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Publications

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Paul MS. et al, (2024), American journal of human genetics, 111

Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Maroofian R. et al, (2024), Brain

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Chelban V. et al, (2024), Nat Commun, 15

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Husain RA. et al, (2023), Brain : a journal of neurology

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome medicine, 15

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Oppermann H. et al, (2023), Eur J Hum Genet

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.

Efthymiou S. et al, (2023), Annals of clinical and translational neurology

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Moore AR. et al, (2023), Journal of medical genetics

Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

Hashim M. et al, (2023), Clinical genetics

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Pagnamenta AT. et al, (2023), Human Mutation, 2023, 1 - 9

The prevalence and phenotypic range associated with biallelic PKDCC variants

Pagnamenta AT. et al, (2023), Clinical Genetics

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

Deng R. et al, (2023), Acta Neuropathologica

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Accogli A. et al, (2023), Brain Commun, 5

Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1

Pagnamenta AT. et al, (2022), Journal of Medical Genetics

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Loong L. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Saida K. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics

The Bartter-Gitelman Spectrum: Fifty Year Follow-up with Revision of Diagnosis after Whole Genome Sequencing

Stevenson M. et al, (2022), Journal of the Endocrine Society

Beyond founder and truncting variants in TECPR2-associated disorder

Neuser S. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 254 - 255

SCUBE3 loss-of-function causes a recognizable developmental disorder due to defective bone morphogenetic protein (BMP) signaling

Niceta M. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 362 - 363

The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6

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