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Ramon Y. Birnbaum · SciRah

Researcher profile · Semantic Scholar

Ramon Y. Birnbaum

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Ramon Y. Birnbaum — researcher profile on SciRah

h-index: 18
Works: 37
Citations: 1,474

Most-cited papers

Chromatin connectivity maps reveal dynamic promoter–enhancer long-range associations
Yubo Zhang, Chee-Hong Wong, Ramon Y. Birnbaum, Guoliang Li +12 more
2013Nature465 citations Open access
Semantic Scholar
Coding exons function as tissue-specific enhancers of nearby genes
Ramon Y. Birnbaum, E. J. Clowney, O. Agamy, Mee J. Kim +13 more
2012Genome Research230 citations Open access
Semantic Scholar
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein
Ramon Y. Birnbaum, A. Zvulunov, D. Hallel-Halevy, E. Cagnano +6 more
2006Nature Genetics86 citations
Semantic Scholar
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
R. Kadir, T. Harel, B. Markus, Y. Perez +11 more
2016PLoS Genetics81 citations Open access
Semantic Scholar
Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
Ramon Y. Birnbaum, D. Everman, K. Murphy, F. Gurrieri +2 more
2012Human Molecular Genetics64 citations Open access
Semantic Scholar
ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes
Idan Cohen, Ramon Y. Birnbaum, K. Leibson, R. Taube +2 more
2012PLoS ONE60 citations Open access
Semantic Scholar
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Y. Perez, R. Kadir, M. Volodarsky, I. Noyman +5 more
2015Journal of Medical Genetics50 citations
Semantic Scholar
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
S. Yanovsky-Dagan, Michal Avitzour, G. Altarescu, P. Renbaum +8 more
2015Stem Cell Reports49 citations Open access
Semantic Scholar
Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium
Avishag Mytlis, Vineet Kumar, Tao Qiu, Rachael Deis +13 more
2022Science45 citations Open access
Semantic Scholar
Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation
Ramon Y. Birnbaum, Rupali Patwardhan, Mee J. Kim, Gregory M. Findlay +7 more
2014PLoS Genetics42 citations Open access
Semantic Scholar
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
Y. Perez, Reut Bar-Yaacov, R. Kadir, O. Wormser +4 more
2019Brain : a journal of neurology38 citations Open access
Semantic Scholar
Unraveling the transcriptional regulation of TWIST1 in limb development
N. Hirsch, Reut Eshel, Reut Bar Yaacov, T. Shahar +6 more
2018PLoS Genetics37 citations Open access
Semantic Scholar
Association analysis identifies ZNF750 regulatory variants in psoriasis
Ramon Y. Birnbaum, Genki Hayashi, Idan Cohen, A. Poon +5 more
2011BMC Medical Genetics28 citations Open access
Semantic Scholar
Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients
Ramon Y. Birnbaum, D. Landau, K. Elbedour, R. Ofir +2 more
2008American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
VPS4 is a dynamic component of the centrosome that regulates centrosome localization of γ-tubulin, centriolar satellite stability and ciliogenesis
Carolyn M. Ott, Dikla Nachmias, S. Adar, M. Jarnik +4 more
2018Scientific Reports27 citations Open access
Semantic Scholar
Cytokinetic abscission is part of the midblastula transition in early zebrafish embryogenesis
Shai Adar-Levor, Dikla Nachmias, S. Gal-Oz, Y. M. Jahn +4 more
2021Proceedings of the National Academy of Sciences of the United States of America20 citations Open access
Semantic Scholar
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
E. D'Haene, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme +8 more
2018Human Molecular Genetics20 citations Open access
Semantic Scholar
Functional characterization of the ZEB2 regulatory landscape
Reut Bar Yaacov, Reut Eshel, Einan Farhi, Fania Shemuluvich +2 more
