Works by Katsanis, Nicholas

Results: 94

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 12, p. 2179, doi. 10.1002/humu.24127

By:

Epting, Daniel;
Senaratne, Lokuliyange D. S.;
Ott, Elisabeth;
Holmgren, Asbjørn;
Sumathipala, Dulika;
Larsen, Selma M.;
Wallmeier, Julia;
Bracht, Diana;
Frikstad, Kari‐Anne M.;
Crowley, Suzanne;
Sikiric, Alma;
Barøy, Tuva;
Käsmann‐Kellner, Barbara;
Decker, Eva;
Decker, Christian;
Bachmann, Nadine;
Patzke, Sebastian;
Phelps, Ian G.;
Katsanis, Nicholas;
Giles, Rachel

Publication type:

Article

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 655, doi. 10.1002/humu.23952

By:

Mizumoto, Shuji;
Janecke, Andreas R.;
Sadeghpour, Azita;
Povysil, Gundula;
McDonald, Marie T.;
Unger, Sheila;
Greber‐Platzer, Susanne;
Deak, Kristen L.;
Katsanis, Nicholas;
Superti‐Furga, Andrea;
Sugahara, Kazuyuki;
Davis, Erica E.;
Yamada, Shuhei;
Vodopiutz, Julia

Publication type:

Article

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1474, doi. 10.1002/humu.23856

By:

Monzon, Alexander Miguel;
Carraro, Marco;
Chiricosta, Luigi;
Reggiani, Francesco;
Han, James;
Ozturk, Kivilcim;
Wang, Yanran;
Miller, Maximilian;
Bromberg, Yana;
Capriotti, Emidio;
Savojardo, Castrense;
Babbi, Giulia;
Martelli, Pier L.;
Casadio, Rita;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Carter, Hannah;
Kousi, Maria;
Katsanis, Nicholas;
Andreoletti, Gaia

Publication type:

Article

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1261, doi. 10.1002/humu.21356

By:

Riazuddin, S. Amer;
Vithana, Eranga N.;
Seet, Li-Fong;
Liu, Yangjian;
Al-Saif, Amr;
Koh, Li Wei;
Heng, Yee Meng;
Aung, Tin;
Meadows, Danielle N.;
Eghrari, Allen O.;
Gottsch, John D.;
Katsanis, Nicholas

Publication type:

Article

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Published in:

Nature Genetics, 2013, v. 45, n. 11, p. 1366, doi. 10.1038/ng.2741

By:

Seddon, Johanna M;
Yu, Yi;
Miller, Elizabeth C;
Reynolds, Robyn;
Tan, Perciliz L;
Gowrisankar, Sivakumar;
Goldstein, Jacqueline I;
Triebwasser, Michael;
Anderson, Holly E;
Zerbib, Jennyfer;
Kavanagh, David;
Souied, Eric;
Katsanis, Nicholas;
Daly, Mark J;
Atkinson, John P;
Raychaudhuri, Soumya

Publication type:

Article

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103

By:

Sarparanta, Jaakko;
Jonson, Per Harald;
Golzio, Christelle;
Sandell, Satu;
Luque, Helena;
Screen, Mark;
McDonald, Kristin;
Stajich, Jeffrey M;
Mahjneh, Ibrahim;
Vihola, Anna;
Raheem, Olayinka;
Penttilä, Sini;
Lehtinen, Sara;
Huovinen, Sanna;
Palmio, Johanna;
Tasca, Giorgio;
Ricci, Enzo;
Hackman, Peter;
Hauser, Michael;
Katsanis, Nicholas

Publication type:

Article

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Published in:

Nature Genetics, 2011, v. 43, n. 12, p. 1232, doi. 10.1038/ng.976

By:

Raychaudhuri, Soumya;
Iartchouk, Oleg;
Chin, Kimberly;
Tan, Perciliz L;
Tai, Albert K;
Ripke, Stephan;
Gowrisankar, Sivakumar;
Vemuri, Soumya;
Montgomery, Kate;
Yu, Yi;
Reynolds, Robyn;
Zack, Donald J;
Campochiaro, Betsy;
Campochiaro, Peter;
Katsanis, Nicholas;
Daly, Mark J;
Seddon, Johanna M

Publication type:

Article

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Published in:

Nature Genetics, 2011, v. 43, n. 8, p. 776, doi. 10.1038/ng.891

By:

Garcia-Gonzalo, Francesc R;
Corbit, Kevin C.;
Sirerol-Piquer, María Salomé;
Ramaswami, Gokul;
Otto, Edgar A.;
Noriega, Thomas R.;
Seol, Allen D.;
Robinson, Jon F.;
Bennett, Christopher L.;
Josifova, Dragana J.;
García-Verdugo, José Manuel;
Katsanis, Nicholas;
Hildebrandt, Friedhelm;
Reiter, Jeremy F.

