Research Explorer

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Researcher

Karen Buysse

23 Results

2011

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBARBARA DELLE CHIAIESandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

2010

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Karen BuysseSarah VergultSilke MusscheChantal Ceuterick-De GrooteFranki SpelemanBjörn MentenWilly LissensRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Toepassing van microarray-analyse in de genetische diagnostiek

Björn MentenKaren BuysseGeert MortierAnne De PaepeFranki Speleman

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2009

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn MentenKatrien SwertsBARBARA DELLE CHIAIESandra JanssensKaren BuysseJan PhilippéFranki Speleman

A1 Journal Article in BMC MEDICAL GENETICS

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBARBARA DELLE CHIAIERudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haeneC AttanasioDIANE BEYSENJ DostieE LemireP BouchardM FieldK JonesB LorenzBjörn MentenKaren BuysseFilip PattynM FriedliC UclaC RossierC WyssFranki SpelemanAnne De PaepeJ DekkerSE AntonarakisElfride De Baere

A1 Journal Article in PLOS GENETICS

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

Megan L. LandsverkElizabeth K. RuzzoHeather C. MeffordKaren BuysseJillian G. BuchanEvan E. EichlerElizabeth M. PettyEsther A. PetersonDana M. KnutzenKaren BarnettMartin FarlowJudy CaressGareth J. ParryDianna QuanKathy L. GardnerMing HongZachary SimmonsThomas D. BirdPhillip F. ChanceMark C. Hannibal

A1 Journal Article in HUMAN MOLECULAR GENETICS

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)

Karen BuysseA CrepelBjörn MentenFilip PattynF AntonacciJA VeltmanLA LarsenZ TumerA de KleinI van de LaarK DevriendtGeert MortierFranki Speleman

Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation

Karen BuysseFranki SpelemanGeert Mortier

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Karen BuysseWilliam ReardonLakshmi MehtaTeresa CostaCarrie FagerstromDaniel J KingsburyGeorge AnadiotisBarbara C McGillivrayJAN HELLEMANSNicole de LeeuwBert BA de VriesFranki SpelemanBjörn MentenGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2008

Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten bij kinderen met mentale retardatie en aangeboren afwijkingen

Björn MentenKaren BuysseGeert MortierFranki Speleman

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Copy number alterations and copy number variation in cancer: close encounters of the bad kind

Franki SpelemanCandy KumpsKaren BuysseBruce PoppeBjörn MentenKatleen De Preter

A1 Journal Article in CYTOGENETIC AND GENOME RESEARCH

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Karen BuysseBjörn MentenAnn OostraSylvie TavernierGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

Karen BuysseA CREPELBjörn MentenFilip PattynF ANTONACCIJ VELTMANL LARSENZ TüMERA DE KLEINI VAN DE LAARK DEVRIENDTGeert MortierFranki Speleman

A1 Journal Article in Journal of Medical Genetics

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

HC MEFFORDAJ SHARPC BAKERA ITSARAZS JIANGKaren BuysseSW HUANGVK MALONEYJA CROLLAD BARALLEA COLLINSC MERCERK NORGAT DE RAVELK DEVRIENDTEMHF BONGERSN DE LEEUWW REARDONS GIMELLIF BENARC HENNEKAMA MALEL GAUNTJ CLAYTON-SMITHI SIMONICSM PARKSG MEHTAS NIK-ZAINALCG WOODSHV FIRTHG PARKINM FICHERAS REITANOM LO GIUDICEKE LII CASUGAA BROOMERB CONRADM SCHWERZMANNL RABERS GALLATIP STRIANOA COPPOLAJL TOLMIEES TOBIASC LILLEYL ARMENGOLY SPYSSCHAERTP VERLOOA DE COENEL GOOSSENSGeert MortierFranki SpelemanE VAN BINSBERGENMR NELENR HOCHSTENBACHM POOTL GALLAGHERM GILLJ MCCLELLANMC KINGR REGANC SKINNERRE STEVENSONSE ANTONARAKISCF CHENX ESTIVILLBjörn MentenG GIMELLIS GRIBBLES SCHWARTZJS SUTCLIFFET WALSHSJL KNIGHTJ SEBATC ROMANOCE SCHWARTZJA VELTMANBBA DE VRIESJR VERMEESCHJCK BARBERL WILLATTM TASSABEHJIEE EICHLER

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

2007

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn MentenKaren BuysseF ZAHIRJAN HELLEMANSSJ HAMILTONT COSTAC FAGERSTROMG ANADIOTISD KINGSBURYBC MCGILLIVRAYMA MARRAJM FRIEDMANFranki SpelemanGeert Mortier

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements

Karen BuysseBjörn MentenF ANTONACCIJA VELTMANLA LARSENZ TUMERGeert MortierFranki Speleman

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

Björn MentenKaren BuysseStefan VermeulenValerie MeersschautJo VandesompeleBL NGNP CARTERGeert MortierFranki Speleman

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2006

Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten

Björn MentenKaren BuysseGeert MortierFranki Speleman

A4 Journal Article in DE AGENDA PEDIATRIE (BRUSSEL)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn MentenN MAASB THIENPONTKaren BuysseJo VandesompeleC MELOTTET DE RAVELS VAN VOORENI BALIKOVAL BACKXSandra JanssensAnne De PaepeB DE MOORY MOREAUP MARYNENJP FRYNSGeert MortierK DEVRIENDTFranki SpelemanJR VERMEESCH

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2005

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Björn MentenKaren BuysseJo VandesompeleEls De SmetAnne De PaepeFranki SpelemanGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Björn MentenFilip PattynKatleen De PreterPiet RobbrechtEvi MichelsKaren BuysseGeert MortierAnne De PaepeSteven van VoorenJoris VermeeschYves MoreauBart De MoorStefan VermeulenFranki SpelemanJo Vandesompele

A1 Journal Article in BMC BIOINFORMATICS