PubRank

Koray Boduroglu

Author PubWeight™ 17.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010 2.39
2 Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med 2016 2.15
3 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011 1.62
4 Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis 2014 1.47
5 A mutation screen in patients with Kabuki syndrome. Hum Genet 2011 1.36
6 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
7 Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. Clin Dysmorphol 2002 1.10
8 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet 2015 0.94
9 Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. Hum Mutat 2013 0.84
10 A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A 2015 0.83
11 Cerebro-facio-thoracic dysplasia: expanding the phenotype. Clin Dysmorphol 2007 0.81
12 Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome. Hum Mol Genet 2013 0.81
13 Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Am J Med Genet A 2013 0.78
14 Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. Am J Med Genet A 2014 0.78
15 RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest 2015 0.77
16 Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer 2013 0.76
17 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A 2013 0.76
18 Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH. Eur J Med Genet 2008 0.76
19 Barraquer-Simons syndrome: a rare clinical entity. Am J Med Genet A 2014 0.76
20 Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p. J AAPOS 2012 0.75
21 Vesiculopustular eruption in neonatal transient myeloproliferative disorder. Indian J Pediatr 2013 0.75
22 Prenatal diagnosis in a fetus with de-novo 20q11.2q13.1 deletion and review of the literature. Clin Dysmorphol 2014 0.75
23 Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance. Am J Med Genet A 2004 0.75