PubRank

H Kayserili

Author PubWeight™ 49.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 2000 9.99
2 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 2000 2.03
3 p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001 2.02
4 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2000 1.80
5 Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology 2008 1.78
6 Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 2006 1.64
7 Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2008 1.56
8 Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999 1.48
9 Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet 2008 1.45
10 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 1999 1.16
11 Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 2009 1.13
12 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet 2013 1.00
13 Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet 2009 0.97
14 Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 1996 0.96
15 Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998 0.95
16 A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. J Clin Endocrinol Metab 2003 0.94
17 Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol 2012 0.93
18 A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet 2005 0.93
19 Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet 2000 0.93
20 Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol 2000 0.92
21 A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet 2007 0.89
22 Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology 2011 0.89
23 Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet 2009 0.88
24 The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome. J Neurol Sci 2006 0.87
25 Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A 2009 0.85
26 De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet 2014 0.85
27 Identification of the parental origin of polysomy in two 49,XXXXY cases. Clin Genet 1997 0.85
28 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet 1998 0.84
29 Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. Eur Rev Med Pharmacol Sci 2012 0.82
30 Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients. Hum Biol 2001 0.80
31 Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein. Hum Mutat 2000 0.80
32 Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Exp Dermatol 2003 0.80
33 Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther 2007 0.80
34 Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet 2001 0.79
35 Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet 2000 0.79
36 Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. J Med Genet 2000 0.78
37 Studies on the pathogenesis of Costello syndrome. J Med Genet 2003 0.78
38 Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. J Inherit Metab Dis 2003 0.78
39 Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients. Hum Hered 2000 0.77
40 Laparoscopic removal of uterus, seminal vesicle and bilateral ovotestes harboring mature teratoma and carcinoid tumor in an intersex patient. J Urol 1996 0.75
41 Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. Clin Genet 1999 0.75
42 A case of brachyolmia. Turk J Pediatr 1997 0.75
43 A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient. Am J Hematol 2000 0.75