J. Badano

发表

Dissection of epistasis in oligogenic Bardet–Biedl syndrome

S. Fisher, R. Lewis, H. Dietz, 2006, Nature.

The ciliopathies: an emerging class of human genetic disorders.

Nicholas Katsanis, N. Katsanis, J. Badano, 2006, Annual review of genomics and human genetics.

Pervasive epistasis in cell proliferation pathways modulates neurodevelopmental defects of autism-associated 16p11.2 deletion

S. Girirajan, J. Badano, Qingyu Wang, 2017, bioRxiv.

Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission

N. Katsanis, J. Badano, José L. Badano, 2002, Nature Reviews Genetics.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

N. Katsanis, J. Badano, Hugo Naya, 2012, Journal of Cell Science.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

N. Lago, J. Badano, Victoria Prieto-Echagüe, 2022, PLoS genetics.

Generation and characterization of Ccdc 28 b mutant mice 2 links the Bardet-Biedl associated gene with social behavioral 3 phenotypes 4

N. Lago, J. Badano, Victoria Prieto-Echagüe, 2022 .

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1

N. Katsanis, J. Badano, Victoria Prieto-Echagüe, 2017, Scientific Reports.

Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent

J. Badano, M. Graña, F. Irigoín, 2016, PloS one.

Neuron's little helper: The role of primary cilia in neurogenesis

J. Badano, Paola Lepanto, F. R. Zolessi, 2016, Neurogenesis.

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

J. Lupski, N. Katsanis, J. Badano, 2001, Clinical chemistry.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Bethan E. Hoskins, N. Katsanis, J. Badano, 2004, Nature Genetics.

An effective COVID-19 response in South America: the Uruguayan Conundrum

F. Paganini, J. Badano, L. Barbeito, 2020, medRxiv.

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

N. Katsanis, J. Badano, C. Gascue, 2011, Pediatric Nephrology.

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Bethan E. Hoskins, J. Lupski, P. Scambler, 2001, Science.

Photoreceptor progenitor dynamics in the zebrafish embryo retina and its modulation by primary cilia and N-cadherin

J. Badano, F. R. Zolessi, Gonzalo Aparicio, 2020, bioRxiv.

Studying Human Genetic Variation in Zebrafish

Jose L. Badano, J. Badano, Paola Lepanto, 2019, Cellular and Animal Models in Human Genomics Research.

Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish

J. Badano, Paola Lepanto, G. Casanova, 2016, Neural Development.

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

J. Badano, Magdalena Cárdenas-Rodríguez, José L. Badano, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

S. Girirajan, J. Badano, Qingyu Wang, 2018, Nature Communications.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

L. Shaffer, J. Badano, Yuan-qing Wu, 2000, American journal of human genetics.

defects and compromised intraflagellar transport BBS-7 and BBS-8 protein function results in cilia

S. R. Wicks, N. Katsanis, J. Badano, 2007 .

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

Keeping the Balance Between Proliferation and Differentiation: The Primary Cilium

J. Badano, F. Irigoín, José L. Badano, 2011, Current genomics.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

R. Lewis, N. Katsanis, J. Badano, 2008, Nature Genetics.

Life without Centrioles: Cilia in the Spotlight

N. Katsanis, J. Badano, 2006, Cell.

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

N. Katsanis, J. Badano, C. C. Leitch, 2005, Journal of Cell Science.

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

J. Lupski, R. Lewis, N. Katsanis, 2003, American journal of human genetics.

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

N. Lago, S. Girirajan, J. Badano, 2021, bioRxiv.

Bardet–Biedl syndrome: Is it only cilia dysfunction?

J. Badano, F. Irigoín, Magdalena Cárdenas-Rodríguez, 2015, FEBS letters.

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome

A. Sidow, J. Binkley, N. Katsanis, 2010, Proceedings of the National Academy of Sciences.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Keith A. Boroevich, R. Lewis, N. Katsanis, 2004, Nature Genetics.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

S. R. Wicks, R. Plasterk, N. Katsanis, 2004, Genes & development.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Colin A. Johnson, K. Gull, A. Copp, 2007, Human molecular genetics.

Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules

J. Badano, J. Sotelo-Silveira, D. Munroe, 2014, BMC Molecular Biology.

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B

J. Badano, F. Lecumberry, M. Fariello, 2018, Scientific Reports.

Regulation of neuroblast competence in Drosophila

Tanya M. Teslovich, R. Lewis, N. Katsanis, 2022 .

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

N. Katsanis, J. Badano, P. Beales, 2013, Human molecular genetics.

The centrosome in human genetic disease

Tanya M. Teslovich, Jose L. Badano, Nicholas Katsanis, 2005, Nature Reviews Genetics.

A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo

J. Badano, M. Vendelbo, Victoria Prieto-Echagüe, 2019, Scientific Reports.

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1

N. Katsanis, J. Badano, Victoria Prieto-Echagüe, 2017, Scientific Reports.

Basal body proteins regulate Notch signaling through endosomal trafficking

J. Badano, C. C. Leitch, Victoria Prieto-Echagüe, 2014, Journal of Cell Science.

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

S. Fisher, N. Katsanis, J. Badano, 2007, Nature Genetics.

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

J. Badano, D. Valverde, J. Rotllant, 2019, Scientific Reports.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

S. Girirajan, J. Badano, Qingyu Wang, 2018, Nature Communications.

Insights into in vivo adipocyte differentiation through cell-specific labeling in zebrafish

J. Badano, Leonel Malacrida, U. Koziol, 2021, bioRxiv.

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

A manually curated functional annotation of the human X chromosome

K. S. Deshpande, B. M. Vrushabendra, B. P. Rashmi, 2005, Nature Genetics.

Photoreceptor progenitor dynamics in the zebrafish embryo retina and its modulation by primary cilia and N-cadherin.

J. Badano, F. R. Zolessi, Gonzalo Aparicio, 2020, International Journal of Developmental Biology.