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Publications

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

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Roberts HE. et al, (2021), Scientific Reports, 11

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Pagnamenta AT. et al, (2021), Journal of Medical Genetics

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J. et al, (2021)

Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects

Pagnamenta AT. et al, (2021), Clinical Genetics

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Wiessner M. et al, (2021), Brain : a journal of neurology, 144

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Iqbal M. et al, (2021), Genetics in medicine : official journal of the American College of Medical Genetics

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Tan NB. et al, (2021), Journal of Medical Genetics

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Lin S-J. et al, (2021), Genetics in medicine : official journal of the American College of Medical Genetics

Biparental inheritance of mitochondrial DNA revisited

Pagnamenta AT. et al, (2021), Nature Reviews Genetics

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Hengel H. et al, (2021), American journal of human genetics

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Van Gucht I. et al, (2021), American journal of human genetics

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Wiessner M. et al, (2021), Brain : a journal of neurology

Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Neuser S. et al, (2021), Human mutation

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Baxley RM. et al, (2021), Nature communications, 12

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Ragoussis V. et al, (2021), Journal of Medical Genetics

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Rodríguez Cruz PM. et al, (2021), Neuromuscular Disorders, 31, 21 - 28

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