Ullah, A.* ; Umair, M. ; Yousaf, M.* ; Khan, S.A.* ; Nazim-Ud-Din, M.* ; Shah, K.* ; Ahmad, F.* ; Azeem, Z.* ; Ali, G.* ; Alhaddad, B. ; Rafique, A.* ; Jan, A.* ; Haack, T.B. ; Strom, T.M. ; Meitinger, T. ; Ghous, T.* ; Ahmad, W.*
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Mol. Vis. 23, 482-494 (2017)
Puk, O. ; Yan, X. ; Sabrautzki, S. ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M. ; Graw, J.
Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.
Mol. Vis. 19, 877-884 (2013)
Veiga-Crespo, P.* ; del Río, P. ; Blindert, M. ; Ueffing, M.* ; Hauck, S.M. ; Vecino, E.*
Phenotypic map of porcine retinal ganglion cells.
Mol. Vis. 19, 904-916 (2013)
Roshan, M.* ; Kabekkodu, S.P.* ; Vijaya, P.H.* ; Manjunath, K.* ; Graw, J. ; Gopinath, P.M.* ; Satyamoorthy, K.*
Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.
Mol. Vis. 18, 181-193 (2012)
Steinhart, M.R.* ; Cone, F.E.* ; Nguyen, C.* ; Nguyen, T.D.* ; Pease, M.E.* ; Puk, O. ; Graw, J. ; Oglesby, E.N.* ; Quigley, H.A.*
Mice with an induced mutation in collagen 8A2 develop larger eyes and are resistant to retinal ganglion cell damage in an experimental glaucoma model.
Mol. Vis. 18, 1093-1106 (2012)
Puk, O. ; Ahmad, N. ; Wagner, S. ; Hrabě de Angelis, M. ; Graw, J.
Microphakia and congenital cataract formation in a novel Lim2C51R mutant mouse.
Mol. Vis. 17, 1164-1171 (2011)
Siemiatkowska, A.M.* ; Arimadyo, K.* ; Moruz, L.M.* ; Astuti, G.D.* ; de Castro-Miró, M.* ; Zonneveld, M.N.* ; Strom, T.M. ; de Wijs, I.J.* ; Hoefsloot, L.H.* ; Faradz, S.M.* ; Cremers, F.P.* ; den Hollander, A.I.* ; Collin, R.W.*
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Mol. Vis. 17, 3013-3024 (2011)
Azam, M.* ; Collin, R.W.J.* ; Shah, S.T.A.* ; Shah, A.A.* ; Khan, M.I.* ; Hussain, A.* ; Sadeque, A.* ; Strom, T.M. ; Thiadens, A.A.H.J.* ; Roosing, S.* ; den Hollander, A.I.* ; Cremers, F.P.M.* ; Qamar, R.*
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
Mol. Vis. 16, 774-781 (2010)
Roshan, M.* ; Vijaya, P.H.* ; Lavanya, G.R.* ; Shama, P.K.* ; Santhiya, S.T.* ; Graw, J. ; Gopinath, P.M.* ; Satyamoorthy, K.*
A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
Mol. Vis. 16, 887-896 (2010)
Santhiya, S.T.* ; Kumar, G.S.* ; Sudhakar, P.* ; Gupta, N.* ; Klopp, N. ; Illig, T. ; Söker, T. ; Groth, M.* ; Platzer, M.* ; Gopinath, P.M.* ; Graw, J.
Molecular analysis of cataract families in India: New mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Mol. Vis. 16, 1837-1847 (2010)
Graw, J. ; Schmidt, W.* ; Minogue, P.J.* ; Rodriguez, J.* ; Tong, J.J.* ; Klopp, N. ; Illig, T. ; Ebihara, L.* ; Berthoud, V.M.* ; Beyer, E.C.*
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
Mol. Vis. 15, 1881-1885 (2009)
Schmidt, W.* ; Klopp, N. ; Illig, T. ; Graw, J.
A novel GJA8 mutation causing a recessive triangular cataract.
Mol. Vis. 14, 851-856 (2008)
Pauli, S.* ; Söker, T. ; Klopp, N. ; Illig, T. ; Engel, W.* ; Graw, J.
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
Mol. Vis. 13, 962-967 (2007)
Santhiya, S.T.* ; Söker, T. ; Klopp, N. ; Illig, T. ; Prakash, M.V.S.* ; Selvaraj, B.* ; Gopinath, P.M.* ; Graw, J.
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
Mol. Vis. 12, 768-773 (2006)
Jablonski, M.M.* ; Dalke, C. ; Wang, X.F.* ; Lu, L.* ; Manly, K.F.* ; Pretsch, W. ; Favor, J. ; Pardue, M.T.* ; Rinchik, E.M.* ; Williams, R.W.* ; Goldowitz, D.*
An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.
Mol. Vis. 11, 569-581 (2005)