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

Journal article

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

Beyond founder and truncting variants in TECPR2-associated disorder

Conference paper

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

Conference paper

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

Conference paper

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

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal article

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

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

Journal article

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

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

Journal article

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.

Journal article

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

Journal article

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.

Journal article

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

Biparental inheritance of mitochondrial DNA revisited

Journal article

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

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

Journal article

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

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

Journal article

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

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