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Publication

Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations

Kamal Khan, Dina F Ahram, Yangfan P Liu, Rik Westland, Rosemary V Sampogna, Nicholas Katsanis, Erica E Davis, Simone Sanna-Cherchi

Publication

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Farid Ullah, Waqar Rauf, Kamal Khan, Sheraz Khan, Katrina M Bell, Vanessa Cristina de Oliveira, Muhammad Tariq, Shabnam Bakhshalizadeh, Philippe Touraine, Nicholas Katsanis, Andrew Sinclair, Sijie He, Elena J Tucker, Shahid M Baig, Erica E Davis

Publication

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.

Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, Sheraz Khan, Azita Sadeghpour, Laurențiu C Bohîlțea, Erica E Davis, Mihaela Bălgrădean

Publication

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Xenia Latypova, Marie Vincent, Alice Mollé, Oluwadamilare A Adebambo, Cynthia Fourgeux, Tahir N Khan, Alfonso Caro, Monica Rosello, Carmen Orellana, Dmitriy Niyazov, Damien Lederer, Marie Deprez, Yline Capri, Peter Kannu, Anne Claude Tabet, Jonathan Levy, Emmelien Aten, Nicolette den Hollander, Miranda Splitt, Jagdeep Walia, Ladonna L Immken, Pawel Stankiewicz, Kirsty McWalter, Sharon Suchy, Raymond J Louie, Shannon Bell, Roger E Stevenson, Justine Rousseau, Catherine Willem, Christelle Retiere, Xiang-Jiao Yang, Philippe M Campeau, Francisco Martinez, Jill A Rosenfeld, Cédric Le Caignec, Sébastien Küry, Sandra Mercier, Kamran Moradkhani, Solène Conrad, Thomas Besnard, Benjamin Cogné, Nicholas Katsanis, Stéphane Bézieau, Jeremie Poschmann, Erica E Davis, Bertrand Isidor

Publication

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Patricia L Weng, Amar J Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina F Ahram, Vimla S Aggarwal, Louise E Bier, Erin L Heinzen, Ana C Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M Kitzler, Verena Klämbt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B Beck, Janine Altmüller, Marcus R Benz, Shoji Yano, Mohamad A Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S AbuMaziad, Julian A Martinez-Agosto, Ora Yadin, Jonathan Zuckerman, Arang Kim, Ulrike John-Kroegel, Amanda V Tyndall, Jillian S Parboosingh, A Micheil Innes, Agnieszka Bierzynska, Ania B Koziell, Mordi Muorah, Moin A Saleem, Julia Hoefele, Korbinian M Riedhammer, Ali G Gharavi, Vaidehi Jobanputra, Emma Pierce-Hoffman, Eleanor G Seaby, Anne O'Donnell-Luria, Heidi L Rehm, Shrikant Mane, Vivette D D'Agati, Martin R Pollak, Gian Marco Ghiggeri, Richard P Lifton, David B Goldstein, Erica E Davis, Friedhelm Hildebrandt, Simone Sanna-Cherchi

Publication

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E Davis, Hélène Dollfus, Jean Muller

Publication

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A Lewis, Michael E Talkowski, Hélène Dollfus, Manolis Kellis, Erica E Davis, Shamil R Sunyaev, Nicholas Katsanis

Publication

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Erica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, David L Keefe, Lacey Plummer, Kamal Khan, Blazej Meczekalski, Karen E Heath, Vanesa Lopez-Gonzalez, Mary J Ballesta-Martinez, Gomathi Margabanthu, Susan Price, James Greening, Raja Brauner, Irene Valenzuela, Ivon Cusco, Paula Fernandez-Alvarez, Margaret E Wierman, Taibo Li, Kasper Lage, Priscila Sales Barroso, Yee-Ming Chan, William F Crowley, Nicholas Katsanis

Publication

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Benjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, Dominique Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J Bowne, Elizabeth L Cadena, Stephen P Daiger, Kinga M Bujakowska, Eric A Pierce, Michael Gorin, Nicholas Katsanis, Stéphane Bézieau, Simon M Petersen-Jones, Laurence M Occelli, Leslie A Lyons, Laurence Legeai-Mallet, Lori S Sullivan, Erica E Davis, Bertrand Isidor

Publication

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Valentina Del Dotto, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gusic, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Francesca Tagliavini, Evan Harris Baugh, Bertil Macao, Zsolt Szilagyi, Camille Peron, Margaret A Gustafson, Kamal Khan, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Maria Lucia Valentino, Rocco Liguori, Vandana Shashi, Jennifer Sullivan, Shashi Nagaraj, Mays El-Dairi, Alessandro Iannaccone, Ioana Cutcutache, Enrico Bertini, Rosalba Carrozzo, Francesco Emma, Francesca Diomedi-Camassei, Claudia Zanna, Martin Armstrong, Matthew Page, Nicholas Stong, Sylvia Boesch, Robert Kopajtich, Saskia Wortmann, Wolfgang Sperl, Erica E Davis, William C Copeland, Marco Seri, Maria Falkenberg, Holger Prokisch, Nicholas Katsanis, Valeria Tiranti, Tommaso Pippucci, Valerio Carelli

Publication

A Genocentric Approach to Discovery of Mendelian Disorders

Adam W Hansen, Mullai Murugan, He Li, Michael M Khayat, Liwen Wang, Jill Rosenfeld, B Kim Andrews, Shalini N Jhangiani, Zeynep H Coban Akdemir, Fritz J Sedlazeck, Allison E Ashley-Koch, Pengfei Liu, Donna M Muzny, Erica E Davis, Nicholas Katsanis, Aniko Sabo, Jennifer E Posey, Yaping Yang, Michael F Wangler, Christine M Eng, V Reid Sutton, James R Lupski, Eric Boerwinkle, Richard A Gibbs

Publication

Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.

Marie R Mooney, Erica E Davis, Nicholas Katsanis

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