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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, S.
;
Shaw, M.
;
Mignot, C.
;
Héron, D.
;
Bastaraud, S.C.
;
Walti, C.C.
;
Liebelt, J.
;
Elmslie, F.
;
Yap, P.
;
Hurst, J.
;
Forsythe, E.
;
Kirmse, B.
;
Ozmore, J.
;
Spinelli, A.M.
;
Calabrese, O.
;
de Villemeur, T.B.
;
Tabet, A.C.
;
Levy, J.
;
Guet, A.
;
Kossorotoff, M.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2007
The generalizability of the Youth Self-Report syndrome structure in 23 societies
Ivanova, M.
;
Achenbach, T.
;
Dumenci, L.
;
Bilenberg, N.
;
Broberg, A.
;
Dopfner, M.
;
Forns, M.
;
Kanbayashi, Y.
;
Leung, P.
;
Mulatu, M.
;
Oh, K.
;
Sawyer, M.
;
Steinhausen, H.
;
Metzke, C.
;
Zilber, N.
;
Verhulst, F.
;
Rescorla, L.
;
Almqvist, F.
;
Bird, H.
;
Dobrean, A.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Kazenwadel, J.
;
Secker, G.
;
Liu, Y.
;
Rosenfeld, J.
;
Wildin, R.
;
Cuellar-Rodriguez, J.
;
Hsu, A.
;
Dyack, S.
;
Fernandez, C.
;
Chong, C.
;
Babic, M.
;
Bardy, P.
;
Shimamura, A.
;
Zhang, M.
;
Walsh, T.
;
Holland, S.
;
Hickstein, D.
;
Horwitz, M.
;
Hahn, C.
;
Scott, H.
;
et al.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2019
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Mucha, B.E.
;
Banka, S.
;
Ajeawung, N.F.
;
Molidperee, S.
;
Chen, G.G.
;
Koenig, M.K.
;
Adejumo, R.B.
;
Till, M.
;
Harbord, M.
;
Perrier, R.
;
Lemyre, E.
;
Boucher, R.M.
;
Skotko, B.G.
;
Waxler, J.L.
;
Thomas, M.A.
;
Hodge, J.C.
;
Gecz, J.
;
Nicholl, J.
;
McGregor, L.
;
Linden, T.
;
et al.
Discover
Author
4
Gecz, J.
2
Bernier, R.
2
Haan, E.
2
Hackett, A.
2
Kleefstra, T.
1
Achenbach, T.
1
Adejumo, R.B.
1
Ades, L.
1
Ahmed, S.
1
Ajeawung, N.F.
.
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Subject
9
Male
8
Adult
8
Female
7
Adolescent
5
Child, Preschool
4
Intellectual Disability
4
Pedigree
3
Membrane Proteins
3
Microcephaly
3
Mutation
.
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Date issued
1
2020 - 2021
4
2010 - 2019
3
2000 - 2009
1
1997 - 1999