C. Pereira

发表

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

K. Kandaswamy, W. Reardon, P. Bauer, 2020, European journal of human genetics : EJHG.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

P. Bauer, A. Rötig, H. Kayserili, 2020, Nature Communications.

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

W. Reardon, P. Bauer, A. Bertoli-Avella, 2020, Clinical genetics.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

K. Kandaswamy, P. Bauer, A. Rolfs, 2022, Orphanet Journal of Rare Diseases.

Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders

C. Pereira, M. A. Abd Elmaksoud, A. Abeesh, 2020, Egyptian Journal of Medical Human Genetics.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

A. Bertoli-Avella, L. Selim, H. Tomoum, 2022, European Journal of Human Genetics.

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

C. Lourenço, R. Giugliani, D. Grinberg, 2022, Journal of Medical Case Reports.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

P. Bauer, N. Ameziane, A. Bertoli-Avella, 2020, npj Genomic Medicine.

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

C. Pereira, K. Dayasiri, V. Thadchanamoorthy, 2021, BMC Medical Genomics.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

R. Pires, E. B. Calado, S. G. Lima, 2019, Arquivos brasileiros de cardiologia.

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

S. Achenbach, A. Skrahin, A. Rolfs, 2021, Annals of medicine.

Sanfilippo Syndrome: The Tale of a Challenging Diagnosis

C. Lourenço, R. Giugliani, C. O’Neill, 2020, Journal of Inborn Errors of Metabolism and Screening.

Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report.

B. Hacıhamdioğlu, C. Pereira, E. Tepeli, 2018, Journal of Clinical Research in Pediatric Endocrinology.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

K. Kandaswamy, L. Pardo, A. Bertoli-Avella, 2023, European journal of human genetics : EJHG.

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

C. Pereira, K. Dayasiri, V. Thadchanamoorthy, 2021, BMC medical genomics.