Published in Am J Hum Genet on May 06, 2010
Evolution of Darwin's finches and their beaks revealed by genome sequencing. Nature (2015) 2.50
Regions of homozygosity and their impact on complex diseases and traits. Hum Genet (2010) 1.30
Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet (2011) 1.28
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet (2010) 1.03
Whole-genome resequencing of Hanwoo (Korean cattle) and insight into regions of homozygosity. BMC Genomics (2013) 1.02
Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico. Front Physiol (2015) 0.93
Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules. Dev Biol (2012) 0.91
Sub-circuits of a gene regulatory network control a developmental epithelial-mesenchymal transition. Development (2014) 0.90
Molars and incisors: show your microarray IDs. BMC Res Notes (2013) 0.87
Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene. Evol Dev (2011) 0.85
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst (2012) 0.84
Divergence and gene flow among Darwin's finches: A genome-wide view of adaptive radiation driven by interspecies allele sharing. Bioessays (2015) 0.83
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. Mol Autism (2014) 0.81
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. J Turk Ger Gynecol Assoc (2013) 0.80
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol (2015) 0.79
Molecular basis of cleft palates in mice. World J Biol Chem (2015) 0.78
Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease. Cell Mol Neurobiol (2011) 0.78
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet (2013) 0.78
Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. Birth Defects Res A Clin Mol Teratol (2012) 0.77
Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse. Birth Defects Res A Clin Mol Teratol (2014) 0.76
Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly. BMC Med Genet (2011) 0.76
ALX1 promotes migration and invasion of lung cancer cells through increasing snail expression. Int J Clin Exp Pathol (2015) 0.76
Darwin's finches join genome club. Nature (2015) 0.75
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Am J Hum Genet (2016) 0.75
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology. Mol Syndromol (2016) 0.75
microRNA-31 modulates skeletal patterning in the sea urchin embryo. Development (2015) 0.75
Transcriptome profiling reveals expression signatures of cranial neural crest cells arising from different axial levels. BMC Dev Biol (2017) 0.75
Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge. Biomed Res Int (2016) 0.75
Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development. Sci Rep (2017) 0.75
Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis. Dev Biol (2017) 0.75
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res (2005) 11.02
Classification and nomenclature of all human homeobox genes. BMC Biol (2007) 2.61
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A (2004) 2.01
Human tails and pseudotails. Hum Pathol (1984) 1.88
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet (1994) 1.72
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. Clin Dysmorphol (2001) 1.64
Frontonasal dysplasia. J Pediatr (1970) 1.62
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS One (2009) 1.56
Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nat Genet (1996) 1.54
Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development (2001) 1.42
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet (1987) 1.38
Homeodomain revisited: a lesson from disease-causing mutations. Hum Genet (2005) 1.18
ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet (2009) 1.12
Vertebrate aristaless-related genes. Int J Dev Biol (1999) 1.10
Cartilage homeoprotein 1, a homeoprotein selectively expressed in chondrocytes. Proc Natl Acad Sci U S A (1993) 1.09
The gene for the homeodomain-containing protein Cart-1 is expressed in cells that have a chondrogenic potential during embryonic development. Mech Dev (1994) 1.03
Neural tube defects. Pediatr Clin North Am (2004) 1.00
Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. Am J Med Genet A (2004) 0.92
The human tail: a benign stigma. Case report. J Neurosurg (1985) 0.89
Frontonasal malformation as a field defect and in syndromic associations. Oral Surg Oral Med Oral Pathol (1988) 0.89
Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. Am J Med Genet (1984) 0.86
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. Clin Dysmorphol (1998) 0.82
Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis. Clin Dysmorphol (1995) 0.82
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. Am J Med Genet (1997) 0.81
Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. Am J Med Genet Suppl (1986) 0.81
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. Genet Couns (2008) 0.80
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. Clin Dysmorphol (2000) 0.79
Apparently new "anophthalmia-plus" syndrome in sibs. Am J Med Genet (1995) 0.78
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. Genet Couns (2005) 0.78
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation (2007) 4.37
EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell (2003) 4.33
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet (2002) 3.43
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
p300/CBP and cancer. Oncogene (2004) 3.13
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) (2005) 3.01
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes. Oncogene (2005) 2.05
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Specific miRNA signatures are associated with metastasis and poor prognosis in clear cell renal cell carcinoma. World J Urol (2011) 1.72
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
CD70: a new tumor specific biomarker for renal cell carcinoma. J Urol (2005) 1.67
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Protein profiles of bronchoalveolar lavage fluid from patients with pulmonary sarcoidosis. Am J Respir Crit Care Med (2006) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet (2012) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment. J Pediatr (2005) 1.53
p300 regulates p53-dependent apoptosis after DNA damage in colorectal cancer cells by modulation of PUMA/p21 levels. Proc Natl Acad Sci U S A (2004) 1.53
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet A (2004) 1.48
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis (2014) 1.47
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer (2009) 1.46
Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol (2003) 1.44
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet (2009) 1.43
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet (2012) 1.43
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Regulation of the anaphase-promoting complex by the COP9 signalosome. Cell Cycle (2009) 1.40
Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis (2009) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Two different del(5q) clones in a patient with myelodysplastic syndrome. Leuk Lymphoma (2011) 1.39
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet (2010) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
A mutation screen in patients with Kabuki syndrome. Hum Genet (2011) 1.36
The evolution of sagittal segmental alignment of the spine during childhood. Spine (Phila Pa 1976) (2005) 1.35
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones. Int J Oncol (2010) 1.33
Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One (2010) 1.32
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet (2009) 1.32
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol (2011) 1.30
Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet (2011) 1.28
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat (2004) 1.25
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet (2010) 1.24
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat (2004) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Human male recombination maps for individual chromosomes. Am J Hum Genet (2004) 1.21
Spatial segmentation of imaging mass spectrometry data with edge-preserving image denoising and clustering. J Proteome Res (2010) 1.20
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers (2010) 1.20
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood (2006) 1.20
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat (2009) 1.19
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet (2002) 1.19
Focused RF hyperthermia using magnetic fluids. Med Phys (2009) 1.19
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet (2010) 1.18
Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis (2006) 1.17
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat (2007) 1.17
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Microdeletion and microduplication syndromes. J Histochem Cytochem (2012) 1.14
The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res (2007) 1.13
Familial Mediterranean fever and glomerulonephritis and review of the literature. Rheumatol Int (2003) 1.12
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Protein profiling of microdissected pancreas carcinoma and identification of HSP27 as a potential serum marker. Clin Chem (2007) 1.12
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet (2011) 1.12
ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet (2009) 1.12
Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding. Int J Mol Med (2003) 1.12
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. Am J Hum Genet (2010) 1.11
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. Am J Hum Genet (2011) 1.11