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Author/Creator Bijlsma, Emilia K

3. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (23rd March 2020)

Authors:
Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose´ H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 9(2020)
Page Start:
1426
Record Type:
Journal Article
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4. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Issue 3 (18th August 2022)

Authors:
McGee, Stacey R; Rajamanickam, Shivakumar; Adhikari, Sandeep; Falayi, Oluwatosin C; Wilson, Theresa A; Shayota, Brian J; Cooley Coleman, Jessica A; Skinner, Cindy; Caylor, Raymond C; Stevenson, Roger E; Quaio, Caio Robledo D' Angioli Costa; Wilke, Berenice Cunha; Bain, Jennifer M; Anyane-Yeboa, K...
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 3(2023)
Page Start:
386
Record Type:
Journal Article
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5. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. Issue 6 (25th May 2012)

Authors:
Santen, Gijs W E; Sun, Yu; Gijsbers, Antoinet C J; Carré, Aurore; Holvoet, Maureen; Haeringen, Arie van; Lesnik Oberstein, Saskia A J; Tomoda, Akemi; Mabe, Hiroyo; Polak, Michel; Devriendt, Koenraad; Ruivenkamp, Claudia A L; Bijlsma, Emilia K
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
366
Record Type:
Journal Article
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6. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Issue 6 (20th April 2011)

Authors:
Slavotinek, Anne M; Baranzini, Sergio E; Schanze, Denny; Labelle-Dumais, Cassandre; Short, Kieran M; Chao, Ryan; Yahyavi, Mani; Bijlsma, Emilia K; Chu, Catherine; Musone, Stacey; Wheatley, Ashleigh; Kwok, Pui-Yan; Marles, Sandra; Fryns, Jean-Pierre; Maga, A Murat; Hassan, Mohamed G; Gould, Dougla...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 6(2011)
Page Start:
375
Record Type:
Journal Article
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7. The clinical significance of small copy number variants in neurodevelopmental disorders. Issue 10 (8th August 2014)

Authors:
Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux,...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
677
Record Type:
Journal Article
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