S. Pena

发表

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

L. P. Castro, A. Camargo, J. B. Vilar, 2017, The British journal of dermatology.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

I. Helbig, B. Kennedy, A. Gelot, 2022, bioRxiv.

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy

S. Pena, R. Coimbra, 2015, Clinical genetics.

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

J. Conroy, T. Magalhães, S. Ennis, 2016, Epilepsia.

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

S. Pena, N. Linhares, E. D. Fagundes, 2022, Frontiers in Genetics.

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Fetal diagnosis of monosomy X (Turner syndrome) with methylation‐specific PCR

S. Pena, R. Sturzeneker, 2003, Prenatal diagnosis.

P.474 Rare phenotypes related to novel autosomal recessive TTN truncating mutations: Escobar syndrome and congenital heart defect in two Brazilian patients

S. Pena, J. Gurgel-Giannetti, A. Giannetti, 2017, Neuromuscular Disorders.

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy

S. Pena, R. Coimbra, 2015, Clinical genetics.