PMC Links for OMIM (Select 617782) - PMC

Select item 73493141.

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M. Leal

Genes (Basel) 2020 Jun; 11(6): 687. Published online 2020 Jun 23. doi: 10.3390/genes11060687

PMCID:: PMC7349314

Abstract Article PDF–1.0M

Select item 60824202.

De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

Isabelle Schrauwen, Elina Kari, Jacob Mattox, Lorida Llaci, Joanna Smeeton, Marcus Naymik, David W. Raible, James A. Knowles, J. Gage Crump, Matthew J. Huentelman, Rick A. Friedman

Hum Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Hum Genet. 2018 Jul; 137(6-7): 459–470. Published online 2018 Jun 28. doi: 10.1007/s00439-018-1898-8

PMCID:: PMC6082420

Abstract Article PDF–887K

Select item 56736693.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre

Am J Hum Genet. 2017 Nov 2; 101(5): 803–814. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.026

PMCID:: PMC5673669

Abstract Article PDF–2.4M

Select item 56736364.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P. Capone, David A. Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A. Otto, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S. Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A.E. van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B. Goldstein, Richard P. Lifton, Nicholas Katsanis, Erica E. Davis, Ali G. Gharavi

Am J Hum Genet. 2017 Nov 2; 101(5): 789–802. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.018

Correction in:: Am J Hum Genet. 2017 Dec 7; 101(6): 1034.

PMCID:: PMC5673636

Abstract Article PDF–1.0M

Select item 55863735.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

Patrick D. Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W. Darbro, Xiaojing Hong, Jason C. Clarke, Kevin A. Peterson, James Denegre, Michael Schneider, Caroline R. Sussman, Lone Sunde, Dorte L. Lildballe, Jens Michael Hertz, Robert A. Cornell, Stephen A. Murray, J. Robert Manak

Genetics. 2017 Sep; 207(1): 215–228. Published online 2017 Jul 26. doi: 10.1534/genetics.117.1125

PMCID:: PMC5586373

Abstract Article PDF–1.4M

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