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Lyndon Gallacher

universite paris cite
H指数:14
被引数:1,082

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Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型量化与下一代表型分析相结合,对192名具有生殖系组蛋白病的个体进行研究

2025-07-010
OAAI
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

常见的顺式调控变异改变了致病性SHROOM3变异在颅面微小型中的外显率

2025-04-150
PRE
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)

更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷,2024,59)

2024-07-260
OAAI
Genome Sequencing for Diagnosing Rare Diseases
2024-06-0610
PRE
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
2024-05-017
OAAI
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024-04-273
OAAI
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
2023-01-017
OAAI
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
2022-11-297
OAAI
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
2022-08-018
OAAI
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

2022-01-0157
PRE
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
2021-11-0515
OA
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
2021-11-017
OAAI
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans
2021-09-077
OA
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
2021-06-0118
OAAI
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
2021-06-0117
OAAI
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍功能不全导致神经发育障碍重叠近端1p36缺失综合征,并伴有女性X染色体的表观特征

2021-03-0157
OAAI
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
2020-12-0128
OAAI