1. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. (5th June 2020) Authors: Stroup, Bridget M; Marom, Ronit; Li, Xiaohui; Hsu, Chih-Wei; Chang, Cheng-Yen; Truong, Luan D; Dawson, Brian; Grafe, Ingo; Chen, Yuqing; Jiang, Ming-Ming; Lanza, Denise; Green, Jennie Rose; Sun, Qin; Barrish, J P; Ani, Safa; Christiansen, Audrey E; Seavitt, John R; Dickinson, Mary E; Kheradmand, ... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Issue 8 (5th May 2021) Authors: Keehan, Laura; Jiang, Ming‐Ming; Li, Xiaohui; Marom, Ronit; Dai, Hongzheng; Murdock, David; Liu, Pengfei; Hunter, Jill V.; Heaney, Jason D.; Robak, Laurie; Emrick, Lisa; Lotze, Timothy; Blieden, Lauren S.; Lewis, Richard Alan; Levin, Alex V.; Capasso, Jenina; Craigen, William J.; Rosenfeld, Jill ... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2315 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Somnolent Neonate With Hypothermia and Posturing. (July 2020) Authors: Nguyen, Jessica M.; Kaushal, Sonia; Glinton, Kevin E.; Marom, Ronit Journal: Clinical pediatrics Issue: Volume 59:Number 8(2020) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation. (16th February 2015) Authors: Lietman, Caressa D; Marom, Ronit; Munivez, Elda; Bertin, Terry K; Jiang, Ming‐Ming; Chen, Yuqing; Dawson, Brian; Weis, Mary Ann; Eyre, David; Lee, Brendan Journal: Journal of bone and mineral research Issue: Volume 30:Number 3(2015:Mar.) Page Start: 489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation. (March 2015) Authors: Lietman, Caressa D; Marom, Ronit; Munivez, Elda; Bertin, Terry K; Jiang, Ming‐Ming; Chen, Yuqing; Dawson, Brian; Weis, Mary Ann; Eyre, David; Lee, Brendan Journal: Journal of bone and mineral research Issue: Volume 30:Number 3(2015:Mar.) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Issue 10 (10th July 2017) Authors: Marom, Ronit; Jain, Mahim; Burrage, Lindsay C.; Song, I‐Wen; Graham, Brett H.; Brown, Chester W.; Stevens, Servi J.C.; Stegmann, Alexander P.A.; Gunter, Andrew T.; Kaplan, Julie D.; Gavrilova, Ralitza H.; Shinawi, Marwan; Rosenfeld, Jill A.; Bae, Yangjin; Tran, Alyssa A.; Chen, Yuqing; Lu, James ... Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018) Authors: Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ... Journal: EMBO journal Issue: Volume 37:Number 23(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neonatal fractures as a presenting feature of LMOD3‐associated congenital myopathy. Issue 10 (16th August 2017) Authors: Abbott, Megan; Jain, Mahim; Pferdehirt, Rachel; Chen, Yuqing; Tran, Alyssa; Duz, Mehmet B.; Seven, Mehmet; Gibbs, Richard A.; Muzny, Donna; Lee, Brendan; Marom, Ronit; Burrage, Lindsay C. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. New Face for Chromatin‐Related Mesenchymal Modulator: n‐CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes. Issue 9 (26th May 2015) Authors: Salomon‐Kent, Ronit; Marom, Ronit; John, Sam; Dundr, Miroslav; Schiltz, Louis R.; Gutierrez, Jose; Workman, Jerry; Benayahu, Dafna; Hager, Gordon L. Journal: Journal of cellular physiology Issue: Volume 230:Issue 9(2015:Sep.) Page Start: 2270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