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Hulya Kayserili
Hulya Kayserili
Professor of medical genetics, Koc university School of Medicine
Verified email at kuh.ku.edu.tr - Homepage
Title
Cited by
Cited by
Year
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ...
Cell 161 (5), 1012-1025, 2015
20522015
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ...
Cell 102 (5), 565-575, 2000
19512000
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
7902002
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5572014
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
H Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara, M Yamada, ...
Nature genetics 37 (5), 468-470, 2005
4232005
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation
H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...
The American Journal of Human Genetics 69 (3), 481-492, 2001
4202001
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ...
Nature genetics 41 (9), 1032-1036, 2009
4172009
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
4132008
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
4082011
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
3382016
Responsible implementation of expanded carrier screening
L Henneman, P Borry, D Chokoshvili, MC Cornel, CG van El, F Forzano, ...
European journal of human genetics 24 (6), e1-e12, 2016
3332016
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
ABP Van Kuilenburg, P Vreken, N Abeling, HD Bakker, R Meinsma, ...
Human genetics 104, 1-9, 1999
3261999
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
G Novarino, P El-Fishawy, H Kayserili, NA Meguid, EM Scott, J Schroth, ...
Science 338 (6105), 394-397, 2012
3222012
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
H van Bokhoven, J Celli, H Kayserili, E van Beusekom, S Balci, W Brussel, ...
Nature genetics 25 (4), 423-426, 2000
3202000
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
T Dixon-Salazar, JL Silhavy, SE Marsh, CM Louie, LC Scott, A Gururaj, ...
The American Journal of Human Genetics 75 (6), 979-987, 2004
3152004
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
2952013
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology 13 (1), 44-58, 2014
2772014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ...
Cell 157 (3), 651-663, 2014
2752014
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
E Kalay, G Yigit, Y Aslan, KE Brown, E Pohl, LS Bicknell, H Kayserili, Y Li, ...
Nature genetics 43 (1), 23-26, 2011
2712011
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
HJ Lüdecke, J Schaper, P Meinecke, P Momeni, S Groß, D Von Holtum, ...
The American Journal of Human Genetics 68 (1), 81-91, 2001
2622001
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