| Tipo Producción |
Título |
Autor |
Año de Producción |
DOI |
Revista |
Fuente |
Cuartil de ScimagoJR o JCR* |
|
Artículo en revista científica
|
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning
|
Abad C.
|
2024
|
10.1038/S41398-023-02678-X
|
Translational Psychiatry
|
|
2024: No disponible**, 2020: Q1
|
|
Journal - Article
|
<i>Gatad2b</i>, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning
|
Abad, Clemer | Robayo, Maria C. | Muniz-Moreno, Maria del Mar | Bernardi, Maria T. | Otero, Maria G. | Kosanovic, Christina | Griswold, Anthony J. | Pierson, Tyler Mark | Walz, Katherina | Young, Juan I.
|
2024
|
10.1038/S41398-023-02678-X
|
TRANSLATIONAL PSYCHIATRY
|
|
2024: No disponible**, 2020: Q1
|
|
Artículo en revista científica
|
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
|
Ramzan M.
|
2024
|
10.1038/S41431-024-01562-6
|
European Journal of Human Genetics
|
|
2024: No disponible**, 2020: Q1
|
|
Journal - Article
|
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
|
Ramzan, Memoona | Zafeer, Mohammad Faraz | Abad, Clemer | Guo, Shengru | Owrang, Daniel | Alper, Ozgul | Mutlu, Ahmet | Atik, Tahir | Duman, Duygu | Bademci, Guney | Vona, Barbara | Kalcioglu, Mahmut Tayyar | Walz, Katherina | Tekin, Mustafa
|
2024
|
10.1038/S41431-024-01562-6
|
EUROPEAN JOURNAL OF HUMAN GENETICS
|
|
2024: No disponible**, 2020: Q2
|
|
Artículo en revista científica
|
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
|
Camarena V.
|
2024
|
10.1172/JCI.INSIGHT.174417
|
JCI Insight
|
|
2024: No disponible**, 2020: Q1
|
|
Journal - Article
|
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
|
Bademci, Guney | Lachgar-Ruiz, Maria | Deokar, Mangesh | Zafeer, Mohammad Faraz | Abad, Clemer | Baylan, Muzeyyen Yildirim | Ingham, Neil J. | Chen, Jing | Sineni, Claire J. | Vadgama, Nirmal | Karakikes, Ioannis | Guo, Shengru | Duman, Duygu | Singh, Nitu | Harlalka, Gaurav | Jain, Shirish P. | Chioza, Barry A. | Walz, Katherina | Steel, Karen P. | Nasir, Jamal | Tekin, Mustafa
|
2022
|
10.1073/PNAS.2204084119
|
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
|
|
Q1
|
|
Artículo en revista científica
|
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
|
Bademci G.
|
2022
|
10.1073/PNAS.2204084119
|
Proceedings of the National Academy of Sciences of the United States of America
|
|
Q1
|
|
Journal-article
|
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
|
|
2022
|
10.1073/PNAS.2204084119
|
|
Crossref a través de ORCID
|
|
|
Artículo en revista científica
|
Generation and characterization of a P2rx2 V60L mouse model for DFNA41
|
Chen X.
|
2021
|
10.1093/hmg/ddab077
|
Human Molecular Genetics
|
|
2021: No disponible**, 2020: Q1
|
|
JOURNAL_ARTICLE
|
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
|
|
2021
|
10.1093/hmg/ddab077
|
|
Clemer Abad a través de ORCID
|
|
|
Journal - Article
|
Generation and characterization of a <i>P2rx2</i> V6OL mouse model for DFNA41
|
Chen, Xiaoya | Abad, Clemer | Chen, Zheng-Yi | Young, Juan, I | Gurumurthy, Channabasavaiah B. | Walz, Katherina | Liu, Xue Zhong
|
2021
|
10.1093/HMG/DDAB077
|
HUMAN MOLECULAR GENETICS
|
|
Q2
|
|
JOURNAL_ARTICLE
|
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
|
|
2020
|
10.1172/jci136951
|
|
Clemer Abad a través de ORCID
|
|
|
Artículo en revista científica
|
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development
|
Bademci G.
|
2020
|
10.1172/JCI136951
|
Journal of Clinical Investigation
|
|
Q1
|
|
Journal - Article
|
Long-range <i>cis</i>-regulatory elements controlling <i>GDF6</i> expression are essential for ear development
|
Bademci, Guney | Abad, Clemer | Cengiz, Filiz B. | Seyhan, Serhat | Incesulu, Armagan | Guo, Shengru | Fitoz, Suat | Atli, Emine Ikbal | Gosstola, Nicholas C. | Demir, Selma | Colbert, Brett M. | Seyhan, Gozde Cosar | Sineni, Claire J. | Duman, Duygu | Gurkan, Hakan | Morton, Cynthia C. | Dykxhoorn, Derek M. | Walz, Katherina | Tekin, Mustafa
|
2020
|
10.1172/JCI136951
|
JOURNAL OF CLINICAL INVESTIGATION
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
|
|
2020
|
10.1186/s13229-020-00354-1
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
|
Seabra C.M.
