arrow
L

Lance H. Rodan

harvard university medical affiliates
H指数:33
被引数:4,492

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异通过损害突触功能导致神经发育综合征

2025-10-220
OAAI
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
2023-07-1110
OAAI
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023-02-017
OAAI
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
2023-01-014
OAAI
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
2022-11-0114
OAAI
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
2022-05-237
OA
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022-04-0120
OAAI
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
2022-01-2438
OA
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1中的双等位基因变体导致智力障碍,痉挛性肌张力障碍性脑瘫,癫痫和听力损失

2021-10-0115
OAAI
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
2021-07-2814
OA
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
2021-07-137
OAAI
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX家族转录因子的破坏会导致自闭症,注意力缺陷/多动障碍,智力障碍和行为失调

2021-06-0133
OAAI
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
2021-02-178
OAAI
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)
2021-01-111
OAAI