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

Journal article

Lin Y-C. et al, (2021), The American Journal of Human Genetics, 108, 115 - 133

An ancestral 10bp repeat expansion in gene encoding component of ECM causes a novel autosomal-recessive peripheral neuropathy

Conference paper

Pagnamenta AT. et al, (2020), EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 98 - 99

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Journal article

Wei W. et al, (2020), Nature Communications, 11

The impact of the 100,000 Genomes Project on rare disease in national healthcare

Conference paper

Smedley D. et al, (2020), EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 54 - 55

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression.

Journal article

Kooblall KG. et al, (2020), Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Journal article

Stevenson M. et al, (2020), American journal of medical genetics. Part A

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.

Journal article

Vavoulis DV. et al, (2020), Bioinformatics (Oxford, England)

Whole-genome sequencing of patients with rare diseases in a national health system

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

Michelanglo: sculpting protein views on web pages without coding.

Journal article

Ferla MP. et al, (2020), Bioinformatics (Oxford, England)

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

Journal article

Bolton C. et al, (2020), Journal of Crohn's and Colitis, 14, 142 - 147

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