Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, Salma, Robbins, Sarah M, LM Sobreira, Nara, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Al Hamed, Sania, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
Sobreira, Nara L M, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B
Published in PLoS genetics (01.05.2010)
Published in PLoS genetics (01.05.2010)
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The characterization of twenty sequenced human genomes
Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara L M, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing
Sobreira, Nara L M, Gnanakkan, Veena, Walsh, Michael, Marosy, Beth, Wohler, Elizabeth, Thomas, George, Hoover-Fong, Julie E, Hamosh, Ada, Wheelan, Sarah J, Valle, David
Published in Genome research (01.10.2011)
Published in Genome research (01.10.2011)
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Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion
Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, Ana Beatriz A.
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene: e1000991
Sobreira, Nara LM, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B
Published in PLoS genetics (01.06.2010)
Published in PLoS genetics (01.06.2010)
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The Characterization of Twenty Sequenced Human Genomes: e1001111
Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara LM, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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