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1
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia
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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

Deml, B. ; Reis, L.M. ; Maheshwari, M. ; Griffis, C. ; Bick, D. ; Semina, E.V.

Clinical genetics, 2014-11, Vol.86 (5), p.475-481 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree
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Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree

Hendee, Kathryn ; Wang, Lauren Weiping ; Reis, Linda M. ; Rice, Gregory M. ; Apte, Suneel S. ; Semina, Elena V.

Human mutation, 2017-11, Vol.38 (11), p.1485-1490 [Periódico revisado por pares]

United States: Hindawi Limited

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3
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Reis, Linda M. ; Costakos, Deborah ; Wheeler, Patricia G. ; Bardakjian, Tanya ; Schneider, Adele ; Fung, Simon S. M. ; Semina, Elena V.

Clinical genetics, 2021-03, Vol.99 (3), p.437-442 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Reproducibility of the NanoString 22‐gene molecular subgroup assay for improved prognostic prediction of medulloblastoma
Reproducibility of the NanoString 22‐gene molecular subgroup assay for improved prognostic prediction of medulloblastoma
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Reproducibility of the NanoString 22‐gene molecular subgroup assay for improved prognostic prediction of medulloblastoma

Leal, Letícia F. ; Evangelista, Adriane F. ; de Paula, Flávia E. ; Caravina Almeida, Gisele ; Carloni, Adriana C. ; Saggioro, Fabiano ; Stavale, João N. ; Malheiros, Suzana M.F. ; Mançano, Bruna ; de Oliveira, Marco A. ; Luu, Betty ; Neder, Luciano ; Taylor, Michael D. ; Reis, Rui M.

Neuropathology, 2018-10, Vol.38 (5), p.475-483 [Periódico revisado por pares]

Melbourne: John Wiley & Sons Australia, Ltd

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5
Absence of microsatellite instability and BRAF (V600E) mutation in testicular germ cell tumors
Absence of microsatellite instability and BRAF (V600E) mutation in testicular germ cell tumors
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Absence of microsatellite instability and BRAF (V600E) mutation in testicular germ cell tumors

Cárcano, F. M. ; Lengert, A. H. ; Vidal, D. O. ; Scapulatempo Neto, C. ; Queiroz, L. ; Marques, H. ; Baltazar, F. ; Berardinelli, G.N. ; Martinelli, C. M. S. ; Silva, E. C. A. ; Reis, R.M. ; Lopes, L. F.

Andrology (Oxford), 2016-09, Vol.4 (5), p.866-872 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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6
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

Schneider, Adele ; Bardakjian, Tanya ; Reis, Linda M. ; Tyler, Rebecca C. ; Semina, Elena V.

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2706-2715 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism
The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism
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The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism

Batista, Rui ; Cruvinel‐Carloni, Adriana ; Vinagre, João ; Peixoto, Joana ; Catarino, Telmo A. ; Campanella, Nathalia Cristina ; Menezes, Weder ; Becker, Aline Paixão ; de Almeida, Gisele Caravina ; Matsushita, Marcus M. ; Clara, Carlos ; Neder, Luciano ; Viana‐Pereira, Marta ; Honavar, Mrinalini ; Castro, Lígia ; Lopes, José Manuel ; Carvalho, Bruno ; Vaz, Rui Manuel ; Máximo, Valdemar ; Soares, Paula ; Sobrinho‐Simões, Manuel ; Reis, Rui Manuel ; Lima, Jorge

International journal of cancer, 2016-07, Vol.139 (2), p.414-423 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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8
FOXE3 plays a significant role in autosomal recessive microphthalmia
FOXE3 plays a significant role in autosomal recessive microphthalmia
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FOXE3 plays a significant role in autosomal recessive microphthalmia

Reis, Linda M. ; Tyler, Rebecca C. ; Schneider, Adele ; Bardakjian, Tanya ; Stoler, Joan M. ; Melancon, Serge B. ; Semina, Elena V.

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.582-590 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
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Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

Barbosa, M ; Sousa, AB ; Medeira, A ; Lourenço, T ; Saraiva, J ; Pinto-Basto, J ; Soares, G ; Fortuna, AM ; Superti-Furga, A ; Mittaz, L ; Reis-Lima, M ; Bonafé, L

Clinical genetics, 2011-12, Vol.80 (6), p.550-557 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
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Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome

Schanze, Denny ; Neubauer, Dorothée ; Cormier-Daire, Valerie ; Delrue, Marie-Ange ; Dieux-Coeslier, Anne ; Hasegawa, Tomonobu ; Holmberg, Eva E. ; Koenig, Rainer ; Krueger, Gabriele ; Schanze, Ina ; Seemanova, Eva ; Shaw, Adam C. ; Vogt, Julie ; Volleth, Marianne ; Reis, André ; Meinecke, Peter ; Hennekam, Raoul C.M. ; Zenker, Martin

Human mutation, 2014-09, Vol.35 (9), p.1092-1100 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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