Publication type:

Article

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

Published in:

2008

By:

Leitch, Carmen C;
Zaghloul, Norann A;
Davis, Erica E;
Stoetzel, Corinne;
Diaz-Font, Anna;
Rix, Suzanne;
Al-Fadhel, Majid;
Lewis, Richard Alan;
Eyaid, Wafaa;
Banin, Eyal;
Dollfus, Helene;
Beales, Philip L;
Badano, Jose L;
Katsanis, Nicholas

Publication type:

Correction Notice

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

Published in:

Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97

By:

Leitch, Carmen C.;
Zaghloul, Norann A.;
Davis, Erica E.;
Stoetzel, Corinne;
Diaz-Font, Anna;
Rix, Suzanne;
Al-Fadhel, Majid;
Lewis, Richard Alan;
Eyaid, Wafaa;
Banin, Eyal;
Dollfus, Helene;
Beales, Philip L.;
Badano, Jose L.;
Katsanis, Nicholas

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 11, p. 1350, doi. 10.1038/ng.2007.12

By:

Gerdes, Jantje M.;
Yangfan Liu;
Zaghloul, Norann A.;
Leitch, Carmen C.;
Lawson, Shaneka S.;
Kato, Masaki;
Beachy, Philip A.;
Beales, Philip L.;
DeMartino, George N.;
Fisher, Shannon;
Badano, Jose L.;
Katsanis, Nicholas

Publication type:

Article

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.

Published in:

2006

By:

Gherman, Adrian;
Davis, Erica E.;
Katsanis, Nicholas

Publication type:

Letter

Ciliary proteins and exencephaly.

Published in:

Nature Genetics, 2006, v. 38, n. 2, p. 135, doi. 10.1038/ng0206-135

By:

Katsanis, Nicholas

Publication type:

Article

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Published in:

Nature Genetics, 2005, v. 37, n. 3, p. 275, doi. 10.1038/ng1511

By:

Loeys, Bart L;
Chen, Junji;
Neptune, Enid R;
Judge, Daniel P;
Podowski, Megan;
Holm, Tammy;
Meyers, Jennifer;
Leitch, Carmen C;
Katsanis, Nicholas;
Sharifi, Neda;
Xu, F Lauren;
Myers, Loretha A;
Spevak, Philip J;
Cameron, Duke E;
Backer, Julie De;
Hellemans, Jan;
Chen, Yan;
Davis, Elaine C;
Webb, Catherine L;
Kress, Wolfram

Publication type:

Article

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

Published in:

Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414

By:

Fan, Yanli;
Esmail, Muneer A.;
Ansley, Stephen J.;
Blacque, Oliver E.;
Boroevich, Keith;
Ross, Alison J.;
Moore, Susan J.;
Badano, Jose L.;
May-Simera, Helen;
Compton, Deanna S.;
Green, Jane S.;
Lewis, Richard Alan;
van Haelst, Mieke M.;
Parfrey, Patrick S.;
Baillie, David L.;
Beales, Philip L.;
Katsanis, Nicholas;
Davidson, William S.;
Leroux, Michel R.

Publication type:

Article

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

Published in:

Nature Genetics, 2004, v. 36, n. 9, p. 994, doi. 10.1038/ng1418

By:

Kulaga, Heather M.;
Leitch, Carmen C.;
Eichers, Erica R.;
Badano, Jose L.;
Lesemann, Alysa;
Hoskins, Bethan E.;
Lupski, James R.;
Beales, Philip L.;
Reed, Randall R.;
Katsanis, Nicholas

Publication type:

Article

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

Published in:

Nature Genetics, 2004, v. 36, n. 5, p. 462, doi. 10.1038/ng1352

By:

Kim, Jun Chul;
Badano, Jose L;
Sibold, Sonja;
Esmail, Muneer A;
Hill, Josephine;
Hoskins, Bethan E;
Leitch, Carmen C;
Venner, Kerrie;
Ansley, Stephen J;
Ross, Alison J;
Leroux, Michel R;
Katsanis, Nicholas;
Beales, Philip L

Publication type:

Article

An evaluation of the draft human genome sequence.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 88, doi. 10.1038/ng0901-88

By:

Katsanis, Nicholas;
Worley, Kim C.;
Lupski, James R.