|
2020
|
10.1186/s13229-020-00354-1
|
Molecular Autism
|
|
Q1
|
|
Journal - Article
|
Transcriptional consequences of <i>MBD5</i> disruption in mouse brain and CRISPR-derived neurons
|
Seabra, Catarina M. | Aneichyk, Tatsiana | Erdin, Serkan | Tai, Derek J. C. | De Esch, Celine E. F. | Razaz, Parisa | An, Yu | Manavalan, Poornima | Ragavendran, Ashok | Stortchevoi, Alexei | Abad, Clemer | Young, Juan, I | Maciel, Patricia | Talkowski, Michael E. | Gusella, James F.
|
2020
|
10.1186/S13229-020-00354-1
|
Molecular Autism
|
|
Q1
|
|
Artículo en revista científica
|
Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival
|
Kannan-Sundhari A.
|
2020
|
10.3389/fcell.2020.576654
|
Frontiers in Cell and Developmental Biology
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival.
|
|
2020
|
10.3389/fcell.2020.576654
|
|
Clemer Abad a través de ORCID
|
|
|
Journal - Article
|
Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival
|
Kannan-Sundhari, Abhiraami | Abad, Clemer | Maloof, Marie E. | Ayad, Nagi G. | Young, Juan I. | Liu, Xue Zhong | Walz, Katherina
|
2020
|
10.3389/FCELL.2020.576654
|
Frontiers in Cell and Developmental Biology
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
|
|
2019
|
10.1073/pnas.1810951116
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
|
Li C.
|
2019
|
10.1073/pnas.1810951116
|
Proceedings of the National Academy of Sciences of the United States of America
|
|
Q1
|
|
Journal - Article
|
Dysfunction of <i>GRAP</i>, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
|
Li, Chong | Bademci, Guney | Subasioglu, Asli | Diaz-Horta, Oscar | Zhu, Yi | Liu, Jiaqi | Mitchell, Timothy Gavin | Abad, Clemer | Seyhan, Serhat | Duman, Duygu | Cengiz, Filiz Basak | Tokgoz-Yilmaz, Suna | Blanton, Susan H. | Farooq, Amjad | Walz, Katherina | Zhai, R. Grace | Tekin, Mustafa
|
2019
|
10.1073/PNAS.1810951116
|
|
|
S/C***
|
|
JOURNAL_ARTICLE
|
FOXF2 is required for cochlear development in humans and mice
|
|
2019
|
10.1093/hmg/ddy431
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
FOXF2 is required for cochlear development in humans and mice
|
Bademci G.
|
2019
|
10.1093/hmg/ddy431
|
Human Molecular Genetics
|
|
Q1
|
|
Journal - Article
|
<i>FOXF2</i> is required for cochlear development in humans and mice
|
Bademci, Guney | Abad, Clemer | Incesulu, Armagan | Elian, Fahed | Reyahi, Azadeh | Diaz-Horta, Oscar | Cengiz, Filiz B. | Sineni, Claire J. | Seyhan, Serhat | Atli, Emine Ikbal | Basmak, Hikmet | Demir, Selma | Nik, Ali Moussavi | Footz, Tim | Guo, Shengru | Duman, Duygu | Fitoz, Suat | Gurkan, Hakan | Blanton, Susan H. | Walter, Michael A. | Carlsson, Peter | Walz, Katherina | Tekin, Mustafa
|
2019
|
10.1093/HMG/DDY431
|
HUMAN MOLECULAR GENETICS
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
|
|
2018
|
10.1007/s00109-018-1694-x
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
|
Diaz-Horta O.
|
2018
|
10.1007/s00109-018-1694-x
|
Journal of Molecular Medicine
|
|
Q1
|
|
Journal - Article
|
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
|
Diaz-Horta, Oscar | Abad, Clemer | Cengiz, Filiz Basak | Bademci, Guney | Blackwelder, Pat | Walz, Katherina | Tekin, Mustafa
|
2018
|
10.1007/S00109-018-1694-X
|
JOURNAL OF MOLECULAR MEDICINE-JMM
|
|
Q1
|
|
Artículo en revista científica
|
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
|
Bademci G.
