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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
Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2460, doi. 10.1002/ajmg.a.62851
By:
- Alburaiky, Salam;
- Taylor, Juliet;
- O'Grady, Gina;
- Thomson, Glen;
- Perry, David;
- England, Eleina M.;
- Yap, Patrick
Publication type:
Article
A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1299, doi. 10.1002/ajmg.a.62631
By:
- Sibbin, Kristina;
- Yap, Patrick;
- Nyaga, Denis;
- Heller, Raoul;
- Evans, Stephen;
- Strachan, Kate;
- Alburaiky, Salam;
- Nguyen, Han M.;
- Hermann‐Le Denmat, Sylvie;
- Ganley, Austen R. D.;
- O'Sullivan, Justin M.;
- Bloomfield, Frank H.
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
Emerging targeted drug therapies in skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2596, doi. 10.1002/ajmg.a.37734
By:
- Yap, Patrick;
- Savarirayan, Ravi
Publication type:
Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
By:
- Yap, Patrick;
- Liebelt, Jan E.;
- Amor, David J.;
- Moore, Lynette;
- Savarirayan, Ravi
Publication type:
Article
Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0058-3
By:
- Lawrence, Ben;
- Blenkiron, Cherie;
- Parker, Kate;
- Tsai, Peter;
- Fitzgerald, Sandra;
- Shields, Paula;
- Robb, Tamsin;
- Yeong, Mee Ling;
- Kramer, Nicole;
- James, Sarah;
- Black, Mik;
- Fan, Vicky;
- Poonawala, Nooriyah;
- Yap, Patrick;
- Coats, Esther;
- Woodhouse, Braden;
- Ramsaroop, Reena;
- Yozu, Masato;
- Robinson, Bridget;
- Henare, Kimiora
Publication type:
Article
A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.
Published in:
Pediatric Dermatology, 2022, v. 39, n. 2, p. 268, doi. 10.1111/pde.14939
By:
- Gordon, Helen;
- Yap, Patrick;
- Hsiao, Kuang‐Chih;
- Watson, Michael;
- Purvis, Diana
Publication type:
Article
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136
By:
- Shoubridge, Cheryl;
- Dudding‐Byth, Tracy;
- Pasquier, Laurent;
- Goel, Himanshu;
- Yap, Patrick;
- McConnell, Vivienne
Publication type:
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
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
Published in:
2016
By:
- Yap, Patrick;
- Super, Leanne;
- Qin, Jinyi;
- Burgess, Trent;
- Prodanovic, Zdenka;
- Edwards, Caitlin;
- Thomas, Rosemary;
- Carpenter, Karen;
- Tan, Tiong Yang
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
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

Found: 13