2018Human Molecular Genetics19 citations Open access
Semantic Scholar
Dual Function of DNA Sequences: Protein-Coding Sequences Function as Transcriptional Enhancers
N. Hirsch, Ramon Y. Birnbaum
2016Perspectives in biology and medicine15 citations
Semantic Scholar
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
N. Hirsch, Idit Dahan, E. D'Haene, Matan Avni +12 more
2021bioRxiv14 citations Open access
Semantic Scholar
MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses
Jay Devine, Marta Vidal-García, Wei Liu, Amanda Neves +32 more
2021Scientific Data14 citations Open access
Semantic Scholar
PICOT binding to chromatin-associated EED negatively regulates cyclin D2 expression by increasing H3K27me3 at the CCND2 gene promoter
Pinakin Pandya, M. Jethva, Eitan Rubin, Ramon Y. Birnbaum +2 more
2019Cell Death and Disease11 citations Open access
Semantic Scholar
From 3D organization of the genome to gene expression
Aviv Elimelech, Ramon Y. Birnbaum
20207 citations
Semantic Scholar
Convergence and divergence of empathic concern and empathic happiness in early childhood: Evidence from young infants and children
M. Zach, Avigail Palgi-Hacker, L. Israeli-Ran, Adi Meidan +5 more
2024Child Development6 citations Open access
Semantic Scholar
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Paola Nicoletti, Samreen Zafer, L. Matok, Inbar Irron +73 more
2024Genetics in medicine open6 citations Open access
Semantic Scholar
Deciphering transcription factors and their corresponding regulatory elements during inhibitory interneuron differentiation using deep neural networks
Rawan Alatawneh, Yahel Salomon, Reut Eshel, Y. Orenstein +1 more
2023Frontiers in Cell and Developmental Biology4 citations Open access
Semantic Scholar
Author Correction: MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses
Jay Devine, Marta Vidal-García, Wei Liu, Amanda Neves +32 more
2023Scientific Data2 citations Open access
Semantic Scholar
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics.
E. D'Haene, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme +8 more
2020Human Molecular Genetics2 citations Open access
Semantic Scholar
Cytokinetic abscission is part of the mid-blastula transition switch in early zebrafish embryogenesis
Shai Adar-Levor, Dikla Nachmias, S. Gal-Oz, Y. M. Jahn +4 more
2020bioRxiv2 citations Open access
Semantic Scholar
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
O. Wormser, Y. Perez, V. Dolgin, Bahman Kamali +13 more
2023npj Genomic Medicine1 citations Open access
Semantic Scholar
' s response to reviews Title : Association Analysis Identifies ZNF 750 Regulatory Variants in Psoriasis
Ramon Y. Birnbaum, Genki Hayashi, Idan Cohen, A. Poon +1 more
20111 citations
Semantic Scholar
Noncoding structural variants disrupt the regulatory architecture of Rett genes
E. D'Haene, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme +8 more
20190 citations
Semantic Scholar
The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
E. D'Haene, Reut Bar-Yaakov, Inbar Bariah, S. Van Loo +7 more
20180 citations
Semantic Scholar
protein-coding sequences function as transcriptional enhancers
N. Hirsch, Ramon Y. Birnbaum
20160 citations
Semantic Scholar
Functional Characterization of Gene Regulatory Elements of Epilepsy-Associated Genes
Ramon Y. Birnbaum, L. Carmel, D. Duboule
20150 citations
Semantic Scholar
ZNF750 is a nuclear protein whose promoter sequence variants are found in psoriasis patients
Idan Cohen, Ramon Y. Birnbaum, A. Bowcock, S. Sivan +1 more
20100 citations
Semantic Scholar
MÉTHODES DE DIAGNOSTIC DE MALADIES DE LA PEAU CAUSÉES PAR UNE MUTATIONDU GÈNE ZNF750
O. Birk, Ramon Y. Birnbaum, Rivka Ofir
20070 citations
Semantic Scholar

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