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N. Elcioglu · SciRah

Researcher profile · Semantic Scholar

N. Elcioglu

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N. Elcioglu — researcher profile on SciRah

h-index: 35
Works: 119
Citations: 5,463

Most-cited papers

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C. Stoetzel, V. Laurier, E. Davis, J. Muller +31 more
2006Nature Genetics312 citations Open access
Semantic Scholar
Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E. Karaca, T. Harel, D. Pehlivan, S. Jhangiani +60 more
2015Neuron299 citations Open access
Semantic Scholar
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
D. Wieczorek, N. Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt +52 more
2013Human Molecular Genetics215 citations Open access
Semantic Scholar
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
C. Giunta, N. Elcioglu, B. Albrecht, G. Eich +7 more
2008American Journal of Human Genetics215 citations Open access
Semantic Scholar
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Brian Kelley, F. Malfait, L. Bonafė, Dustin Baldridge +13 more
2010Journal of Bone and Mineral Research185 citations Open access
Semantic Scholar
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Yun Li, B. Pawlik, N. Elcioglu, M. Aglan +22 more
2010American Journal of Human Genetics178 citations Open access
Semantic Scholar
Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study
T. Beaty, M. Taub, A. Scott, Jeffrey C. Murray +12 more
2013Human Genetics145 citations Open access
Semantic Scholar
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
M. Schmidts, H. Arts, E. Bongers, Z. Yap +30 more
2013Journal of Medical Genetics135 citations Open access
Semantic Scholar
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Rocio Acuna-Hidalgo, D. Schanze, A. Kariminejad, A. Nordgren +26 more
2014American Journal of Human Genetics125 citations Open access
Semantic Scholar
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
M. Schmidts, J. Vodopiutz, S. Christou-Savina, Claudio R. Cortés +30 more
2013American Journal of Human Genetics125 citations Open access
Semantic Scholar
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
M. E. Harley, O. Murina, A. Leitch, M. Higgs +26 more
2015Nature Genetics100 citations Open access
Semantic Scholar
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Y. Bayram, E. Karaca, Zeynep Coban Akdemir, E. Yilmaz +24 more
2016Journal of Clinical Investigation97 citations Open access
Semantic Scholar
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
J. Rainger, E. van Beusekom, J. Ramsay, Lisa McKie +32 more
2011PLoS Genetics94 citations Open access
Semantic Scholar
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
D. Pehlivan, Y. Bayram, Nilay Gunes, Zeynep Coban Akdemir +42 more
2019American Journal of Human Genetics92 citations Open access
Semantic Scholar
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, R. Thakur +47 more
2018American Journal of Human Genetics86 citations Open access
Semantic Scholar
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
K. Khan, Clare V. Logan, M. Mckibbin, E. Sheridan +17 more
2011Human Molecular Genetics81 citations Open access
Semantic Scholar
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
N. Bramswig, H. Lüdecke, F. Hamdan, J. Altmuller +19 more
2017Human Genetics77 citations Open access
Semantic Scholar
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
N. Bögershausen, I‐Chun Tsai, Esther Pohl, P. Kiper +24 more
2015Journal of Clinical Investigation76 citations Open access
Semantic Scholar
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
R. Bargal, M. Zeigler, B. Abu-Libdeh, Vivi Zuri +8 more
2006Molecular Genetics and Metabolism76 citations
Semantic Scholar
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
Katharina Keupp, Yun Li, I. Vargel, A. Hoischen +23 more
2013Molecular Genetics & Genomic Medicine73 citations Open access
Semantic Scholar
Further delineation of Malan syndrome
M. Priolo, D. Schanze, K. Tatton-Brown, P. Mulder +50 more
2018Human Mutation69 citations Open access
Semantic Scholar
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
G. Uyanik, N. Elcioglu, J. Penzien, C. Gross +10 more
2006Neurology65 citations Open access
Semantic Scholar
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients
S. Spena, D. Milani, Daniela Rusconi, Gloria Negri +11 more
2015Clinical Genetics63 citations
Semantic Scholar
PAPSS2 mutations cause autosomal recessive brachyolmia
N. Miyake, N. Elcioglu, A. Iida, Pınar Isguven +11 more