Publication type:

Article

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 67, doi. 10.1038/79201

By:

Katsanis, Nicholas;
Beales, Philip L.;
Woods, Michael O.;
Lewis, Richard A.;
Green, Jane S.;
Parfrey, Patrick S.;
Ansley, Stephen J.;
Davidson, William S.;
Lupski, James R.

Publication type:

Article

Polygenic risk score portability for common diseases across genetically diverse populations.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00664-y

By:

Moreno-Grau, Sonia;
Vernekar, Manvi;
Lopez-Pineda, Arturo;
Mas-Montserrat, Daniel;
Barrabés, Míriam;
Quinto-Cortés, Consuelo D.;
Moatamed, Babak;
Lee, Ming Ta Michael;
Yu, Zhenning;
Numakura, Kensuke;
Matsuda, Yuta;
Wall, Jeffrey D.;
Ioannidis, Alexander G.;
Katsanis, Nicholas;
Takano, Tomohiro;
Bustamante, Carlos D.

Publication type:

Article

Identification of cis-suppression of human disease mutations by comparative genomics.

Published in:

Nature, 2015, v. 524, n. 7564, p. 225, doi. 10.1038/nature14497

By:

Jordan, Daniel M.;
Frangakis, Stephan G.;
Golzio, Christelle;
Cassa, Christopher A.;
Kurtzberg, Joanne;
Davis, Erica E.;
Sunyaev, Shamil R.;
Katsanis, Nicholas

Publication type:

Article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Published in:

Journal of Cell Biology, 2015, v. 209, n. 1, p. 129, doi. 10.1083/jcb.201411087

By:

Roberson, Elle C.;
Dowdle, William E.;
Ozanturk, Aysegul;
Garcia-Gonzalo, Francesc R.;
Chunmei Li;
Halbritter, Jan;
Elkhartoufi, Nadia;
Porath, Jonathan D.;
Cope, Heidi;
Ashley-Koch, Allison;
Gregory, Simon;
Thomas, Sophie;
Sayer, John A.;
Saunier, Sophie;
Otto, Edgar A.;
Katsanis, Nicholas;
Davis, Erica E.;
Attié-Bitach, Tania;
Hildebrandt, Friedhelm;
Leroux, Michel R.

Publication type:

Article

Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.

Published in:

Science Signaling, 2017, v. 10, n. 500, p. 1, doi. 10.1126/scisignal.aal4055

By:

Hutson, Mary R.;
Keyte, Anna L.;
Hernández-Morales, Miriam;
Gibbs, Eric;
Kupchinsky, Zachary A.;
Argyridis, Ioannis;
Erwin, Kyle N.;
Pegram, Kelly;
Kneifel, Margaret;
Rosenberg, Paul B.;
Matak, Pavle;
Luke Xie;
Grandl, Jörg;
Davis, Erica E.;
Katsanis, Nicholas;
Chunlei Liu;
Benner, Eric J.

Publication type:

Article

Triallelic inheritance: a bridge between Mendelian and multifactorial traits.

Published in:

Annals of Medicine, 2004, v. 36, n. 4, p. 262, doi. 10.1080/07853890410026214

By:

Eichers, Erica R.;
Lewis, Richard Alan;
Katsanis, Nicholas;
Lupski, James R.

Publication type:

Article

Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018044

By:

Yi-Ju Li;
Minear, Mollie A.;
Rimmler, Jacqueline;
Bei Zhao;
Balajonda, Elmer;
Hauser, Michael A.;
Allingham, R. Rand;
Eghrari, Allen O.;
Riazuddin, S. Amer;
Katsanis, Nicholas;
Gottsch, John D.;
Gregory, Simon G.;
Klintworth, Gordon K.;
Afshari, Natalie A.

