Charles LeDuc
机构: Assistant Professor, Columbia University
每年引用次数
引用次数
引用: 5,727
H-指数: 38
I10-指数 : 72
出版物: 133
Behavior of impregnated activated carbons heated to the point of oxidation
Y Suzin , L.C Buettner , C.A LeDuc
Carbon 36 ( 11) 1557 -1566
17
1998
Characterizing the ignition process of activated carbon
Y Suzin , L.C Buettner , C.A LeDuc
Carbon 37 ( 2) 335 -346
20
1999
Human stem cell model of HNF1A deficiency shows uncoupled insulin to C-peptide secretion with accumulation of abnormal insulin granules
Rudolph L Leibel , Jesper Gromada , Jose Oberholzer , Charles A LeDuc
bioRxiv
8
2021
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.
Rudolph L Leibel , Patricia Lanzano , Charles A LeDuc , Xiao Fan
Journal of Pediatric Endocrinology and Metabolism 34 ( 5) 633 -638
2021
Utility of Oligonucleotide Array Comparative Genomic Hybridization to Identify Cryptic Copy Number Alterations in Myelodysplastic Syndromes
Wendy K Chung , James Weisberger , Yi Sun , Pauline Brenholz
Blood 112 ( 11) 5076 -5076
1
2008
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.
Lisa Cole Burnett , Gabriela Hubner , Charles A LeDuc , Michael V Morabito
Human Molecular Genetics 26 ( 23) 4606 -4616
19
2017
De novo copy number variants are associated with congenital diaphragmatic hernia
Saurav Guha , George B Mychaliska , Timothy M Crombleholme , Kenneth S Azarow
Journal of Medical Genetics 49 ( 10) 650 -659
48
2012
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
Tuomas O Kilpeläinen , Jayne F Martin Carli , Alicja A Skowronski , Qi Sun
Nature Communications 7 ( 1) 10494 -10494
93
2016
Coding Variant In LEP Associated with Lower Leptin Concentrations Implicates Leptin in the Regulation of Early Adiposity
Hanieh Yaghootkar , Yiying Zhang , Cassandra N Spracklen , Tugce Karaderi
Social Science Research Network
2019
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma , Mythily Ganapathi , Yiming Zheng , Kai-Li Tan
Genetics in Medicine 26 ( 7) 101125 -101125
2024
Front & Back Matter
Lea Tuzovic , Ashley Mills , Wendy K Chung , Kwame Anyane-Yeboa
Fetal Diagnosis and Therapy 38 ( 4)
2015
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency
Bryan J González , Haoquan Zhao , Jacqueline Niu , Damian J Williams
Communications Biology 5 ( 1) 779 -779
15
2022
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
Lisa C Burnett , Charles A LeDuc , Carlos R Sulsona , Daniel Paull
The Journal of clinical investigation 127 ( 1) 293 -305
151
2017
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
Cecilia Sena , Grazia Iannello , Alicja A Skowronski , Katelyn Dannheim
Journal of Medical Genetics
2
2022
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss
Yoel Hirsch , Wendy K Chung , Sergey Novoselov , Louis H Weimer
International Journal of Molecular Sciences 24 ( 10) 8897 -8897
2023
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency
Charles A LeDuc , Elizabeth E Crouch , Ashley Wilson , Jay Lefkowitch
JIMD Reports-Volume 12 121 -127
36
2014
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay
Volkan Okur , Charles A LeDuc , Edwin Guzman , Zaheer M Valivullah
Molecular Case Studies 5 ( 3) a004101 -a004101
7
2019
Gene expression atlas of energy balance brain regions
Maria Caterina De Rosa , Hannah J Glover , George Stratigopoulos , Charles A LeDuc
Jci Insight 6 ( 16)
6
2021
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
Hagit Daum , Mythily Ganapathi , Yoel Hirsch , Emily L Griffin
American Journal of Medical Genetics Part A 188 ( 1) 336 -342
4
2022
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity
Na Zhu , Charles A LeDuc , Ilene Fennoy , Blandine Laferrère
NPJ Genomic Medicine 8 ( 1) 33 -33
1
2023