Search | VHL CLAP/WR-PAHO/WHO

1.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E; Michaelides, Michel; Mahroo, Omar A; Moore, Anthony T; Webster, Andrew R; Arno, Gavin.

Hum Mol Genet ; 32(4): 595-607, 2023 01 27.

Article in English | MEDLINE | ID: mdl-36084042

2.

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Laich, Yannik; Georgiou, Michalis; Fujinami, Kaoru; Daich Varela, Malena; Fujinami-Yokokawa, Yu; Hashem, Shaima Awadh; Cabral de Guimaraes, Thales Antonio; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel.

Ophthalmology ; 2024 Jan 24.

Article in English | MEDLINE | ID: mdl-38278445

3.

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Daich Varela, Malena; Laich, Yannik; Hashem, Shaima Awadh; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel.

Ophthalmology ; 130(11): 1182-1190, 2023 Nov.

Article in English | MEDLINE | ID: mdl-37331482

4.

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Daich Varela, Malena; Conti, Giovanni Marco; Malka, Samantha; Vaclavik, Veronika; Mahroo, Omar A; Webster, Andrew R; Tran, Viet; Michaelides, Michel.

Ophthalmology ; 130(12): 1327-1335, 2023 Dec.

Article in English | MEDLINE | ID: mdl-37544434

5.

Artificial intelligence in retinal disease: clinical application, challenges, and future directions.

Daich Varela, Malena; Sen, Sagnik; De Guimaraes, Thales Antonio Cabral; Kabiri, Nathaniel; Pontikos, Nikolas; Balaskas, Konstantinos; Michaelides, Michel.

Graefes Arch Clin Exp Ophthalmol ; 261(11): 3283-3297, 2023 Nov.

Article in English | MEDLINE | ID: mdl-37160501

6.

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Daich Varela, Malena; Jani, Priyam; Zein, Wadih M; D'Souza, Precilla; Wolfe, Lynne; Chisholm, Jennifer; Zalewski, Christopher; Adams, David; Warner, Blake M; Huryn, Laryssa A; Hufnagel, Robert B.

Am J Med Genet C Semin Med Genet ; 184(3): 618-630, 2020 09.

Article in English | MEDLINE | ID: mdl-32866347

7.

Ophthalmic genetics in South America.

Daich Varela, Malena; Moya, Rene; Schlottmann, Patricio G; Hufnagel, Robert B; Arberas, Claudia; Fernández, Federico M; Inga, M Eugenia; Lores, Juliana; Pachajoa, Harry; Prada, Carlos E; Sallum, Juliana M Ferraz.

Am J Med Genet C Semin Med Genet ; 184(3): 753-761, 2020 09.

Article in English | MEDLINE | ID: mdl-32856789

8.

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

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.

Am J Med Genet C Semin Med Genet ; 184(3): 631-643, 2020 09.

Article in English | MEDLINE | ID: mdl-32770643

9.

Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases.

Daich Varela, Malena; Schlottmann, Patricio; Luna Pinto, Jose; Michaelides, Michel.

Ophthalmology ; 131(2): 251-253, 2024 Feb.

Article in English | MEDLINE | ID: mdl-37848076

10.

Reply.

Daich Varela, Malena; Brooks, Brian P.

Ophthalmology ; 128(11): e214-e215, 2021 11.

Article in English | MEDLINE | ID: mdl-34481669

11.

Ocular and Systemic Findings in Adults with Uveal Coloboma.

Daich Varela, Malena; Huryn, Laryssa A; Hufnagel, Robert B; Zein, Wadih M; Blain, Delphine; Brooks, Brian P.

Ophthalmology ; 127(12): 1772-1774, 2020 12.

Article in English | MEDLINE | ID: mdl-32434002

12.

Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.

Daich Varela, Malena; Dixit, Mira; Kalitzeos, Angelos; Michaelides, Michel.

Invest Ophthalmol Vis Sci ; 65(3): 9, 2024 Mar 05.

Article in English | MEDLINE | ID: mdl-38466282

13.

Clinical, Ophthalmic and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early Onset Severe Retinal Dystrophy.

Daich Varela, Malena; Jeste, Mrunmayi; de Guimaraes, Thales A C; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Michaelides, Michel.

Am J Ophthalmol ; 2024 May 18.

Article in English | MEDLINE | ID: mdl-38768745

14.

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.

Daich Varela, Malena; Schiff, Elena; Malka, Samantha; Wright, Genevieve; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Arno, Gavin.

Invest Ophthalmol Vis Sci ; 65(2): 38, 2024 Feb 01.

Article in English | MEDLINE | ID: mdl-38411969

15.

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

Hashem, Shaima Awadh; Georgiou, Michalis; Fujinami-Yokokawa, Yu; Laich, Yannik; Daich Varela, Malena; de Guimaraes, Thales A C; Ali, Naser; Mahroo, Omar A; Webster, Andrew R; Fujinami, Kaoru; Michaelides, Michel.

Am J Ophthalmol ; 263: 1-10, 2024 02 15.

Article in English | MEDLINE | ID: mdl-38364953

16.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Georgiou, Michalis; Robson, Anthony G; Fujinami, Kaoru; de Guimarães, Thales A C; Fujinami-Yokokawa, Yu; Daich Varela, Malena; Pontikos, Nikolas; Kalitzeos, Angelos; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel.

Prog Retin Eye Res ; 100: 101244, 2024 May.

Article in English | MEDLINE | ID: mdl-38278208

17.

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela, Malena; Moya, Rene; Azevedo Souza Amaral, Rebeca; Schlottmann, Patricio G; Álvarez Mendiara, Alejandro; Francone, Aníbal; Guazi Resende, Rosane; Capalbo, Luciana; Gelvez, Nancy; López, Greizy; Morales-Acevedo, Ana M; Ossa, Rafael H; Arno, Gavin; Michaelides, Michel; Tamayo, Martha L; Ferraz Sallum, Juliana Maria.

Ophthalmol Retina ; 8(2): 163-173, 2024 Feb.

Article in English | MEDLINE | ID: mdl-37714431

18.

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin, Siying; Vermeirsch, Sandra; Pontikos, Nikolas; Martin-Gutierrez, Maria Pilar; Daich Varela, Malena; Malka, Samantha; Schiff, Elena; Knight, Hannah; Wright, Genevieve; Jurkute, Neringa; Simcoe, Mark J; Yu-Wai-Man, Patrick; Moosajee, Mariya; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R; Arno, Gavin.

Ophthalmol Retina ; 2024 Jan 12.

Article in English | MEDLINE | ID: mdl-38219857

19.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Dueñas Rey, Alfredo; Del Pozo Valero, Marta; Bouckaert, Manon; Wood, Katherine A; Van den Broeck, Filip; Daich Varela, Malena; Thomas, Huw B; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Bauwens, Miriam; Lenaerts, Hanne; Mahieu, Quinten; Josifova, Dragana; Rivolta, Carlo; O'Keefe, Raymond T; Ellingford, Jamie; Webster, Andrew R; Arno, Gavin; Ayuso, Carmen; De Zaeytijd, Julie; Leroy, Bart P; De Baere, Elfride; Coppieters, Frauke.

Genome Med ; 16(1): 7, 2024 Jan 06.

Article in English | MEDLINE | ID: mdl-38184646

20.

Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.

Daich Varela, Malena; Georgiadis, Anastasios; Michaelides, Michel.

Br J Ophthalmol ; 107(9): 1223-1230, 2023 09.

Article in English | MEDLINE | ID: mdl-36038193

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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