Published in Am J Med Genet A on January 21, 2015
Autosomal recessive brachyolmia: early radiological findings. Skeletal Radiol (2016) 0.84
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet (2015) 0.81
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review). Int J Mol Med (2015) 0.79
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. J Hum Genet (2015) 0.78
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A (2016) 0.75
A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita. Hum Genome Var (2017) 0.75
Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes. PLoS One (2016) 0.75
Genetics of Short Stature. Endocrinol Metab Clin North Am (2017) 0.75
Significant clinical benefits of molecular studies in the skeletal dysplasias. Am J Med Genet A (2015) 0.75
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. Eur Spine J (2016) 0.75
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature (2012) 20.47
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. N Engl J Med (2009) 6.66
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Large, rare chromosomal deletions associated with severe early-onset obesity. Nature (2009) 5.20
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
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 the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet (2006) 3.88
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A (2006) 2.86
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia (2008) 2.81
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med (2008) 2.70
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
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
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet (2006) 2.63
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study. Lancet Neurol (2013) 2.61
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Molecular identification of high and low affinity receptors for nicotinic acid. J Biol Chem (2003) 2.52
Environmental tobacco smoke and risk of spontaneous abortion. Epidemiology (2006) 2.51
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Mental health policy development and implementation in four African countries. J Health Psychol (2007) 2.45
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38
Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. J Clin Oncol (2013) 2.36
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol (2008) 2.34
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet (2002) 2.33
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet (2011) 2.23
The shaping and functional consequences of the microRNA landscape in breast cancer. Nature (2013) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
American Academy of Orthopaedic Surgeons Clinical Practice Guideline on: optimizing the management of rotator cuff problems. J Bone Joint Surg Am (2012) 2.20
The implications of shortages of health professionals for maternal health in sub-saharan Africa. Reprod Health Matters (2006) 2.16
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab (2002) 2.13
Increase in prevalence of overweight in Dutch children and adolescents: a comparison of nationwide growth studies in 1980, 1997 and 2009. PLoS One (2011) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet (2007) 2.07
Tracheal regeneration: evidence of bone marrow mesenchymal stem cell involvement. J Thorac Cardiovasc Surg (2012) 2.07
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06