Salmo Raskin (S Raskin)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Topics

Spinal Cord Injury

Top Venues

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

Einstein (Sao Paulo, Brazil)

Arquivos de neuro-psiquiatria

Nature genetics

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

Publications

Jarosław Dulski, Matthew Baker, Samantha A Banks, Michael Bayat, Rose Bruffaerts, Gabriela Ortiz Cruz, Caio Cesar Diniz Disserol, Kristen S Fisher, Jainy N Jose, Bernadette Kalman, Orhun H Kantarci, Dmytro Maltsev, Catherine Middleton, Gabriela Novotni, Dijana Plaseska-Karanfilska, Salmo Raskin, Josiane Souza, Hélio Augusto Guizoni Teive, Zbigniew K Wszolek
Global Presence and Penetrance of CSF1R -Related Disorder. Neurology. Genetics 10 (5) (2024)
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)
Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami
Autism and duplication of 17q12q21.2 by array-CGH: a case report. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 41 (2023)
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Sarah J Garnai, Brenda J Barry, Tammy Ray, Michael Kosicki, Caroline D Robson, Zhongyang Zhang, Thomas E Collins, Alon Gelber, Brandon M Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E Warburton, Carol Van Ryzin, Tanya J Lehky, Christopher Zalewski, Kelly A King, Carmen C Brewer, Audrey Thurm, Joseph Snow, Flavia M Facio, Narisu Narisu, Lori L Bonnycastle, Amy Swift, Peter S Chines, Jessica L Bell, Suresh Mohan, Mary C Whitman, Sandra E Staffieri, James E Elder, Joseph L Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary N Boustany, David A Mackey, Angela F Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H Orkin, Stephen C J Parker, Tessa A Hadlock, Lisenka E L M Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S Collins, Len A Pennacchio, Irini Manoli, Elizabeth C Engle
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics (2023)
Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin, Liya Regina Mikami
Multiple copy number variation in a patient with Kleefstra syndrome. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 42 (2023)
Gustavo Henrique Morcelli da Costa, Eduarda Scoto Dias, Naiara Bozza Pegoraro, Camila Nemetz Kohler, Salmo Raskin, Liya Regina Mikami
Phenocopy in a patient with triple negative breast cancer: a case report. Einstein (Sao Paulo, Brazil) 21 (2023)
Stephanie Efthymiou, Luiz Eduardo Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz Felipe Rocha Vasconcellos, Salmo Raskin, Varunvenkat M Srinivasan, Alistair T Pagnamenta, Yaramanchanahalli B Arun, Uddhava V Kinhal, Vykuntaraju K Gowda, Hélio Augusto Guizoni Teive, Henry Houlden
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. Annals of clinical and translational neurology (2023)
Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami
Autism and duplication of 17q12q21.2 by array-CGH: a case report. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 41 (2023)
Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami
Autism and duplication of 17q12q21.2 by array-CGH: a case report. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 41 (2023)
Eduardo R Pereira, Gustavo Leite Franklin, Salmo Raskin, Hélio Augusto Guizoni Teive
Comment on: Diagnosis of Aicardi-Goutières Syndrome in Adults. Movement disorders clinical practice 7 (5) (2020)
Luiz Eduardo Novis, Mariana Spitz, Marcia Maria Jardim Rodrigues, Salmo Raskin, Hélio Afonso Ghizoni Teive
Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arquivos de neuro-psiquiatria 78 (9) (2020)
Katia M Konno, Marise Bueno Zonta, Ana T B Guimarães, Carlos Henrique Ferreira de Camargo, Renato Puppi Munhoz, Salmo Raskin, Tetsuo Ashizawa, Hélio Augusto Guizoni Teive
Balance and physical functioning in Spinocerebellar ataxias 3 and 10. Acta neurologica Scandinavica 143 (4) (2020)
D A S de Souza, F R Faucz, L Pereira-Ferrari, V S Sotomaior, Salmo Raskin
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology 6 (1) (2017)