Your account is not claimed yet. You can sign up with ORCID to claim your account.

Elizabeth S Wohler (Elizabeth Wohler)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 13

Top Venues

Genes

Cancers

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

PLoS genetics

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

Publications

Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Marah H Wahbeh, Xi Peng, Sofia Bacharaki, Alexandros Hatzimanolis, Stefanos Dimitrakopoulos, Elizabeth S Wohler, Xue Yang, Christian Yovo, Brady J Maher, Nara Sobreira, Nikos C Stefanis, Dimitrios Avramopoulos
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Genes 14 (1) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Marah H Wahbeh, Xi Peng, Sofia Bacharaki, Alexandros Hatzimanolis, Stefanos Dimitrakopoulos, Elizabeth S Wohler, Xue Yang, Christian Yovo, Brady J Maher, Nara Sobreira, Nikos C Stefanis, Dimitrios Avramopoulos
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Genes 14 (1) (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)
Marah H Wahbeh, Xi Peng, Sofia Bacharaki, Alexandros Hatzimanolis, Stefanos Dimitrakopoulos, Elizabeth S Wohler, Xue Yang, Christian Yovo, Brady J Maher, Nara Sobreira, Nikos C Stefanis, Dimitrios Avramopoulos
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Genes 14 (1) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Marah H Wahbeh, Xi Peng, Sofia Bacharaki, Alexandros Hatzimanolis, Stefanos Dimitrakopoulos, Elizabeth S Wohler, Xue Yang, Christian Yovo, Brady J Maher, Nara Sobreira, Nikos C Stefanis, Dimitrios Avramopoulos
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Genes 14 (1) (2023)
Sarah M Robbins, Renan Paulo Martin, Elizabeth S Wohler, Elizabeth S Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa Kratz, Mirlene Cernach, Reynaldo Jesus Garcia Filho, Chad Haldeman-Englert, Yoon Jae Choi, Carol D Morris, Bernard Cohen, Julie Hoover-Fong, David Valle, Gregg L Semenza, Nara L M Sobreira
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. PLoS genetics 18 (12) (2022)
Evan M Braunstein, Hang Chen, Felicia Juarez, Fanghan Yang, Lindsay Tao, Igor Makhlin, Donna M Williams, Shruti Chaturvedi, Aparna Pallavajjala, Theodoros Karantanos, Renan Martin, Elizabeth S Wohler, Nara Sobreira, Christopher D Gocke, Alison R Moliterno
Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms. Cancers 13 (13) (2021)
Fabiana Louise Motta, Renan P Martin, Fernanda Belga Ottoni Porto, Elizabeth S Wohler, Rosane G Resende, Caio P Gomes, João B Pesquero, Juliana Maria Ferraz Sallum
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. Genes 11 (1) (2019)

Elizabeth S Wohler.css-eqlu8i{font-size:small;padding-left:4px;} (Elizabeth Wohler)

Publication Activity (10 Years)

Top Topics

Top Venues

Elizabeth S Wohler (Elizabeth Wohler)