Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

by Monika B Dolinska, Elena Kovaleva, Peter Backlund, Paul T Wingfield, Brian P Brooks, Yuri V Sergeev
Published 2014-01-01

aldh7a1 regulates eye and limb development in zebrafish.

by Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks
Published 2014-01-01

Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System

by Brian P. Brooks, Henry L. Paulson, Diane E. Merry, Edgar F. Salazar-Grueso, Albert O. Brinkmann, Elizabeth M. Wilson, Kenneth H. Fischbeck
Published 1997-01-01

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

by Jasmine Y. Serpen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Denise Cunningham, Elizabeth C. Murphy, Amy Turriff, Brian P. Brooks, Laryssa A. Huryn
Published 2020-01-01

In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7

by Jacob A. Parker, Shabbir H. Merchant, Sanaz Attaripour-Isfahani, Hyun Joo Cho, Patrick McGurrin, Brian P. Brooks, Albert R. La Spada, Mark Hallett, Laryssa A. Huryn, Silvina G. Horovitz
Published 2021-01-01

Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.

by Ramakrishna P Alur, Camasamudram Vijayasarathy, Jacob D Brown, Mohit Mehtani, Ighovie F Onojafe, Yuri V Sergeev, Elangovan Boobalan, Marypat Jones, Ke Tang, Haiquan Liu, Chun-Hong Xia, Xiaohua Gong, Brian P Brooks
Published 2010-03-01

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

by Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Published 2017-01-01

Nolz1 expression is required in dopaminergic axon guidance and striatal innervation

by Clement Soleilhavoup, Marco Travaglio, Kieran Patrick, Pedro Garção, Elangovan Boobalan, Youri Adolfs, Ruth V. Spriggs, Emma Moles-Garcia, Dalbir Dhiraj, Tony Oosterveen, Sarah L. Ferri, Ted Abel, Edward S. Brodkin, R. Jeroen Pasterkamp, Brian P. Brooks, Lia Panman
Published 2020-06-01

Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

by Joanne Li, Tao Liu, Oliver J. Flynn, Amy Turriff, Zhuolin Liu, Ehsan Ullah, Jianfei Liu, Alfredo Dubra, Mary A. Johnson, Brian P. Brooks, Robert B. Hufnagel, Daniel X. Hammer, Laryssa A. Huryn, Brett G. Jeffrey, Johnny Tam
Published 2021-03-01

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

by Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop
Published 2017-07-01

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

by Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Published 2019-03-01