Elizabeth S Wohler (Elizabeth Wohler)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

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)
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)
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)