Nara Sobreira

Also affiliated with Johns Hopkins Medicine

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 16 papers. Top paper: “Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1”.

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

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62754

N/A

0.798DataRank · unranked

21 citations

Jacquelyn Britton, Jacqueline Harris, Jennifer Kerkhof, Benjamin Barnes, Jennifer A. Lee +4 more

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

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0.524DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63501

N/A

0.208DataRank · unranked

3 citations

Elizabeth Wohler, Renan Paulo Martin, Heather N. Di Carlo, William B. Isaacs, Joan Ko +6 more

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Human Genetics(2021)10.1007/s00439-021-02300-4

N/A

0DataRank · unranked

44 citations

Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing +25 more

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus

Human Molecular Genetics(2021)10.1093/hmg/ddab075

N/A

0DataRank · unranked

30 citations

Nara Sobreira, Elizabeth Wohler, George Maiti, Nan Hu, Giuliana Silvestri +6 more

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus

Journal of Dental Research(2021)10.1177/00220345211046614

N/A

0DataRank · unranked

22 citations

Carissa Comnick, C. Pendleton, Erliang Zeng, Azeez Alade, Peter Mossey +22 more

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Genetics in Medicine(2021)10.1038/s41436-021-01182-1

N/A

0DataRank · unranked

19 citations

Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble +22 more

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1655

N/A

0DataRank · unranked

9 citations

Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander Acheampong Oti +13 more

Mapping Genetic Susceptibility to Stenosis in the Proximal Airway

The Laryngoscope(2023)10.1002/lary.30718

N/A

0DataRank · unranked

12 citations

William S. Tierney, Ruth J. Davis, Elizabeth Wohler, Nara Sobreira, Alexander T. Hillel +5 more

Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis

The Laryngoscope(2023)10.1002/lary.30580

N/A

0DataRank · unranked

10 citations

Alexander T. Hillel, Elizabeth Wohler, Nara Sobreira, Elizabeth J. Phillips, S. Mallal +2 more

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

Revista Paulista de Pediatria(2023)10.1590/1984-0462/2023/41/2022057

N/A

0DataRank · unranked

2 citations

Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez +5 more

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-24-2171

N/A

0DataRank · unranked

9 citations

Sun Young Kim, Sarah G. Mitchell, Marjolijn C.J. Jongmans, Jonathan D. Wasserman, Melissa R. Perrino +14 more

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Journal of Clinical Immunology(2020)10.1007/s10875-020-00817-3

N/A

0DataRank · unranked

40 citations

Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch +15 more

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

Frontiers in Genetics(2024)10.3389/fgene.2024.1266210

N/A

0DataRank · unranked

3 citations

Nikolai A. Sopko, Nara Sobreira, Simeon A. Boyadjiev, Elizabeth Wohler, Christian Morrill +6 more

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

UNC Libraries(2020)10.17615/0tee-nv95

N/A

0DataRank · unranked

1 citations

Christa Lese Martin, Evans, James P., Meredith Weaver, Katrina A.B. Goddard, Margaret Piper +19 more

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

medRxiv(2020)10.1101/2020.10.16.20214163

N/A

0DataRank · unranked

2 citations

Badri N. Vardarajan, Avinash Avabhyankar, Sonja Kytömaa, Bruce Levin, Nara Sobreira +5 more