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Select item 47553781.

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

Anja K Mayer, Klaus Rohrschneider, Tim M Strom, Nicola Glöckle, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh

Eur J Hum Genet. 2016 Mar; 24(3): 459–462. Published online 2015 Jul 8. doi: 10.1038/ejhg.2015.144

PMCID:: PMC4755378

Abstract Article PDF–885K

Select item 45711132.

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome

Hai-Rong Shu, Huai Bi, Yang-Chun Pan, Hang-Yu Xu, Jian-Xin Song, Jie Hu

BMC Med Genet. 2015; 16: 83. Published online 2015 Sep 16. doi: 10.1186/s12881-015-0223-9

PMCID:: PMC4571113

Abstract Article PDF–1.0M

Select item 45853433.

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

Rodrigo Matsui, Artur V. Cideciyan, Sharon B. Schwartz, Alexander Sumaroka, Alejandro J. Roman, Malgorzata Swider, Wei Chieh Huang, Rebecca Sheplock, Samuel G. Jacobson

Invest Ophthalmol Vis Sci. 2015 Sep; 56(10): 6007–6018. Published online 2015 Sep 22. doi: 10.1167/iovs.15-17174

PMCID:: PMC4585343

Abstract Article PDF–4.6M

Select item 45881334.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Stephen P. Daiger, Sara J. Bowne, Lori S. Sullivan

Cold Spring Harb Perspect Med. 2015 Oct; 5(10): a017129. doi: 10.1101/cshperspect.a017129

PMCID:: PMC4588133

Abstract Article PDF–494K

Select item 45920795.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey, Heather B Steele-Stallard, Anthony T Moore, Karen P Steel, Linda M Luxon, Elise Héon, Maria Bitner-Glindzicz, Andrew R Webster

Eur J Hum Genet. 2015 Oct; 23(10): 1318–1327. Published online 2015 Feb 4. doi: 10.1038/ejhg.2014.283

PMCID:: PMC4592079

Abstract Article PDF–1.9M

Select item 45943656.

Meckel Gruber syndrome, A case report

Kiper Aslan, Elif Külahçı Aslan, Adnan Orhan, Mehmet Aral Atalay

Organogenesis. 2015 Apr; 11(2): 87–92. Published online 2015 Jun 2. doi: 10.1080/15476278.2015.1055431

PMCID:: PMC4594365

Abstract Article PDF–464K

Select item 45996787.

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31

Pranav Dinesh Mathur, Junhuang Zou, Tihua Zheng, Ali Almishaal, Yong Wang, Qian Chen, Le Wang, Deepti Vashist, Steve Brown, Albert Park, Jun Yang

Hum Mol Genet. 2015 Nov 1; 24(21): 6213–6228. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv339

PMCID:: PMC4599678

Abstract Article PDF–2.0M

Select item 46769368.

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

Osnat Eidinger, Rina Leibu, Hadas Newman, Leah Rizel, Ido Perlman, Tamar Ben-Yosef

Mol Vis. 2015; 21: 1295–1306. Published online 2015 Dec 8.

PMCID:: PMC4676936

Abstract Article PDF–3.4M

Select item 46904909.

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis

Adam P. DeLuca, S. Scott Whitmore, Jenna Barnes, Tasneem P. Sharma, Trudi A. Westfall, C. Anthony Scott, Matthew C. Weed, Jill S. Wiley, Luke A. Wiley, Rebecca M. Johnston, Michael J. Schnieders, Steven R. Lentz, Budd A. Tucker, Robert F. Mullins, Todd E. Scheetz, Edwin M. Stone, Diane C. Slusarski

Hum Mol Genet. 2016 Jan 1; 25(1): 44–56. Published online 2015 Oct 22. doi: 10.1093/hmg/ddv446

PMCID:: PMC4690490

Abstract Article PDF–763K

Select item 469657910.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

Emine Korkmaz, Beata S. Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K. Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer, the PodoNet Consortium

J Am Soc Nephrol. 2016 Jan; 27(1): 63–68. Published online 2015 May 12. doi: 10.1681/ASN.2014121240

PMCID:: PMC4696579

Abstract Article

Select item 470060011.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron

BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z

PMCID:: PMC4700600

Abstract Article PDF–935K

Select item 472524412.

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

Xin Jin, Ling-Hui Qu, Bao-Ke Hou, Hai-Wei Xu, Xiao-Hong Meng, Chi-Pui Pang, Zheng-Qin Yin

Biosci Rep. 2016 Feb; 36(1): e00289. Published online 2016 Jan 22. doi: 10.1042/BSR20150131

PMCID:: PMC4725244

Abstract Article PDF–866K

Select item 472629713.

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

Yanan Di, Lulin Huang, Periasamy Sundaresan, Shujin Li, Ramasamy Kim, Bibhuti Ballav Saikia, Chao Qu, Xiong Zhu, Yu Zhou, Zhilin Jiang, Lin Zhang, Ying Lin, Dingding Zhang, Yuanfen Li, Houbin Zhang, Yibing Yin, Fang Lu, Xianjun Zhu, Zhenglin Yang

Sci Rep. 2016; 6: 19432. Published online 2016 Jan 20. doi: 10.1038/srep19432

PMCID:: PMC4726297

Abstract Article PDF–2.0M

Select item 472639214.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Raquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H. Lelieveld, Elena Aller, Miguel Angel Lopez-Martinez, Mª Isabel López-Molina, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Christian Gilissen, Jose M Millan, Almudena Avila-Fernandez, Carmen Ayuso

Sci Rep. 2016; 6: 19531. Published online 2016 Jan 25. doi: 10.1038/srep19531

Correction in:: Sci Rep. 2016; 6: 24843.

PMCID:: PMC4726392

Abstract Article PDF–829K

Select item 474319815.

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger

BMC Med Genet. 2016; 17: 10. Published online 2016 Feb 4. doi: 10.1186/s12881-016-0271-9

PMCID:: PMC4743198

Abstract Article PDF–623K

Select item 475007116.

Assessment of the latest NGS enrichment capture methods in clinical context

Gema García-García, David Baux, Valérie Faugère, Mélody Moclyn, Michel Koenig, Mireille Claustres, Anne-Françoise Roux

Sci Rep. 2016; 6: 20948. Published online 2016 Feb 11. doi: 10.1038/srep20948

PMCID:: PMC4750071

Abstract Article PDF–858K

Select item 456619617.

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Elise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, Eric Souied, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Orphanet J Rare Dis. 2015; 10: 85. Published online 2015 Jun 24. doi: 10.1186/s13023-015-0300-3

PMCID:: PMC4566196

Abstract Article PDF–1.9M

Select item 475805718.

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Bart P. Leroy, Fanny Depasse, Thomas Langmann, Elfride De Baere

Sci Rep. 2016; 6: 21307. Published online 2016 Feb 18. doi: 10.1038/srep21307