Nara Lygia de Macena Sobreira (Nara Lygia D Sobreira, Nara Sobreria, Nara Sobriera, N Sobreira, Nara Sobreira)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 25

Top Topics

Pulmonary Artery

Botulinum Toxin

Top Venues

American journal of medical genetics. Part A

Scientific reports

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

This page only lists publications with an associated author ORCID identifier.

Publications

Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth S Wohler, P Dane Witmer, Nara Lygia de Macena Sobreira, Sadaf Naz
Identification and analyses of exonic and copy number variants in spastic paraplegia. Scientific reports 14 (1) (2024)
Michele P Migliavacca, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi, Camila Alves Souza, Juliana Santos Silva, José Eduardo Kroll, Matheus Burger, Rodrigo Guarischi-Sousa, Darine Villela, Guilherme L Yamamoto, Fernanda Milanezi, Nelson Horigoshi, Regina Grigolli Cesar, Werther Brunow de Carvalho, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Lucian de Souza, Renato S Procianoy, Rita C Silveria, Carla Rosenberg, Roberto Giugliani, Gustavo Aguiar Campana, Cristovam Scapulatempo-Neto, Nara Lygia de Macena Sobreira
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil. American journal of medical genetics. Part A 194 (6) (2024)
Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth S Wohler, P Dane Witmer, Nara Lygia de Macena Sobreira, Sadaf Naz
Identification and analyses of exonic and copy number variants in spastic paraplegia. Scientific reports 14 (1) (2024)
Michele P Migliavacca, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi, Camila Alves Souza, Juliana Santos Silva, José Eduardo Kroll, Matheus Burger, Rodrigo Guarischi-Sousa, Darine Villela, Guilherme L Yamamoto, Fernanda Milanezi, Nelson Horigoshi, Regina Grigolli Cesar, Werther Brunow de Carvalho, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Lucian de Souza, Renato S Procianoy, Rita C Silveria, Carla Rosenberg, Roberto Giugliani, Gustavo Aguiar Campana, Cristovam Scapulatempo-Neto, Nara Lygia de Macena Sobreira
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil. American journal of medical genetics. Part A 194 (6) (2024)
Michele P Migliavacca, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi, Camila Alves Souza, Juliana Santos Silva, José Eduardo Kroll, Matheus Burger, Rodrigo Guarischi-Sousa, Darine Villela, Guilherme L Yamamoto, Fernanda Milanezi, Nelson Horigoshi, Regina Grigolli Cesar, Werther Brunow de Carvalho, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Lucian de Souza, Renato S Procianoy, Rita C Silveria, Carla Rosenberg, Roberto Giugliani, Gustavo Aguiar Campana, Cristovam Scapulatempo-Neto, Nara Lygia de Macena Sobreira
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil. American journal of medical genetics. Part A (2024)
SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Adrienne M Hammilll, Anne Comi
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. American journal of medical genetics. Part A (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana Beatriz Alvarez Perez, David Valle, Elizabeth S Wohler, Nara Lygia de Macena Sobreira, Salmo Raskin
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 41 (2023)
SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Adrienne M Hammilll, Anne Comi
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. American journal of medical genetics. Part A 191 (4) (2023)
Daniah Albokhari, Christopher R Bailey, Francis Hwang, Clifford R Weiss, Jonathan Forsberg, Nara Lygia de Macena Sobreira
Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands. American journal of medical genetics. Part A (2023)
SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Adrienne M Hammilll, Anne Comi
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. American journal of medical genetics. Part A (2023)
S E Mitchell, Renan Paulo Martin, P Terry, S E Drant, David Valle, H Dietz, Nara Lygia de Macena Sobreira
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L. American journal of medical genetics. Part A (2023)
Angie C Jelin, Elizabeth Wohler, Renan Martin, Heather Di Carlo, William Isaacs, Joan Ko, Jason Michaud, Karin Blakemore, David Valle, Nara Lygia de Macena Sobreira, John Gearhart
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. American journal of medical genetics. Part A (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Adrienne M Hammilll, Anne Comi
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. American journal of medical genetics. Part A 191 (4) (2023)
SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Adrienne M Hammilll, Anne Comi
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. American journal of medical genetics. Part A 191 (4) (2023)
Carolina Montano, Jacquelyn F Britton, Jacqueline R Harris, Jennifer Kerkhof, Benjamin T Barnes, Jennifer A Lee, Bekim Sadikovic, Nara Lygia de Macena Sobreira, Jill A Fahrner
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1. American journal of medical genetics. Part A 188 (7) (2022)
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R. Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Assaf Sheffer, Jessica Xiao-Ling Chong, Yaron Einhorn, Miro Cupak, Nara Lygia de Macena Sobreira
Variant-level matching for diagnosis and discovery: Challenges and opportunities. Human mutation 43 (6) (2022)
Ada Hamosh, Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S Rodrigues, Corina Antonescu, Kimberly F Doheny, David Valle, Nara Lygia de Macena Sobreira
The impact of GeneMatcher on international data sharing and collaboration. Human mutation 43 (6) (2022)
Muhammad A Latif, Nara Lygia de Macena Sobreira, Kelsey S Guthrie, Mina Motaghi, Gina M Robinson, Omid Shafaat, Anna J Gong, Clifford R Weiss
Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence. American journal of medical genetics. Part A 185 (7) (2021)
Nara Lygia de Macena Sobreira, Gabriela M Repetto, Samia A Temtamy, Ana Beatriz Alvarez Perez
Using Online Mendelian Inheritance in Man in low- and middle-income countries. American journal of medical genetics. Part A 185 (11) (2021)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Bashir, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (2021)
Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S Rodrigues, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R Lupski, David Valle, Ada Hamosh, Nara Lygia de Macena Sobreira
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet journal of rare diseases 16 (1) (2021)
Nara Lygia de Macena Sobreira, Ada Hamosh
Next-generation sequencing and the evolution of data sharing. American journal of medical genetics. Part A 185 (9) (2021)
Eduardo Perrone, Stênio Burlin, Vânia D'Almeida, Ana Beatriz Alvarez Perez, Nara Lygia de Macena Sobreira, Victor Rebelo Procaci, Marcela Amaral Avelino Jacobina, Orlando Grazianni Povoas Barsottini, José Luiz Pedroso
Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome. Neurology 96 (11) (2020)