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Author/Creator Devriendt, Koen

1. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Issue 2 (10th November 2010)

Authors:
Dimitrov, Boyan; Balikova, Irina; de Ravel, Thomy; Van Esch, Hilde; De Smedt, Maryse; Baten, Emiel; Vermeesch, Joris Robert; Bradinova, Irena; Simeonov, Emil; Devriendt, Koen; Fryns, Jean-Pierre; Debeer, Philippe
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
98
Record Type:
Journal Article
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2. A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism. Issue 12 (24th September 2014)

Authors:
De Wolf, Veerle; Crepel, An; Schuit, Frans; van Lommel, Leentje; Ceulemans, Berten; Steyaert, Jean; Seuntjens, Eve; Peeters, Hilde; Devriendt, Koen
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 12(2014.)
Page Start:
3035
Record Type:
Journal Article
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3. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype. Issue 7 (16th July 2018)

Authors:
Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L.; Szelinger, Szabolcs; Parker, Mary E.; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S.; Rangasamy, Sampathk...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1549
Record Type:
Journal Article
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4. A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function. Issue 4 (18th February 2015)

Authors:
Okray, Zeynep; de Esch, Celine EF; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke MS; Hassan, Bassem A
Journal:
EMBO molecular medicine
Issue:
Volume 7:Issue 4(2015:Apr.)
Page Start:
423
Record Type:
Journal Article
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5. Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies. Issue 8 (August 2017)

Authors:
Brison, Nathalie; van den Bogaert, Kris; Dehaspe, Luc; van den Oever, Jessica M. E.; Janssens, Katrien; Blaumeiser, Bettina; Peeters, Hilde; van Esch, Hilde; van Buggenhout, Griet; Vogels, Annick; de Ravel, Thomy; Legius, Eric; Devriendt, Koen; Vermeesch, Joris R.
Journal:
Obstetrical & gynecological survey
Issue:
Volume 72:Issue 8(2017)
Page Start:
Record Type:
Journal Article
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7. Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. (13th July 2019)

Authors:
Vervoort, Lisanne; Demaerel, Wolfram; Rengifo, Laura Y; Odrzywolski, Adrian; Vergaelen, Elfi; Hestand, Matthew S; Breckpot, Jeroen; Devriendt, Koen; Swillen, Ann; McDonald-McGinn, Donna M; Fiksinski, Ania M; Zinkstok, Janneke R; Morrow, Bernice E; Heung, Tracy; Vorstman, Jacob A S; Bassett, Anne ...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 22(2019)
Page Start:
3724
Record Type:
Journal Article
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8. Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia. (25th July 2017)

Authors:
Done, Elisa; Gucciardo, Leonardo; Van Mieghem, Tim; Devriendt, Koen; Allegaert, Karel; Brady, Paul; Devlieger, Roland; De Catte, Luc; Lewi, Liesbeth; Deprest, Jan
Journal:
Prenatal diagnosis
Issue:
Volume 37:Number 9(2017)
Page Start:
883
Record Type:
Journal Article
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10. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009)

Authors:
Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
155
Record Type:
Journal Article
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