Publications by authors named "Salmo Raskin"

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Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.
Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Salmo Raskin

Clin Genet· January 2026

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Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Salmo Raskin

Clin Genet· December 2025

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Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.
Linda M Reis, James Bellingham, Fabiana Louise Motta, Neringa Jurkute, Salmo Raskin

Invest Ophthalmol Vis Sci· November 2025

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SPOAN Syndrome in Southern Brazil: Case Report and New Insights.
Luis Eduardo Borges de Macedo Zubko, Salmo Raskin, Camila Nemetz Kohler, Hélio Afonso Ghizoni Teive

Mov Disord Clin Pract· October 2025

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Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic Stages.
Renata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, Gustavo Leite Franklin, Gustavo da Cunha Ribas, Salmo Raskin

Cerebellum· October 2025

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Salmo Raskin

Am J Hum Genet· February 2025

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Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception.
Maíra Coelho, Marise Bueno Zonta, Salmo Raskin, Silvia Valderramas

Rev Paul Pediatr· January 2025

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Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
Roberto Giugliani, Ana Cecília Menezes de Siqueira, Emerson Santana Santos, Emília Katiane E A Leão, Gerson da Silva Carvalho, Salmo Raskin

Orphanet J Rare Dis· November 2024

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Global Presence and Penetrance of -Related Disorder.
Jaroslaw Dulski, Matthew Baker, Samantha A Banks, Michael Bayat, Rose Bruffaerts, Salmo Raskin

Neurol Genet· October 2024

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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Salmo Raskin

Lancet Oncol· May 2024

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Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Luiz Eduardo Novis, Shahryar Alavi, David Pellerin, Marcus Vinicius Della Coleta, Salmo Raskin

Parkinsonism Relat Disord· February 2024

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Salmo Raskin

Mov Disord· January 2024

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New Horizons on the Diagnosis of Hereditary Ataxia.
Luiz Eduardo Novis, Salmo Raskin, Helio A G Teive

Mov Disord Clin Pract· November 2023

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Phenocopy in a patient with triple negative breast cancer: a case report.
Gustavo Henrique Morcelli da Costa, Eduarda Scoto Dias, Naiara Bozza Pegoraro, Camila Nemetz Kohler, Salmo Raskin

Einstein (Sao Paulo)· November 2023

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Stephanie Efthymiou, Luiz E Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Salmo Raskin

Ann Clin Transl Neurol· October 2023

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Frequency of GAA- Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Salmo Raskin

Neurol Genet· October 2023

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Multiple copy number variation in a patient with Kleefstra syndrome.
Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin

Rev Paul Pediatr· September 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Salmo Raskin

Am J Med Genet A· August 2023

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A Teenager with Benign Hereditary Chorea and Selective Tooth Agenesis Type 3.
Patrícia Áurea Andreucci Martins Bonilha, Thábata Emanuelle Martins Nunes, Beatriz Cassarotti, Leo Coutinho, Emanuel Cassou, Salmo Raskin

Mov Disord Clin Pract· August 2023

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Salmo Raskin

Nat Genet· July 2023

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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Salmo Raskin

Am J Med Genet A· May 2023

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A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Salmo Raskin

Rev Paul Pediatr· April 2023

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Autism and duplication of 17q12q21.2 by array-CGH: a case report.
Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Salmo Raskin

Rev Paul Pediatr· January 2023

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Novel Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Salmo Raskin

Int J Mol Sci· June 2022

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Muscle Cramps Profile among Spinocerebellar Ataxias.
Gustavo Leite Franklin, Carlos Henrique Ferreira Camargo, Daniel Balaban, João Matheus Marcon, Salmo Raskin

Ann Indian Acad Neurol· January 2022

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