Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.
Published in Clinical genetics (01.02.2014)
Published in Clinical genetics (01.02.2014)
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Journal Article
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Hanchard, NA, Murdock, DR, Magoulas, PL, Bainbridge, M, Muzny, D, Wu, YQ, Wang, M, McGuire, AL, Lupski, JR, Gibbs, RA, Brown, CW
Published in Clinical genetics (01.05.2013)
Published in Clinical genetics (01.05.2013)
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
Probst, F J, James, R A, Burrage, L C, Rosenfeld, J A, Bohan, T P, Ward Melver, C H, Magoulas, P, Austin, E, Franklin, A I A, Azamian, M, Xia, F, Patel, A, Bi, W, Bacino, C, Belmont, J W, Ware, S M, Shaw, C, Cheung, S W, Lalani, S R
Published in Orphanet journal of rare diseases (14.06.2015)
Published in Orphanet journal of rare diseases (14.06.2015)
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Journal Article
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Journal Article
P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype
Neuhaus, S., Konersman, C., Saade, D., Donkervoort, S., Ceulemans, S., Magoulas, P., Skalsky, A., Friedman, J., Malicki, D., Bainbridge, M., Shimul, C., Nahas, S., Dimmock, D., Kingsmore, S., Gleeson, J., Lotze, T., Foley, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
Darilek, Sandra, Ward, Patricia, Pursley, Amber, Plunkett, Katie, Furman, Patti, Magoulas, Pilar, Patel, Ankita, Cheung, Sau Wai, Eng, Christine M.
Published in Genetics in medicine (01.01.2008)
Published in Genetics in medicine (01.01.2008)
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Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
Lin, Angela E., Basson, Craig T., Goldmuntz, Elizabeth, Magoulas, Pilar L., McDermott, Deborah A., McDonald-McGinn, Donna M., McPherson, Elspeth, Morris, Colleen A., Noonan, Jacqueline, Nowak, Catherine, Pierpont, Mary Ella, Pyeritz, Reed E., Rope, Alan F., Zackai, Elaine, Pober, Barbara R.
Published in Genetics in medicine (01.07.2008)
Published in Genetics in medicine (01.07.2008)
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