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1.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Levitin, Maria O; Rawlins, Lettie E; Sanchez-Andrade, Gabriela; Arshad, Osama A; Collins, Stephan C; Sawiak, Stephen J; Iffland, Phillip H; Andersson, Malin H L; Bupp, Caleb; Cambridge, Emma L; Coomber, Eve L; Ellis, Ian; Herkert, Johanna C; Ironfield, Holly; Jory, Logan; Kretz, Perrine F; Kant, Sarina G; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M; Stewart, Helen; Shuen, Andrew Y; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J; Crino, Peter B; Yalcin, Binnaz; Crosby, Andrew H; Baple, Emma L; Logan, Darren W; Hurles, Matthew E; Gerety, Sebastian S.

Brain ; 146(11): 4766-4783, 2023 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-37437211

2.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri, Vito; Seaberg, Raewyn M; Kelly, Catherine; Jean Davidson, M; Raphael, Simon; Shuen, Andrew Y; Baorda, Filomena; Palumbo, Orazio; Scillitani, Alfredo; Hendy, Geoffrey N; Cole, David E C.

BMC Med Genet ; 18(1): 83, 2017 08 03.

Artículo en Inglés | MEDLINE | ID: mdl-28774260

3.

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.

Coughlin, Curtis R; van Karnebeek, Clara D M; Al-Hertani, Walla; Shuen, Andrew Y; Jaggumantri, Sravan; Jack, Rhona M; Gaughan, Sommer; Burns, Casey; Mirsky, David M; Gallagher, Renata C; Van Hove, Johan L K.

Mol Genet Metab ; 116(1-2): 35-43, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26026794

4.

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.

Yeung, K S; Chee, Y Y; Luk, H M; Kan, Anita S Y; Tang, Mary H Y; Lau, Elizabeth T; Shuen, Andrew Y; Lo, Ivan F M; Chan, Kelvin Y K; Chung, Brian H Y.

Am J Med Genet A ; 164A(10): 2521-8, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-25044945

5.

In brief: BRCA1 and BRCA2.

Foulkes, William D; Shuen, Andrew Y.

J Pathol ; 230(4): 347-9, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-23620175

6.

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri, Vito; Seaberg, Raewyn M; Kelly, Catherine; Jean Davidson, M; Raphael, Simon; Shuen, Andrew Y; Baorda, Filomena; Palumbo, Orazio; Scillitani, Alfredo; Hendy, Geoffrey N; Cole, David E C.

BMC Med Genet ; 18(1): 99, 2017 09 13.

Artículo en Inglés | MEDLINE | ID: mdl-28903740

7.

Inherited mutations in breast cancer genes--risk and response.

Shuen, Andrew Y; Foulkes, William D.

J Mammary Gland Biol Neoplasia ; 16(1): 3-15, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21461995

8.

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

Shuen, Andrew Y; Lanni, Stella; Panigrahi, Gagan B; Edwards, Melissa; Yu, Lisa; Campbell, Brittany B; Mandel, Ariane; Zhang, Cindy; Zhukova, Nataliya; Alharbi, Musa; Bernstein, Mark; Bowers, Daniel C; Carroll, Sara; Cole, Kristina A; Constantini, Shlomi; Crooks, Bruce; Dvir, Rina; Farah, Roula; Hijiya, Nobuko; George, Ben; Laetsch, Theodore W; Larouche, Valerie; Lindhorst, Scott; Luiten, Rebecca C; Magimairajan, Vanan; Mason, Gary; Mason, Warren; Mordechai, Oz; Mushtaq, Naureen; Nicholas, Garth; Oren, Michael; Palma, Laura; Pedroza, Luis Alberto; Ramdas, Jagadeesh; Samuel, David; Wolfe Schneider, Kami; Seeley, Andrea; Semotiuk, Kara; Shamvil, Ashraf; Sumerauer, David; Toledano, Helen; Tomboc, Patrick; Wierman, Margaret; Van Damme, An; Lee, Yi-Yen; Zapotocky, Michal; Bouffet, Eric; Durno, Carol; Aronson, Melyssa; Gallinger, Steve.

J Clin Oncol ; 37(6): 461-470, 2019 02 20.

Artículo en Inglés | MEDLINE | ID: mdl-30608896

9.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi, Erfan; Bend, Eric G; Hood, Rebecca L; Schenkel, Laila C; Carere, Deanna Alexis; Chakrabarti, Rana; Nagamani, Sandesh C S; Cheung, Sau Wai; Campeau, Philippe M; Prasad, Chitra; Siu, Victoria Mok; Brady, Lauren; Tarnopolsky, Mark A; Callen, David J; Innes, A Micheil; White, Susan M; Meschino, Wendy S; Shuen, Andrew Y; Paré, Guillaume; Bulman, Dennis E; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Hennekam, Raoul C; Boycott, Kym M; Schwartz, Charles E; Sadikovic, Bekim.

Nat Commun ; 9(1): 4885, 2018 11 20.

Artículo en Inglés | MEDLINE | ID: mdl-30459321

10.

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

Yun, Francisco H J; Wong, Betty Y L; Chase, Maretta; Shuen, Andrew Y; Canaff, Lucie; Thongthai, Kansuda; Siminovitch, Katherine; Hendy, Geoffrey N; Cole, David E C.

Clin Biochem ; 40(8): 551-61, 2007 May.

Artículo en Inglés | MEDLINE | ID: mdl-17320849

11.

Papillomatosis of the hard palate.

Leon, Lucy; Shuen, Andrew Y; Vizirakis, Michael; McCord, Christina.

J Am Dent Assoc ; 150(9): 788-793, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-30898306

12.

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Sabbaghian, Nelly; Bahubeshi, Amin; Shuen, Andrew Y; Kanetsky, Peter A; Tischkowitz, Marc D; Nathanson, Katherine L; Foulkes, William D.

BMC Res Notes ; 6: 127, 2013 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-23547758

13.

Evaluation of the warfarin-resistance polymorphism, VKORC1 Asp36Tyr, and its effect on dosage algorithms in a genetically heterogeneous anticoagulant clinic.

Shuen, Andrew Y; Wong, Betty Y L; Fu, Lei; Selby, Rita; Cole, David E C.

Clin Biochem ; 45(6): 397-401, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22266406

14.

Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus.

Shuen, Andrew Y; Wong, Betty Y L; Wei, Cuihong; Liu, Zhanqin; Li, Mei; Cole, David E C.

Clin Chim Acta ; 409(1-2): 28-32, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19695239

15.

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole, David E C; Yun, Francisco H J; Wong, Betty Y L; Shuen, Andrew Y; Booth, Ronald A; Scillitani, Alfredo; Pidasheva, Svetlana; Zhou, Xiang; Canaff, Lucie; Hendy, Geoffrey N.

J Mol Endocrinol ; 42(4): 331-9, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19179454

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