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Lynne Bird
Lynne Bird
Professor of Clinical Pediatrics, University of California, San Diego
在 rchsd.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich, Y Hanani, O Bar, G Nadav, N Fleischer, D Gelbman, ...
Nature medicine 25 (1), 60-64, 2019
6352019
X-linked situs abnormalities result from mutations in ZIC3
M Gebbia, GB Ferrero, G Pilia, MT Bassi, AS Aylsworth, M Penman-Splitt, ...
Nature genetics 17 (3), 305-308, 1997
4671997
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
AF Rope, K Wang, R Evjenth, J Xing, JJ Johnston, JJ Swensen, ...
The American Journal of Human Genetics 89 (1), 28-43, 2011
2952011
Angelman syndrome: review of clinical and molecular aspects
LM Bird
The application of clinical genetics, 93-104, 2014
2562014
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
KD Omilusik, JA Best, B Yu, S Goossens, A Weidemann, JV Nguyen, ...
Journal of Experimental Medicine 212 (12), 2027-2039, 2015
2202015
Sudden death in Williams syndrome: report of ten cases
LM Bird, GF Billman, RV Lacro, RL Spicer, LK Jariwala, HE Hoyme, ...
The Journal of pediatrics 129 (6), 926-931, 1996
2171996
Angelman syndrome
SS Margolis, GL Sell, MA Zbinden, LM Bird
Neurotherapeutics 12 (3), 641-650, 2015
1802015
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ...
Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010
1632010
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
K Tatton‐Brown, A Murray, S Hanks, J Douglas, R Armstrong, S Banka, ...
American journal of medical genetics Part A 161 (12), 2972-2980, 2013
1602013
Angelman syndrome: Mutations influence features in early childhood
WH Tan, CA Bacino, SA Skinner, I Anselm, R Barbieri‐Welge, ...
American journal of medical genetics Part A 155 (1), 81-90, 2011
1412011
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial
SE McCandless, JA Yanovski, J Miller, C Fu, LM Bird, P Salehi, CL Chan, ...
Diabetes, Obesity and Metabolism 19 (12), 1751-1761, 2017
982017
DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes
S Choufani, WT Gibson, AL Turinsky, BHY Chung, T Wang, K Garg, ...
The American Journal of Human Genetics 106 (5), 596-610, 2020
712020
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