Lessons learned from the search for genes responsible for rare Mendelian disorders

por Sobreira, Nara L., Valle, David
Publicado 2016

DIAMUND: Direct Comparison of Genomes to Detect Mutations

por Salzberg, Steven L, Pertea, Mihaela, Fahrner, Jill A, Sobreira, Nara
Publicado 2014

Role of telomere shortening in anticipation of inflammatory bowel disease

por Truta, Brindusa, Wohler, Elizabeth, Sobreira, Nara, Datta, Lisa W., Brant, Steven R.
Publicado 2020

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

por Sisk, Robert A., Hufnagel, Robert B., Laham, Ailee, Wohler, Elizabeth S., Sobreira, Nara, Ahmed, Zubair M.
Publicado 2018

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan

por Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf
Publicado 2020

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

por Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Publicado 2013

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures

por Lu, Jacqueline G., Bishop, Juliet, Cheyette, Sarah, Zhulin, Igor B., Guo, Su, Sobreira, Nara, Brenner, Steven E.
Publicado 2018

Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

por Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Publicado 2015

The impact of GeneMatcher on international data sharing and collaboration

por Hamosh, Ada, Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Doheny, Kimberly F., Valle, David, Sobreira, Nara
Publicado 2022

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma

por Yousaf, Khazeema, Naz, Sadaf, Mushtaq, Asma, Wohler, Elizabeth, Sobreira, Nara, Ho, Bo-Man, Chen, Li-Jia, Chu, Wai-Kit, Bashir, Rasheeda
Publicado 2023

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

por Montano, Carolina, Britton, Jacquelyn F., Harris, Jacqueline R., Kerkhof, Jennifer, Barnes, Benjamin T., Lee, Jennifer A., Sadikovic, Bekim, Sobreira, Nara, Fahrner, Jill A.
Publicado 2022

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

por Braunstein, Evan M., Li, Ruijuan, Sobreira, Nara, Marosy, Beth, Hetrick, Kurt, Doheny, Kim, Gocke, Christopher D., Valle, David, Brodsky, Robert A., Cheng, Linzhao
Publicado 2016

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

por Mealy, Maureen A., Nam, Tai-Seung, Pardo, Santiago J., Pardo, Carlos A., Sobreira, Nara L., Avramopoulos, Dimitrios, Valle, David, Burns, Kathleen H., Levy, Michael
Publicado 2018

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

por Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo
Publicado 2023

A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family

por Wahbeh, Marah H., Peng, Xi, Bacharaki, Sofia, Hatzimanolis, Alexandros, Dimitrakopoulos, Stefanos, Wohler, Elizabeth, Yang, Xue, Yovo, Christian, Maher, Brady J., Sobreira, Nara, Stefanis, Nikos C., Avramopoulos, Dimitrios
Publicado 2023

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

por Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khairy, Paul, Samuels, Mark E., Andelfinger, Gregor
Publicado 2016

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

por Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara
Publicado 2021

Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms

por Braunstein, Evan M., Chen, Hang, Juarez, Felicia, Yang, Fanghan, Tao, Lindsay, Makhlin, Igor, Williams, Donna M., Chaturvedi, Shruti, Pallavajjala, Aparna, Karantanos, Theodoros, Martin, Renan, Wohler, Elizabeth, Sobreira, Nara, Gocke, Christopher D., Moliterno, Alison R.
Publicado 2021

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

por 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.
Publicado 2010

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

por Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara
Publicado 2022