Publications by authors named "Matheus A A Castro"

Claim this Profile
C
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro

J Hum Genet· January 2026

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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

Clin Genet· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Matheus Augusto Araujo Castro

Am J Hum Genet· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
Renata Silva de Mendonça, Ana Beatriz Arruda Santana, Andreia Braga Mota Azzoni, Ana Luiza Viegas de Almeida, Matheus Augusto Araujo Castro

Cerebellum· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
Rachel Marin, Giovanna Rulo, Danielle M Andrade, Luciana M Inuzuka, Matheus A A Castro

Seizure· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.
Sergio Roberto Pereira da Silva, Renata Montes Garcia Barbosa, Patricia Pontes Cruz, Lunielle da Cruz Caldeira, Daniel de Queiroz Omote, Matheus Augusto Araújo Castro

Cerebellum· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.
Eduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto, Matheus Augusto Araújo Castro, Edgard França Bisneto

Clin Genet· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandão Paiva, Antonio Duarte Amorim Junior, Pedro Lucas Grangeiro Sá Barreto Lima, Katiane Sayão Souza Cabral, Matheus Augusto Araújo Castro

Genet Med· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.
Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini de Oliveira, Matheus Augusto Araujo Castro

Clin Epigenetics· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
X
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.
Thiago Gonçalves Guimarães, Jacy Bezerra Parmera, Matheus Augusto Araújo Castro, Rubens Gisbert Cury, Egberto Reis Barbosa

Mov Disord Clin Pract· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro

J Hum Genet· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Matheus Augusto Araújo Castro

Genet Mol Biol· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araújo Castro

J Med Genet· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stroke in vascular Ehlers-Danlos syndrome.
Rebecca Ranzani Martins, Mauricio Leonardo da Silva Paiva, Weverton Carlos da Silva Teixeira, Rachel Sayuri Honjo Kawahira, Fernando Freua, Matheus Augusto Araujo Castro

Pract Neurol· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ deficiency: Hypomorphic variants and two distinct disease entities.
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Matheus Augusto Araújo Castro

Mol Genet Metab· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.
Paulo Ribeiro Nóbrega, Matheus Augusto Araújo Castro, Anderson Rodrigues Brandão de Paiva, Fernando Kok

Am J Med Genet A· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Matheus Augusto Araujo Castro

Genomics· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Matheus Augusto Araújo Castro, Maria Lucia Castro Moreira

Am J Med Genet A· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel CLTC variants cause new brain and kidney phenotypes.
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, Ken Saida, Sho Narahara, Matheus Augusto Araujo Castro

J Hum Genet· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Débora Romeo Bertola

Am J Med Genet A· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo pathogenic DHX30 variants in two cases.
Noriko Miyake, Chong Ae Kim, Kazuhiro Haginoya, Matheus Augusto Araujo Castro, Rachel Sayruri Honjo

Clin Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Rachel Sayuri Honjo, Matheus Augusto Araújo Castro, Suely Fazio Ferraciolli, Luiz Alberto Valente Soares Junior, Antonio Carlos Pastorino

Am J Med Genet A· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Débora R Bertola, Matheus A A Castro, Guilherme L Yamamoto, Rachel S Honjo, José Ricardo Ceroni

Am J Med Genet C Semin Med Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease.
Matheus Augusto Araújo Castro, Pedro Henrique Almeida Fraiman, Clecio de Oliveira Godeiro-Junior

Arq Neuropsiquiatr· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis