J
Jacoba Louw
Researcher at Katholieke Universiteit Leuven
Publications - 21
Citations - 655
Jacoba Louw is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 10, co-authored 18 publications receiving 458 citations.
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Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Yaojuan Jia,Jacoba Louw,Jeroen Breckpot,Bert Callewaert,Catherine Barrea,Yves Sznajer,Marc Gewillig,Erika Souche,Luc Dehaspe,Joris Vermeesch,Diether Lambrechts,Koenraad Devriendt,Anniek Corveleyn +12 more
TL;DR: Target sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance, and six potential disease causing variants in three genes were identified, which may explain the defects in six families.
Journal ArticleDOI
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
TL;DR: Exome sequencing revealed a non‐frameshift deletion (c.998_1000del:p.Arg333del) of three base pairs in the MEIS2 homeodomain, the first report showing a de novo small intragenic mutation in MeIS2 and further confirms the important role of this gene in normal development.
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Percutaneous embolization of lymphatic fistulae as treatment for protein-losing enteropathy and plastic bronchitis in patients with failing Fontan circulation.
Geert Maleux,Emma Storme,Bjorn Cools,Ruth Heying,Derize Boshoff,Jacoba Louw,Stefan Frerich,Sofie Malekzadeh‐Milanii,Jelena Hubrechts,Stephen C. Brown,Stephen C. Brown,Marc Gewillig +11 more
TL;DR: To determine the feasibility and clinical result of selective embolization of hepatoduodenal or paratracheal lymphatics in Fontan patients with protein‐losing enteropathy (PLE) or plastic bronchitis (PB).
Journal ArticleDOI
Treatment strategies for pulmonary sequestration in childhood: resection, embolization, observation?
Stephen C. Brown,Stephen C. Brown,FCPaed Dch,Mark de Laat,M. Proesmans,Kris De Boeck,Dirk Van Raemdonck,Jacoba Louw,Ruth Heying,Bjorn Cools,Benedicte Eyskens,Marc Gewillig +11 more
TL;DR: Both surgery and endovascular embolization are eff ective and safe treatments for pulmonary sequestration.