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L. Backx · SciRah

Researcher profile · Semantic Scholar

L. Backx

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L. Backx — researcher profile on SciRah

h-index: 13
Works: 29
Citations: 1,223

Most-cited papers

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
B. Menten, N. Maas, B. Thienpont, K. Buysse +16 more
2006Journal of Medical Genetics404 citations Open access
Semantic Scholar
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M. De Gregori, R. Ciccone, P. Magini, T. Pramparo +39 more
2007Journal of Medical Genetics285 citations Open access
Semantic Scholar
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
Dries Castermans, Karolien Volders, A. Crepel, L. Backx +12 more
2010Human Molecular Genetics109 citations Open access
Semantic Scholar
A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum
L. Backx, E. Seuntjens, K. Devriendt, J. Vermeesch +1 more
2010Cytogenetic and Genome Research62 citations
Semantic Scholar
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Michella Ghassibe-Sabbagh, L. Desmyter, Tobias Langenberg, Filip Claes +25 more
2011American Journal of Human Genetics61 citations Open access
Semantic Scholar
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
L. Backx, B. Ceulemans, J. Vermeesch, K. Devriendt +1 more
2009European Journal of Human Genetics52 citations Open access
Semantic Scholar
Array painting using microdissected chromosomes to map chromosomal breakpoints
L. Backx, H. Van Esch, C. Melotte, N. Kosyakova +4 more
2007Cytogenetic and Genome Research48 citations
Semantic Scholar
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
H. Van Esch, R. Colnaghi, K. Freson, P. Starokadomskyy +16 more
2019American Journal of Human Genetics42 citations Open access
Semantic Scholar
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
H. Van Esch, L. Backx, E. Pijkels, J. Fryns
2009European Journal of Medical Genetics39 citations
Semantic Scholar
PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
L. Backx, J. Vermeesch, E. Pijkels, T. de Ravel +2 more
2010European Journal of Medical Genetics37 citations
Semantic Scholar
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
L. Backx, J. Fryns, C. Marcelis, K. Devriendt +2 more
2010American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Direct fluorescent labelling of clones by DOP PCR
L. Backx, R. Thoelen, H. Van Esch, J. Vermeesch
2008Molecular Cytogenetics17 citations Open access
Semantic Scholar
Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
J. Melo, L. Backx, J. Vermeesch, H. Santos +6 more
2011Journal of Applied Genetics14 citations
Semantic Scholar
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy
I. Carreira, J. Melo, C. Rodrigues, L. Backx +5 more
2009Molecular Cytogenetics9 citations Open access
Semantic Scholar
Molecular Cytogenetic Characterization of Two Cases with de novo Small Mosaic Supernumerary Marker Chromosomes Derived from Chromosome 16: Towards a Genotype/Phenotype Correlation
J. Melo, Eunice Matoso, A. Polityko, J. Saraiva +6 more
2009Cytogenetic and Genome Research5 citations
Semantic Scholar
FAF1, the First Gene Associated with Cleft Palate
M. Ghassibé, L. Desmyter, Tobias Langenberg, Karlien Hermans +15 more
20111 citations
Semantic Scholar
Fas-associated factor-1, a protein involved in apoptosis, causes cleft lip and palate
M. Ghassibé, L. Desmyter, Filip Claes, O. Boute +11 more
20081 citations
Semantic Scholar
Supplementary Material for: A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum
L. Backx, E. Seuntjens, K. Devriendt, J. Vermeesch +1 more
20170 citations
Semantic Scholar
A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum
L. Backx, Eve Seuntjens, Koenraad Devriendt, J. Vermeesch +1 more
20110 citations
Semantic Scholar
Mutation in POLA1 in a family with X-linked syndromic mental retardation
L. Backx, E. Seuntjens, A. Crepel, K. Devriendt +1 more
20100 citations
Semantic Scholar
Implementation of array painting for the identification of candidate genes for (non-)syndromic intellectual disability
L. Backx
20100 citations
Semantic Scholar
Multicolour FISH versus array CGH techniques. Which to choose for the characterization of small supernumerary marker chromosomes
J. Melo, N. Kosyakova, T. Liehr, L. Backx +2 more
20090 citations
Semantic Scholar
Molecular cytogenetic characterization of four new cases with a small supernumerary marker chromosome derived from chromosome 16
M. Ziegler, J. Melo, I. Carreira, A. Polityko +9 more
20090 citations
Semantic Scholar
Molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 11 in a mother and a child with distinct phenotypes
J. Melo, E. Matoso, Lima, L. Backx +4 more
20080 citations
Semantic Scholar
FAF1 a new gene for Cleft Palate and Pierre-Robin sequence
M. Ghassibé, L. Desmyter, O. Boutte, B. Bayket +7 more
20070 citations
Semantic Scholar
O4: Detection of structural low-grade mosaicism by array CGH
B. Thienpont, N. Maas, B. Menten, K. Buysse +16 more
20050 citations
Semantic Scholar
Optimizing and automating direct fluorescent labelling of BAC clones by DOP PCR
L. Backx, C. Melotte, R. Thoelen, H. Van Esch +1 more
20050 citations
Semantic Scholar
O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening
B. Menten, K. Buysse, N. Maas, B. Thienpont +16 more
20050 citations
Semantic Scholar
O9: Array CGH using microdissected chromosomes to map chromosomal breakpoints
L. Backx, H. Van Esch, C. Melotte, N. Kosyakova +3 more
20050 citations
Semantic Scholar

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