Publication type:

Article

Endoglin interacts with VEGFR2 to promote angiogenesis.

Published in:

FASEB Journal, 2018, v. 32, n. 6, p. 2934, doi. 10.1096/fj.201700867RR

By:

Hongyu Tian;
Huang, Jennifer J.;
Golzio, Christelle;
Xia Gao;
Hector-Greene, Melissa;
Katsanis, Nicholas;
Blobe, Gerard C.

Publication type:

Article

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development.

Published in:

FASEB Journal, 2014, v. 28, n. 3, p. 1248, doi. 10.1096/fj.13-239178

By:

Holtzhausen, Alisha;
Golzio, Christelle;
Tam How;
Yong-Hun Lee;
Schiemann, William P.;
Katsanis, Nicholas;
Blobe, Gerard C.

Publication type:

Article

Candidate variants in TUB are associated with familial tremor.

Published in:

PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009010

By:

Sailani, M. Reza;
Jahanbani, Fereshteh;
Abbott, Charles W.;
Lee, Hayan;
Zia, Amin;
Rego, Shannon;
Winkelmann, Juliane;
Hopfner, Franziska;
Khan, Tahir N.;
Katsanis, Nicholas;
Müller, Stefanie H.;
Berg, Daniela;
Lyman, Katherine M.;
Mychajliw, Christian;
Deuschl, Günther;
Bernstein, Jonathan A.;
Kuhlenbäumer, Gregor;
Snyder, Michael P.

Publication type:

Article

Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice.

Published in:

PLoS Medicine, 2014, v. 11, n. 1, p. 1, doi. 10.1371/journal.pmed.1001584

By:

Dal-Ré, Rafael;
Katsanis, Nicholas;
Katsanis, Sara;
Parker, Lisa S.;
Ayuso, Carmen

Publication type:

Article

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 2, p. 127, doi. 10.3109/13816810.2016.1151898

By:

Liu, Yangfan P.;
Bosch, Daniëlle G. M.;
Siemiatkowska, Anna M.;
Rendtorff, Nanna Dahl;
Boonstra, F. Nienke;
Möller, Claes;
Tranebjærg, Lisbeth;
Katsanis, Nicholas;
Cremers, Frans P. M.

Publication type:

Article

Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 2, p. 95, doi. 10.1080/13816810701209545

By:

Toma, Hassanain S.;
Tan, Perciliz L.;
McKusick, Victor A.;
Katsanis, Nicholas;
Adams, N. A.

Publication type:

Article

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1489, doi. 10.1093/hmg/ddaa073

By:

Harel, Tamar;
Griffin, John N;
Arbogast, Thomas;
Monroe, Tanner O;
Palombo, Flavia;
Martinelli, Marcella;
Seri, Marco;
Pippucci, Tommaso;
Elpeleg, Orly;
Katsanis, Nicholas

Publication type:

Article

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1474, doi. 10.1093/hmg/ddy436

By:

Arbogast, Thomas;
Razaz, Parisa;
Ellegood, Jacob;
McKinstry, Spencer U;
Erdin, Serkan;
Currall, Benjamin;
Aneichyk, Tanya;
Lerch, Jason P;
Qiu, Lily R;
Rodriguiz, Ramona M;
Henkelman, R M;
Talkowski, Michael E;
Wetsel, William C;
Golzio, Christelle;
Katsanis, Nicholas

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4031, doi. 10.1093/hmg/ddt253

By:

Cardenas-Rodriguez, Magdalena;
Irigoín, Florencia;
Osborn, Daniel P.S.;
Gascue, Cecilia;
Katsanis, Nicholas;
Beales, Philip L.;
Badano, Jose L.

Publication type:

Article

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Published in:

Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040

By:

Anttonen, Anna-Kaisa;
Laari, Anni;
Kousi, Maria;
Yang, Yawei J.;
Jääskeläinen, Tiina;
Somer, Mirja;
Siintola, Eija;
Jakkula, Eveliina;
Muona, Mikko;
Tegelberg, Saara;
nnqvist, Tuula Lö;
Pihko, Helena;
Valanne, Leena;
Paetau, Anders;
Lun, Melody P.;
Hästbacka, Johanna;
Kopra, Outi;
Joensuu, Tarja;
Katsanis, Nicholas;
Lehtinen, Maria K.

