עקוב אחר
Lynne Bird
Lynne Bird
Professor of Clinical Pediatrics, University of California, San Diego
כתובת אימייל מאומתת בדומיין rchsd.org
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
6892019
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
4771997
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
3022011
Angelman syndrome: review of clinical and molecular aspects
LM Bird
The application of clinical genetics, 93-104, 2014
2612014
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
2362015
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
2251996
Angelman syndrome
SS Margolis, GL Sell, MA Zbinden, LM Bird
Neurotherapeutics 12 (3), 641-650, 2015
1862015
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
1652013
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
1642010
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
1452011
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
1042017
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
792020
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מאמרים 1–12