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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 771, doi. 10.1002/ajmg.a.38083
By:
- Farach, Laura S.;
- Gibson, William T.;
- Sparagana, Steven P.;
- Nellist, Mark;
- Stumpel, Connie T. R. M.;
- Hietala, Marja;
- Friedman, Elliott;
- Pearson, Deborah A.;
- Creighton, Susan P.;
- Wagemans, Annemiek;
- Segel, Reveel;
- Ben‐Shalom, Efrat;
- Au, Kit Sing;
- Northrup, Hope
Publication type:
Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Published in:
PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1006864
By:
- Koemans, Tom S.;
- Kleefstra, Tjitske;
- Chubak, Melissa C.;
- Stone, Max H.;
- Reijnders, Margot R. F.;
- de Munnik, Sonja;
- Willemsen, Marjolein H.;
- Fenckova, Michaela;
- Stumpel, Connie T. R. M.;
- Bok, Levinus A.;
- Sifuentes Saenz, Margarita;
- Byerly, Kyna A.;
- Baughn, Linda B.;
- Stegmann, Alexander P. A.;
- Pfundt, Rolph;
- Zhou, Huiqing;
- van Bokhoven, Hans;
- Schenck, Annette;
- Kramer, Jamie M.
Publication type:
Article
Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels.
Published in:
PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122648
By:
- Houwink, Elisa J. F.;
- Muijtjens, Arno M. M.;
- van Teeffelen, Sarah R.;
- Henneman, Lidewij;
- Rethans, Jan Joost;
- Jacobi, Florijn;
- van der Jagt, Liesbeth;
- Stirbu, Irina;
- van Luijk, Scheltus J.;
- Stumpel, Connie T. R. M.;
- Meijers-Heijboer, Hanne E.;
- van der Vleuten, Cees;
- Cornel, Martina C.;
- Dinant, Geert Jan
Publication type:
Article
Lymphedema in Prader–Willi syndrome.
Published in:
International Journal of Dermatology, 2008, v. 47, p. 42, doi. 10.1111/j.1365-4632.2008.03959.x
By:
- Heitink, Martijn V.;
- Sinnema, Margje;
- van Steensel, Maurice A. M.;
- Schrander-Stumpel, Connie T. R. M.;
- Frank, Jorge;
- Curfs, Leopold M. G.
Publication type:
Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
2019
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
By:
- Blok, Lot Snijders;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68379-3
By:
- Swieringa, Frauke;
- Solari, Fiorella A.;
- Pagel, Oliver;
- Beck, Florian;
- Huang, Jingnan;
- Feijge, Marion A. H.;
- Jurk, Kerstin;
- Körver-Keularts, Irene M. L. W.;
- Mattheij, Nadine J. A.;
- Faber, Jörg;
- Pohlenz, Joachim;
- Russo, Alexandra;
- Stumpel, Connie T. R. M.;
- Schrander, Dirk E.;
- Zieger, Barbara;
- van der Meijden, Paola E. J.;
- Zahedi, René P.;
- Sickmann, Albert;
- Heemskerk, Johan W. M.
Publication type:
Article

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