2012Journal of Medical Genetics56 citations Open access
Semantic Scholar
The genomic and clinical landscape of fetal akinesia
M. Pergande, Susanne Motameny, Ö. Özdemir, Mona Kreutzer +27 more
2019Genetics in Medicine52 citations Open access
Semantic Scholar
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Y. Bayram, Janson J. White, N. Elcioglu, M. Cho +18 more
2017American Journal of Human Genetics52 citations Open access
Semantic Scholar
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
E. Colombo, J. Bazan, Gloria Negri, C. Gervasini +11 more
2012Orphanet Journal of Rare Diseases51 citations Open access
Semantic Scholar
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
T. Atik, A. Koparir, G. Bademci, J. Foster +12 more
2015Orphanet Journal of Rare Diseases49 citations Open access
Semantic Scholar
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay
D. Jenkins, G. Baynam, L. de Catte, N. Elcioglu +6 more
2011Human Mutation46 citations Open access
Semantic Scholar
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
A. Lupi, A. Rossi, Elena Campari, Fabio Pecora +6 more
2006Journal of Medical Genetics43 citations Open access
Semantic Scholar
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Nadine Rosin, N. Elcioglu, Filippo Beleggia, P. İşgüven +8 more
2015Human Molecular Genetics39 citations Open access
Semantic Scholar
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
A. Iida, P. O. Simsek-Kiper, S. Mizumoto, T. Hoshino +13 more
2013Human Mutation35 citations Open access
Semantic Scholar
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
Long Guo, N. Elcioglu, S. Mizumoto, Zheng Wang +7 more
2017Journal of Human Genetics32 citations Open access
Semantic Scholar
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Filippo Beleggia, Yun Li, Jie-Qing Fan, N. Elcioglu +8 more
2015Human Molecular Genetics29 citations Open access
Semantic Scholar
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome
E. Colombo, A. Locatelli, Laura Cubells Sánchez, S. Romeo +9 more
2018International Journal of Molecular Sciences27 citations Open access
Semantic Scholar
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
Long Guo, N. Elcioglu, A. Iida, Y. Demirkol +5 more
2016Journal of Human Genetics27 citations
Semantic Scholar
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
Long Guo, N. Elcioglu, Zheng Wang, Y. Demirkol +5 more
2017Human Genome Variation26 citations Open access
Semantic Scholar
Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
J. Schlump, A. Stein, U. Hehr, T. Karen +8 more
2012European Journal of Pediatrics26 citations Open access
Semantic Scholar
Dysosteosclerosis is also caused by TNFRSF11A mutation
Long Guo, N. Elcioglu, Ozge K. Karalar, M. Topkar +6 more
2018Journal of Human Genetics25 citations Open access
Semantic Scholar
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
D. Pehlivan, Zeynep Coban Akdemir, E. Karaca, Y. Bayram +9 more
2015Human Genetics25 citations Open access
Semantic Scholar
Human Mutation
Carla Martins, P. D. de Medeiros, S. Leistner, Segal +10 more
201924 citations
Semantic Scholar
Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta
S. Nampoothiri, Brecht Guillemyn, N. Elcioglu, S. Jagadeesh +5 more
2019American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
L. Porter, G. Galli, Sally J Williamson, Julian N. Selley +9 more
2015Human Molecular Genetics24 citations Open access
Semantic Scholar
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
Megan McSherry, Katherine E. Masih, N. Elcioglu, Pelin Çeli̇k +10 more
2018PLoS ONE23 citations Open access
Semantic Scholar
Recessive omodysplasia: five new cases and review of the literature
N. Elcioglu, K. Gustavson, A. Wilkie, Memune Yüksel-Apak +1 more
2004Pediatric Radiology22 citations
Semantic Scholar
Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree
E. Toker, N. Elcioglu, Eda Ozcan, O. Yenice +1 more
2003American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR.
A. Basgul, Z. N. Kavak, İ. Akman, Hüsnü Gökaslan +1 more
2006Clinical and experimental obstetrics & gynecology20 citations
Semantic Scholar
Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome
Kyle D. Klingbeil, C. Greenland, S. Arslan, Arianne Llamos Paneque +16 more
2017International Journal of Pediatric Otorhinolaryngology18 citations Open access
Semantic Scholar
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
E. Ranza, C. Huber, N. Levin, G. Baujat +21 more
2017Clinical Genetics18 citations Open access
Semantic Scholar

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