Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia

por Schiff, Elena R., Tailor, Vijay K., Chan, Hwei Wuen, Theodorou, Maria, Webster, Andrew R., Moosajee, Mariya
Publicado 2021

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

por Chan, Hwei Wuen, Schiff, Elena R., Tailor, Vijay K., Malka, Samantha, Neveu, Magella M., Theodorou, Maria, Moosajee, Mariya
Publicado 2021

Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease

por Ben-Yosef, Noam, Frampton, Matthew, Schiff, Elena R, Daher, Saleh, Abu Baker, Fadi, Safadi, Rifaat, Israeli, Eran, Segal, Anthony W, Levine, Adam P
Publicado 2021

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

por Martin-Gutierrez, Maria Pilar, Schiff, Elena R., Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
Publicado 2022

Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families

por Levine, Adam P., Pontikos, Nikolas, Schiff, Elena R., Jostins, Luke, Speed, Doug, Lovat, Laurence B., Barrett, Jeffrey C., Grasberger, Helmut, Plagnol, Vincent, Segal, Anthony W.
Publicado 2016

A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population

por Schiff, Elena R., Frampton, Matthew, Semplici, Francesca, Bloom, Stuart L., McCartney, Sara A., Vega, Roser, Lovat, Laurence B., Wood, Eleanor, Hart, Ailsa L., Crespi, Daniel, Furman, Mark A., Mann, Steven, Murray, Charles D., Segal, Anthony W., Levine, Adam P.
Publicado 2018

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

por Schiff, Elena R., Daich Varela, Malena, Robson, Anthony G., Pierpoint, Karen, Ba‐Abbad, Rola, Nutan, Savita, Zein, Wadih M., Ullah, Ehsan, Huryn, Laryssa A., Tuupanen, Sari, Mahroo, Omar A., Michaelides, Michel, Burke, Derek, Harvey, Katie, Arno, Gavin, Hufnagel, Robert B., Webster, Andrew R.
Publicado 2020

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

por Khan, Mubeen, Arno, Gavin, Fakin, Ana, Parfitt, David A., Dhooge, Patty P.A., Albert, Silvia, Bax, Nathalie M., Duijkers, Lonneke, Niblock, Michael, Hau, Kwan L., Bloch, Edward, Schiff, Elena R., Piccolo, Davide, Hogden, Michael C., Hoyng, Carel B., Webster, Andrew R., Cremers, Frans P.M., Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.
Publicado 2020

Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

por Lubbe, Steven J., Escott-Price, Valentina, Gibbs, J. Raphael, Nalls, Mike A., Bras, Jose, Price, T. Ryan, Nicolas, Aude, Jansen, Iris E., Mok, Kin Y., Pittman, Alan M., Tomkins, James E., Lewis, Patrick A., Noyce, Alastair J., Lesage, Suzanne, Sharma, Manu, Schiff, Elena R., Levine, Adam P., Brice, Alexis, Gasser, Thomas, Hardy, John, Heutink, Peter, Wood, Nicholas W., Singleton, Andrew B., Williams, Nigel M., Morris, Huw R.
Publicado 2016

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

por Wu, Yiming, Gettler, Kyle, Kars, Meltem Ece, Giri, Mamta, Li, Dalin, Bayrak, Cigdem Sevim, Zhang, Peng, Jain, Aayushee, Maffucci, Patrick, Sabic, Ksenija, Van Vleck, Tielman, Nadkarni, Girish, Denson, Lee A., Ostrer, Harry, Levine, Adam P., Schiff, Elena R., Segal, Anthony W., Kugathasan, Subra, Stenson, Peter D., Cooper, David N., Philip Schumm, L., Snapper, Scott, Daly, Mark J., Haritunians, Talin, Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Brant, Steven R., McGovern, Dermot P. B., Cho, Judy H., Itan, Yuval
Publicado 2023

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

por Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, Leroux, Michel R.
Publicado 2022