|
2018
|
10.1007/s00439-018-1901-4
|
Human Genetics
|
|
Q1
|
|
JOURNAL_ARTICLE
|
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
|
|
2018
|
10.1007/s00439-018-1901-4
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Journal - Article
|
<i>MPZL2</i> is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
|
Bademci, Guney | Abad, Clemer | Incesulu, Armagan | Rad, Abolfazl | Alper, Ozgul | Kolb, Susanne M. | Cengiz, Filiz B. | Diaz-Horta, Oscar | Silan, Fatma | Mihci, Ercan | Ocak, Emre | Najafi, Maryam | Maroofian, Reza | Yilmaz, Elanur | Nur, Banu G. | Duman, Duygu | Guo, Shengru | Sant, David W. | Wang, Gaofeng | Monje, Paula V. | Haaf, Thomas | Blanton, Susan H. | Vona, Barbara | Walz, Katherina | Tekin, Mustafa
|
2018
|
10.1007/S00439-018-1901-4
|
HUMAN GENETICS
|
|
Q1
|
|
Artículo en revista científica
|
A rare de novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical smith-magenis syndrome presentation
|
Abad C.
|
2018
|
10.3390/biology7020031
|
Biology
|
|
Q1
|
|
JOURNAL_ARTICLE
|
A rare de novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical smith-magenis syndrome presentation
|
|
2018
|
10.3390/biology7020031
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Journal - Article
|
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
|
Abad, Clemer | Cook, Melissa M. | Cao, Lei | Jones, Julie R. | Rao, Nalini R. | Dukes-Rimsky, Lynn | Pauly, Rini | Skinner, Cindy | Wang, Yunsheng | Luo, Feng | Stevenson, Roger E. | Walz, Katherina | Srivastava, Anand K.
|
2018
|
10.3390/BIOLOGY7020031
|
|
|
2018: No disponible**, 2020: Q1
|
|
Artículo en revista científica
|
Rai1 haploinsufficiency is associated with social abnormalities in mice
|
Rao N.R.
|
2017
|
10.3390/biology6020025
|
Biology
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Rai1 haploinsufficiency is associated with social abnormalities in mice
|
|
2017
|
10.3390/biology6020025
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Journal - Article
|
Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice
|
Rao, Nalini R. | Abad, Clemer | Perez, Irene C. | Srivastava, Anand K. | Young, Juan I. | Walz, Katherina
|
2017
|
10.3390/BIOLOGY6020025
|
|
|
2017: No disponible**, 2020: Q1
|
|
Artículo en revista científica
|
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
|
Diaz-Horta O.
|
2016
|
10.1073/pnas.1522512113
|
Proceedings of the National Academy of Sciences of the United States of America
|
|
Q1
|
|
JOURNAL_ARTICLE
|
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
|
|
2016
|
10.1073/pnas.1522512113
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
|
Walz K.
|
2015
|
10.1007/s00439-014-1509-2
|
Human Genetics
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
|
|
2015
|
10.1007/s00439-014-1509-2
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development
|
Gallagher D.
|
2015
|
10.1016/j.devcel.2014.11.031
|
Developmental Cell
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development
|
|
2015
|
10.1016/j.devcel.2014.11.031
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development
|
Voronova A.
|
2015
|
10.1186/2193-1801-4-S1-L28
|
SpringerPlus
|
|
Q1
|
|
JOURNAL_ARTICLE
|
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
|
|
2014
|
10.1073/pnas.1401950111
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Artículo en revista científica
|
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
|
Diaz-Horta O.
|
2014
|
10.1073/pnas.1401950111
|
Proceedings of the National Academy of Sciences of the United States of America
|
|
Q1
|
|
Artículo en revista científica
|
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory
|
Cao L.
|
2014
|
10.1093/hmg/ddt568
|
Human Molecular Genetics
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory
|
|
2014
|
10.1093/hmg/ddt568
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Letter
|
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction
|
Foster J.
|
2014
|
10.1111/cge.12321
|
Clinical Genetics
|
|
No Aplica
|
|
JOURNAL_ARTICLE
|
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction
|
|
2014
|
10.1111/cge.12321
|
|
Scopus - Elsevier a través de ORCID
|
|
|
Review
|
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
|
Camarena V.
|
2014
|
10.15252/emmm.201404044
|
EMBO Molecular Medicine
|
|
Q1
|
|
JOURNAL_ARTICLE
|
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
|
|
2014
|
10.15252/emmm.201404044
|
|
Scopus - Elsevier a través de ORCID
|
|
|
JOURNAL_ARTICLE
|
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
|
|
2013
|
10.1093/hmg/ddt568
|
|
Clemer Abad a través de ORCID
|
|