White, Susan M.;
- Christodoulou, John;
- Skibina, Olga;
- Ruddle, Jonathan;
- Tan, Tiong Y.
Publication type:
Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
Published in:
Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
By:
- 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;
- Heyningen, Veronica;
- Amiel, Jeanne;
- FitzPatrick, David;
- Kleinjan, Dirk A.;
- Visel, Axel;
- Lyonnet, Stanislas
Publication type:
Article
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.
Published in:
Molecular Syndromology, 2016, v. 7, n. 6, p. 312, doi. 10.1159/000450533
By:
- Farlie, Peter G.;
- Baker, Naomi L.;
- Yap, Patrick;
- Tan, Tiong Y.
Publication type:
Article
A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development.
Published in:
Molecular Syndromology, 2014, v. 5, n. 6, p. 276, doi. 10.1159/000368865
By:
- 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.
Publication type:
Article

Found: 20