Nara LygiaDe MacenaSobreiraMD

PubMed

• Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L.
  S E Mitchell, R P Martin, P Terry, S E Drant, D Valle, H Dietz, N Sobreira> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 1 citations
  Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.
  SangEun Yeom, Bernard Cohen, Clifford R Weiss, Carolina Montano, Elizabeth Wohler, Nara Sobreira, Adrienne M Hammill, Anne Comi> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 12 citations
  Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
  Carolina Montano, Jacquelyn F Britton, Jacqueline R Harris, Jennifer Kerkhof, Benjamin T Barnes, Jennifer A Lee, Bekim Sadikovic, Nara Sobreira, Jill A Fahrner> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 37 citations
  Centers for Mendelian Genomics: A decade of facilitating gene discovery.
  Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly ...> ;Genetics in Medicine. 2022 Apr 1
• 4 citations
  Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
  Rabab Khairat, Rasha Elhossini, Nara Sobreira, Elizabeth Wohler, Ghada A. Otaify, Amal M. Mohamed, Ehab R. Abdel Raouf, Inas S. M. Sayed, Mona Aglan, Samira Ismail, Sa...> ;European Journal of Medical Genetics. 2022 Jan 1
• 6 citations
  Embryonic lethal genetic variants and chromosomally normal pregnancy loss.
  Jennie Kline, Badri N. Vardarajan, Avinash Abhyankar, Sonja Kytömaa, Bruce Levin, Nara Sobreira, Andrew Tang, Amanda Thomas-Wilson, Ruiwei Zhang, Vaidehi Jobanputra> ;Fertility and Sterility. 2021 Nov 1
• 5 citations
  Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.
  Waheed O Awotoye, Carissa L Comnick, C. Pendleton, Erliang Zeng, Azeez Alade, Peter A. Mossey, Lord J.J. Gowans, Mekonen Eshete, Wasiu Lanre Adeyemo, Thirona Naicker, ...> ;Journal of Dental Research. 2021 Oct 23
• 3 citations
  De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
  Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouf...> ;Journal of Medical Genetics. 2021 Oct 1
• 1 citations
  Using Online Mendelian Inheritance in Man in low- and middle-income countries
  Nara Sobreira, Gabriela M. Repetto, Samia A. Temtamy, Ana Beatriz Alvarez Perez> ;American Journal of Medical Genetics. Part A. 2021 Sep 7
• 1 citations
  Response to Biesecker et al.
  Ada Hamosh, Joanna S. Amberger, Carol A. Bocchini, Joann Bodurtha, Carol J. Bult, Christopher G. Chute, Garry R. Cutting, Harry C. Dietz, Helen V. Firth, Richard A. Gi...> ;American Journal of Human Genetics. 2021 Sep 2
• 16 citations
  PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
  Elizabeth Wohler, Renan Paulo Martin, Sean Griffith, Eliete S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. ...> ;Orphanet Journal of Rare Diseases. 2021 Aug 18
• 15 citations
  IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
  Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, P. Gaio, Renan Paulo Martin, Claudia Mescoli, Sangeeta Bade, J...> ;Human Genetics. 2021 Jun 29
• 4 citations
  Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.
  Evan M. Braunstein, Hang Chen, Felicia Juarez, Fanghan Yang, Lindsay Tao, Igor Makhlin, Donna M. Williams, Shruti Chaturvedi, Aparna Pallavajjala, Theodoros Karantanos...> ;Cancers. 2021 Jun 29
• 2 citations
  Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
  Fabiana Louise Motta, Rafael Filippelli-Silva, Joao Paulo Kitajima, Denise A.S. Batista, Elizabeth Wohler, Nara Sobreira, Renan Paulo Martin, Juliana Maria Ferraz Sallum> ;Ophthalmic Genetics. 2021 Jun 22
• 8 citations
  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
  Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella M Pierpont, Mat...> ;Genetics in Medicine. 2021 May 26
• 11 citations
  Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.
  Vishal Shinde, Nara Sobreira, Elizabeth Wohler, George Maiti, Nan Hu, Giuliana Silvestri, Sonia George, Jonathan Jackson, Aravinda Chakravarti, Colin E. Willoughby, Sh...> ;Human Molecular Genetics. 2021 May 17
• 4 citations
  Next-generation sequencing and the evolution of data sharing
  Nara Sobreira, Ada Hamosh> ;American Journal of Medical Genetics. Part A. 2021 May 7
• 5 citations
  Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
  Eduardo Perrone, Ana Beatriz Alvarez Perez, Vânia D'Almeida, Claudia Berlim de Mello, Marcela Amaral Avelino Jacobina, Rafael Maffei Loureiro, Stênio Burlin, Michele M...> ;American Journal of Medical Genetics. Part A. 2021 Apr 1
• 2 citations
  Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
  Muhammad A. Latif, Nara Lygia D. Sobreira, Kelsey S. Guthrie, Mina Motaghi, Gina M. Robinson, Anna J. Gong, Clifford R. Weiss> ;American Journal of Medical Genetics. Part A. 2021 Mar 26
• 1 citations
  Trigeminal ganglia hypoplasia as imaging clue for the diagnosis of Gómez-López-Hernández syndrome
  Eduardo Perrone, Stênio Burlin, Vânia D'Almeida, Ana Beatriz Alvarez Perez, Nara Sobreira, Victor Rebelo Procaci, Marcela Amaral Avelino Jacobina, Orlando Graziani Pov...> ;Neurology. 2021 Mar 16
• 3 citations
  Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
  Lord J.J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri-Yeboah, Alexander Acheampong Oti, Daniel Kwesi Sabbah, Fareed K. N. Arthur, Waheed O Awotoye, ...> ;Molecular Genetics & Genomic Medicine. 2021 Mar 14
• 4 citations
  Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function
  April N. Meyer, Peggy Modaff, Clark G. Wang, Elizabeth Wohler, Nara Sobreira, Daniel J. Donoghue, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 13 citations
  Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
  Ella M M A Martin, Annabelle Enriquez, Duncan B. Sparrow, David T. Humphreys, Aideen M. McInerney-Leo, Paul Leo, Emma L. Duncan, Kavitha R Iyer, Joelene A Greasby, Edd...> ;Human Molecular Genetics. 2021 Jan 21
• 14 citations
  Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
  David A. Dyment, Anne H. O’Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan ...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 5 citations
  Role of telomere shortening in anticipation of inflammatory bowel disease.
  Brindusa Truta, Elizabeth Wohler, Nara Sobreira, Lisa W. Datta, Steven R. Brant> ;World Journal of Gastrointestinal Pharmacology and Therapeutics. 2020 Sep 8
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