A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients
Hahn, Leo C, van Schooneveld, Mary J, Wesseling, Nieneke L, Florijn, Ralph J, Ten Brink, Jacoline B, Lissenberg-Witte, Birgit I, Strubbe, Ine, Meester-Smoor, Magda A, Thiadens, Alberta A, Diederen, Roselie M, van Cauwenbergh, Caroline, de Zaeytijd, Julie, Walraedt, Sophie, de Baere, Elfride, Klaver, Caroline C W, Ossewaarde-van Norel, Jeannette, van den Born, L Ingeborgh, Hoyng, Carel B, van Genderen, Maria M, Sieving, Paul A, Leroy, Bart P, Bergen, Arthur A, Boon, Camiel J F
Published in Ophthalmology (Rochester, Minn.) (01.02.2022)
Published in Ophthalmology (Rochester, Minn.) (01.02.2022)
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Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness
Bijveld, Mieke M.C., MSc, Florijn, Ralph J., PhD, Bergen, Arthur A.B., PhD, van den Born, L. Ingeborgh, MD, PhD, Kamermans, Maarten, PhD, Prick, Liesbeth, MD, PhD, Riemslag, Frans C.C., PhD, van Schooneveld, Mary J., MD, PhD, Kappers, Astrid M.L., PhD, van Genderen, Maria M., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.10.2013)
Published in Ophthalmology (Rochester, Minn.) (01.10.2013)
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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis
Hettinga, Ymkje M., MD, van Genderen, Maria M., MD, PhD, Wieringa, Wietse, MPA, Ossewaarde-van Norel, Jeannette, MD, PhD, de Boer, Joke H., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
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Electroretinogram abnormalities in nonanterior childhood uveitis
Brouwer, Anna H., Genderen, Maria. M., Wit, Gerard C., Boer, Joke H.
Published in Acta ophthalmologica (Oxford, England) (01.06.2019)
Published in Acta ophthalmologica (Oxford, England) (01.06.2019)
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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.
Published in Scientific reports (03.10.2024)
Published in Scientific reports (03.10.2024)
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Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Littink, Karin W, Stappers, Patricia T Y, Riemslag, Frans C C, Talsma, Herman E, van Genderen, Maria M, Cremers, Frans P M, Collin, Rob W J, van den Born, L Ingeborgh
Published in Genes (30.01.2018)
Published in Genes (30.01.2018)
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A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens
Littink, Karin W., MD, PhD, van Genderen, Maria M., MD, PhD, van Schooneveld, Mary J., MD, PhD, Visser, Linda, MD, Riemslag, Frans C.C., PhD, Keunen, Jan E.E., MD, PhD, Bakker, Bjorn, BSc, Zonneveld, Marijke N., BSc, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, van den Born, L. Ingeborgh, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.09.2012)
Published in Ophthalmology (Rochester, Minn.) (01.09.2012)
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Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies
Talib, Mays, Schooneveld, Mary J., Wijnholds, Jan, Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Published in Acta ophthalmologica (Oxford, England) (01.05.2021)
Published in Acta ophthalmologica (Oxford, England) (01.05.2021)
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LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Pierrache, Laurence H M, Ghafaryasl, Babak, Khan, Muhammad I, Yzer, Susanne, van Genderen, Maria M, Schuil, José, Boonstra, F Nienke, Pott, Jan W R, de Faber, Jan Tjeerd H N, Tjon-Fo-Sang, Martha J H, Vermeer, Koenraad A, Cremers, Frans P M, Klaver, Caroline C W, van den Born, L Ingeborgh
Published in Retina (Philadelphia, Pa.) (01.09.2020)
Published in Retina (Philadelphia, Pa.) (01.09.2020)
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Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
de Muijnck, Cansu, van Schooneveld, Mary J., Plomp, Astrid S., Rodenburg, Richard J., van Genderen, Maria M., Boon, Camiel J.F.
Published in American journal of ophthalmology case reports (01.06.2024)
Published in American journal of ophthalmology case reports (01.06.2024)
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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E. L. M., Neveling, Kornelia
Published in Npj genomic medicine (04.05.2024)
Published in Npj genomic medicine (04.05.2024)
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Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia
Published in Npj genomic medicine (09.11.2022)
Published in Npj genomic medicine (09.11.2022)
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