Publication type:

Article

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Published in:

2017

By:

Anttonen, Anna-Kaisa;
Laari, Anni;
Kousi, Maria;
Yang, Yawei J;
Jääskeläinen, Tiina;
Somer, Mirja;
Siintola, Eija;
Jakkula, Eveliina;
Muona, Mikko;
Tegelberg, Saara;
Lönnqvist, Tuula;
Pihko, Helena;
Valanne, Leena;
Paetau, Anders;
Lun, Melody P;
Hästbacka, Johanna;
Kopra, Outi;
Joensuu, Tarja;
Katsanis, Nicholas;
Lehtinen, Maria K

Publication type:

journal article

Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 18, p. 7003, doi. 10.1523/JNEUROSCI.0018-15.2015

By:

Mao, Hanqian;
Pilaz, Louis-Jan;
McMahon, John J.;
Golzio, Christelle;
Wu, Danwei;
Shi, Lei;
Katsanis, Nicholas;
Silver, Debra L.

Publication type:

Article

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Published in:

Journal of Clinical Investigation, 2009, v. 119, n. 3, p. 428, doi. 10.1172/JCI37041

By:

Zaghloul, Norann A.;
Katsanis, Nicholas

Publication type:

Article

Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.

Published in:

Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00406-y

By:

Lopez-Pineda, Arturo;
Vernekar, Manvi;
Moreno-Grau, Sonia;
Rojas-Muñoz, Agustin;
Moatamed, Babak;
Lee, Ming Ta Michael;
Nava-Aguilar, Marco A.;
Gonzalez-Arroyo, Gilberto;
Numakura, Kensuke;
Matsuda, Yuta;
Ioannidis, Alexander;
Katsanis, Nicholas;
Takano, Tomohiro;
Bustamante, Carlos D.

Publication type:

Article

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8

By:

Janssen, Sabine;
Ramaswami, Gokul;
Davis, Erica E.;
Hurd, Toby;
Airik, Rannar;
Kasanuki, Jennifer M.;
Van Der Kraak, Lauren;
Allen, Susan J.;
Beales, Philip L.;
Katsanis, Nicholas;
Otto, Edgar A.;
Hildebrandt, Friedhelm

Publication type:

Article

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 211, doi. 10.1007/s00439-006-0197-y

By:

Eichers, Erica;
Abd-El-Barr, Muhammad;
Paylor, Richard;
Lewis, Richard;
Bi, Weimin;
Lin, Xiaodi;
Meehan, Thomas;
Stockton, David;
Wu, Samuel;
Lindsay, Elizabeth;
Justice, Monica;
Beales, Philip;
Katsanis, Nicholas;
Lupski, James

Publication type:

Article

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 66, doi. 10.1007/s004390051011

By:

Katsanis, Nicholas;
Venable, Susan;
Smith, James R.;
Lupski, James R.

Publication type:

Article

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans.

Published in:

Genetics, 2014, v. 198, n. 2, p. 723, doi. 10.1534/genetics.114.168211

By:

Brooks, Susan S.;
Wall, Alissa L.;
Golzio, Christelle;
Reid, David W.;
Kondyles, Amalia;
Willer, Jason R.;
Botti, Christina;
Nicchitta, Christopher V.;
Katsanis, Nicholas;
Davis, Erica E.

Publication type:

Article

An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1474

By:

Yulug, Isik G.;
Katsanis, Nicholas;
de Belleroche, Jacqueline;
Collinge, John;
Fisher, Elizabeth M.C.

Publication type:

Article

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1101

By:

Yulug, Isik G.;
Katsanis, Nicholas;
de Belleroche, Jacqueline;
Collinge, John;
Fisher, Elizabeth M.C.

Publication type:

Article

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173399

By:

Goetz, Sarah C.;
Bangs, Fiona;
Barrington, Chloe L.;
Katsanis, Nicholas;
Anderson, Kathryn V.

Publication type:

Article

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Nature Reviews Genetics, 2013, v. 14, n. 6, p. 415, doi. 10.1038/nrg3493

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Nature Reviews Genetics, 2005, v. 6, n. 3, p. 194, doi. 10.1038/nrg1557

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2002

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Publication type:

journal article

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Nature Reviews Genetics, 2002, v. 3, n. 10, p. 779, doi. 10.1038/nrg910

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Publication type:

Article