Conserved co-expression for candidate disease gene prioritization (2008)
Oti, Martin, Van Reeuwijk, Jeroen, Huynen, Martijn A, Brunner, Han G
Abstract Background Genes that are co-expressed tend to be involved in the same biological process. However, co-expression is not a very reliable predictor of functional links between genes. The...
Wissinger,Bernd, Van Driel,Marc A., Hoefsloot,Lies H., De Wijs,Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
Wissinger, Bernd, Van Driel, Marc A., Hoefsloot, Lies H., De Wijs, Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
Maugeri, Alessandra, Flothmann, Kris, Hemmrich, Nadine, Ingvast, Sofie, Jorge, Paula, Paloma, Eva, ...
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., ...
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (SHFM). We performed...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
Celli, Jacopo, Van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, De Córdoba, Santiago Rodríguez, ...
Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED)...
Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...
Tiffin, Nicki, Adie, Euan, Turner, Frances, Brunner, Han G., Van Driel, Marc A., Oti, Martin, ...
Genome-wide experimental methods to identify disease genes, such as linkage analysis and association studies, generate increasingly large candidate gene sets for which comprehensive empirical...
Twigg, Stephen R. F., Matsumoto, Kazuya, Kidd, Alexa M. J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., ...
Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and...
Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., Van der Burgt, Ineke, ...
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the...
Van Bokhoven, Hans, Brunner, Han G.
Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts....
Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, Van Beusekom, Ellen, Van der Zwaag, Bert, ...
Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of...
Veltman, Joris A., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, Van Cleef, Brigitte, ...
Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, and miscarriages. Automated detection of subtle deletions or duplications involving telomeres is essential for...
De Vries, Bert B. A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, ...
Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., ...
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (SHFM). We performed...
Diagnostic Genome Profiling in Mental Retardation
De Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Janssen, Irene M., ...
Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping has a resolution of 5–10 million bases and detects chromosomal alterations in ∼5% of individuals with...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
Celli, Jacopo, Van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, De Córdoba, Santiago Rodríguez, ...
Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED)...
Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...
Twigg, Stephen R. F., Matsumoto, Kazuya, Kidd, Alexa M. J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., ...
Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and...
Tiffin, Nicki, Adie, Euan, Turner, Frances, Brunner, Han G., Van Driel, Marc A., Oti, Martin, ...
Genome-wide experimental methods to identify disease genes, such as linkage analysis and association studies, generate increasingly large candidate gene sets for which comprehensive empirical...
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, ...
A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental retardation, hypotonia, brachycephaly, flat face...
Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, ...
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures...
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E. J., ...
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized...
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
Reeuwijk, Jeroen, Grewal, Prabhjit K., Salih, Mustafa A.M., McLaughlan, Jenny M., Michielse, Caroline B., ...
Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of...
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans
Ferwerda, Bart, McCall, Matthew B. B., Alonso, Santos, Giamarellos-Bourboulis, Evangelos J., Mouktaroudi, Maria, Izagirre, Neskuts, ...
Infectious diseases exert a constant evolutionary pressure on the genetic makeup of our innate immune system. Polymorphisms in Toll-like receptor 4 (TLR4) have been related to susceptibility to...
Conserved co-expression for candidate disease gene prioritization
Oti, Martin, Van Reeuwijk, Jeroen, Huynen, Martijn A, Brunner, Han G
Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, Van Der Zwaag, Bert, Venselaar, Hanka, ...
In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on chromosome 14q24.3–q34.12. Fine mapping with...