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Liesbeth Rooms

Research Profile

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Publications

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Zafar Iqbal; Jamie M Kramer; Bonnie Nijhof; Hilde Peeters; Sheikh Riazuddin; Laura Tomas Roca; Muhammad Ansar; Judith A Besseling; Arjan P M de Brouwer; R Frank Kooy; Christian Gilissen; Céline Helsmoortel; Annette Schenck; Hans van Bokhoven; Nathalie Van der Aa; Monique van der Voet; Geert Vandeweyer; Joris A Veltman; Lisenka E L M Vissers; Anneke T Vulto-van Silfhout; Ali Muhammad Waryah; Muhammad Yasir Zahoor; Liesbeth Rooms
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Nathalie Van der Aa; Geert Vandeweyer; Lina Dom; Sandra Kenis; Geert Mortier; Edwin Reyniers; Liesbeth Rooms; R Frank Kooy
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Geert Vandeweyer; Berten Ceulemans; Liesbeth Rooms; Bregje W M van Bon; Nathalie Van der Aa; R Frank Kooy
A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.

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All Publications

2013: Zafar Iqbal; Jamie M Kramer; Bonnie Nijhof; Hilde Peeters; Sheikh Riazuddin; Laura Tomas Roca; Muhammad Ansar; Judith A Besseling; Arjan P M de Brouwer; R Frank Kooy; Christian Gilissen; Céline Helsmoortel; Annette Schenck; Hans van Bokhoven; Nathalie Van der Aa; Monique van der Voet; Geert Vandeweyer; Joris A Veltman; Lisenka E L M Vissers; Anneke T Vulto-van Silfhout; Ali Muhammad Waryah; Muhammad Yasir Zahoor; Liesbeth Rooms
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Human molecular genetics 2013;22(10):1960-70.
2012: Nathalie Van der Aa; Geert Vandeweyer; Lina Dom; Sandra Kenis; Geert Mortier; Edwin Reyniers; Liesbeth Rooms; R Frank Kooy
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Autism research : official journal of the International Society for Autism Research 2012;5(4):277-81.
2012: Geert Vandeweyer; Berten Ceulemans; Liesbeth Rooms; Bregje W M van Bon; Nathalie Van der Aa; R Frank Kooy
A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.
Epilepsy research 2012;99(3):346-9.
2011: Liesbeth Rooms; R Frank Kooy
Advances in understanding fragile X syndrome and related disorders.
Current opinion in pediatrics 2011;23(6):601-6.
2011: Liesbeth Rooms; Geert Vandeweyer; Edwin Reyniers; Kurt van Mol; Ilse de Canck; Nathalie Van der Aa; Rudi Rossau; R Frank Kooy
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
American journal of medical genetics. Part A 2011;155A(2):343-8.
2011: Geert Vandeweyer; Edwin Reyniers; Wim Wuyts; Liesbeth Rooms; R Frank Kooy
CNV-WebStore: online CNV analysis, storage and interpretation.
BMC bioinformatics 2011;12():4.
2010: Inge Heulens; Charlotte D'Hulst; Sien Braat; Liesbeth Rooms; R Frank Kooy
Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome.
TheScientificWorldJournal 2010;10():2198-206.
2009: Nathalie Van der Aa; Liesbeth Rooms; Geert Vandeweyer; Jenneke van den Ende; Edwin Reyniers; Marco Fichera; Corrado Romano; Barbara Delle Chiaie; Geert R Mortier; Björn Menten; Anne Destrée; Isabelle Maystadt; Katrin Männik; Ants Kurg; Tiia Reimand; Dom McMullan; Christine Oley; Louise Brueton; Ernie M H F Bongers; Bregje W M van Bon; Rolph Pfund; Sebastien Jacquemont; Alessandra Ferrarini; Danielle Martinet; Connie Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints; Bert B A de Vries; Berten Ceulemans; R Frank Kooy
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
European journal of medical genetics 2009;52(2-3):94-100.
2008: David A Koolen; Erik A Sistermans; Willy Nilessen; Samantha J L Knight; Regina Regan; Yan T Liu; R Frank Kooy; Liesbeth Rooms; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt-Marie Anderlid; Jacqueline Schoumans; Ad Geurts van Kessel; Magnus Nordenskjold; Bert B A de Vries
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
European journal of human genetics : EJHG 2008;16(3):395-400.
2007: Winnie Courtens; Jan Wauters; Marek Wojciechowski; Edwin Reyniers; Stefaan Scheers; Rob van Luijk; Liesbeth Rooms; Frank Kooy; Wim Wuyts
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Clinical dysmorphology 2007;16(4):231-9.
2007: Martin Poot; Hester Y Kroes; Suzanne E V D Wijst; Marc J Eleveld; Liesbeth Rooms; Rutger A J Nievelstein; Daniel Olde Weghuis; Rene C Vreuls; Gerard Hageman; Frank Kooy; Ron Hochstenbach
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).
American journal of medical genetics. Part A 2007;143A(10):1038-44.
2007: Liesbeth Rooms; Edwin Reyniers; R Frank Kooy
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
Human mutation 2007;28(2):177-82.
2006: Liesbeth Rooms; Edwin Reyniers; Stefaan Scheers; Rob van Luijk; Jan Wauters; Leen Van Aerschot; Zsuzsanna Callaerts-Vegh; Rudi D'Hooge; Mengus Gabrielle; Irwin Davidson; Winnie Courtens; R Frank Kooy
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
European journal of human genetics : EJHG 2006;14(10):1090-6.
2006: Winnie Courtens; Wim Wuyts; Stefaan Scheers; Rob van Luijk; Edwin Reyniers; Liesbeth Rooms; Berten Ceulemans; Frank Kooy; Jan Wauters
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
European journal of medical genetics 2006;49(5):402-13.
2006: Winnie Courtens; Wim Wuyts; Liesbeth Rooms; Sarah Barbera Pera; Jan Wauters
A subterminal deletion of the long arm of chromosome 10: a clinical report and review.
American journal of medical genetics. Part A 2006;140(4):402-9.
2006: Liesbeth Rooms; Edwin Reyniers; Wim Wuyts; Katrien Storm; Rob van Luijk; Stefaan Scheers; Jan Wauters; Jenneke van den Ende; Martine Biervliet; F Eyskens; Gert Van Goethem; Annick Laridon; Berten Ceulemans; Winnie Courtens; R Frank Kooy
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
Clinical genetics 2006;69(1):58-64.
2005: Liesbeth Rooms; Edwin Reyniers; R Frank Kooy
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.
Human mutation 2005;25(6):513-24.
2005: Yolande van Bever; Liesbeth Rooms; Annick Laridon; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; R Frank Kooy
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
American journal of medical genetics. Part A 2005;135(1):91-5.
2004: Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; R Frank Kooy
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.
Annales de génétique 2004;47(1):53-9.
2004: Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; Berten Ceulemans; Jenneke van den Ende; Yolande van Bever; R Frank Kooy
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
Human mutation 2004;23(1):17-21.