Published in Eur J Hum Genet on August 29, 2007
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res (2011) 1.12
Early childhood presentation of Czech dysplasia. Clin Dysmorphol (2013) 0.84
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. Orphanet J Rare Dis (2011) 0.79
RB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfism. J Biol Chem (2011) 0.78
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report. BMC Med Genet (2016) 0.75
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X. Cell Stress Chaperones (2016) 0.75
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst (2013) 2.93
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol (2013) 2.71
Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab (2006) 1.81
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res (2006) 1.77
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet (2007) 1.73
Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol (2008) 1.69
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet (2006) 1.63
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 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
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr (2014) 1.57
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A (2005) 1.55
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
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet (2011) 1.52
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome. Am J Med Genet A (2008) 1.49
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet (2007) 1.46
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab (2009) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol (2011) 1.41
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40
Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol (2012) 1.40
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev (2007) 1.36
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet (2002) 1.32
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet (2006) 1.31
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget (2011) 1.31
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A (2010) 1.30
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat (2011) 1.25
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod (2008) 1.23
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet (2006) 1.20
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A (2009) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet (2008) 1.18
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat (2009) 1.18
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 1.17
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet (2002) 1.16
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. Am J Med Genet A (2004) 1.14
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat (2002) 1.13
Family history in primary care: understanding GPs' resistance to clinical genetics--qualitative study. Br J Gen Pract (2010) 1.13