Suchergebnisse - "McEntagart, M."

PubPharm (60)

1

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Seaby, E. | Leggatt, G. | Cheng, G. | +68

UpdateOf: medRxiv. 2023 Mar 30;:. - PMID 37034701

2

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

enthalten in: Journal of medical genetics | 2023

von Moore, A. | Yu, J. | Pei, Y. | +75

3

A novel likely pathogenic CLCN5 variant in Dent's disease

enthalten in: BMC nephrology | 2023

von Hayward, S. | Norton, J. | Bownass, L. | +67

4

EyeG2P : an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

enthalten in: Journal of medical genetics | 2023

von Lenassi, E. | Carvalho, A. | Thormann, A. | +77

5

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

enthalten in: American journal of human genetics | 2023

von Niggl, E. | Bouman, A. | Briere, L. | +137

6

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

enthalten in: Journal of medical genetics | 2023

von Tooze, R. | Calpena, E. | Twigg, S. | +63

7

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

enthalten in: Nature communications | 2023

von Gracia-Diaz, C. | Zhou, Y. | Yang, Q. | +118

8

Mutation-Attention (MuAt) : deep representation learning of somatic mutations for tumour typing and subtyping

enthalten in: Genome medicine | 2023

von Sanjaya, P. | Maljanen, K. | Katainen, R. | +66

9

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

enthalten in: Scientific reports | 2023

von Leggatt, G. | Cheng, G. | Narain, S. | +66

10

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

enthalten in: Journal of medical genetics | 2023

von Pagnamenta, A. | Yu, J. | Evans, J. | +104

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