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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Journal article

Palles C. et al, (2022), American journal of human genetics

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants in whole-genome sequencing

Conference paper

Giacopuzzi E. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 496 - 496

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

Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome

Journal article

Ormerod JOM. et al, (2021), Circulation: Genomic and Precision Medicine

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal article

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

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease

Journal article

Hikmat O. et al, (2021), ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

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

Journal article

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

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Journal article

Marafi D. et al, (2021), Brain : a journal of neurology

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

Journal article

Goergen SK. et al, (2021), AJNR. American journal of neuroradiology, 42, 1528 - 1534

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

Journal article

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

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