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Daniel G. Calame
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TLR7 gain-of-function genetic variation causes human lupus
GJ Brown, PF Cañete, H Wang, A Medhavy, J Bones, JA Roco, Y He, ...
Nature 605 (7909), 349-356, 2022
2402022
Transplantation of human embryonic stem cell–derived alveolar epithelial type II cells abrogates acute lung injury in mice
D Wang, JE Morales, DG Calame, JL Alcorn, RA Wetsel
Molecular therapy 18 (3), 625-634, 2010
1652010
Autocrine release of interleukin-9 promotes Jak3-dependent survival of ALK+ anaplastic large-cell lymphoma cells
L Qiu, R Lai, Q Lin, E Lau, DM Thomazy, D Calame, RJ Ford, LW Kwak, ...
Blood 108 (7), 2407-2415, 2006
792006
Therapeutic potential of lung epithelial progenitor cells derived from embryonic and induced pluripotent stem cells
RA Wetsel, D Wang, DG Calame
Annual review of medicine 62, 95-105, 2011
502011
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
452022
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ...
The American Journal of Human Genetics 108 (10), 1981-2005, 2021
412021
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
392020
Innate and adaptive immunologic functions of complement in the host response to Listeria monocytogenes infection
DG Calame, SL Mueller-Ortiz, RA Wetsel
Immunobiology 221 (12), 1407-1417, 2016
352016
The C5a anaphylatoxin receptor (C5aR1) protects against Listeria monocytogenes infection by inhibiting type 1 IFN expression
DG Calame, SL Mueller-Ortiz, JE Morales, RA Wetsel
The Journal of Immunology 193 (10), 5099-5107, 2014
262014
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
I Herman, MA Lopez, D Marafi, D Pehlivan, DG Calame, F Abid, TE Lotze
Muscle & Nerve 63 (3), 304-310, 2021
232021
Bi-allelic LoF NRROS variants impairing active TGF-β1 delivery cause a severe infantile-onset neurodegenerative condition with intracranial calcification
X Dong, NB Tan, KB Howell, S Barresi, JL Freeman, D Vecchio, ...
The American Journal of Human Genetics 106 (4), 559-569, 2020
202020
The complement anaphylatoxins C5a and C3a suppress IFN-β production in response to Listeria monocytogenes by inhibition of the cyclic dinucleotide–Activated cytosolic …
SL Mueller-Ortiz, DG Calame, N Shenoi, YD Li, RA Wetsel
The Journal of Immunology 198 (8), 3237-3244, 2017
192017
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ...
Annals of neurology 89 (4), 828-833, 2021
172021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
I Herman, A Jolly, H Du, M Dawood, GMH Abdel‐Salam, D Marafi, ...
American Journal of Medical Genetics Part A 188 (3), 735-750, 2022
122022
A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus
DG Calame, I Herman, JJ Riviello
Epilepsy & Behavior Reports 15, 100425, 2021
102021
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus …
DG Calame, M Hainlen, D Takacs, L Ferrante, K Pence, LT Emrick, ...
Neurology: Genetics 7 (1), e539, 2020
102020
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
MS Paul, AR Duncan, CA Genetti, H Pan, A Jackson, PE Grant, J Shi, ...
The American Journal of Human Genetics 110 (1), 120-145, 2023
92023
NAXE deficiency: A neurometabolic disorder of NAD (P) HX repair amenable for metabolic correction
J Manor, D Calame, C Gijavanekar, K Fisher, J Hunter, E Mizerik, ...
Molecular genetics and metabolism 136 (2), 101-110, 2022
92022
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
DG Calame, S Bakhtiari, R Logan, Z Coban-Akdemir, H Du, T Mitani, ...
Genetics in Medicine 23 (12), 2455-2460, 2021
92021
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
X Qian, EM DeGennaro, M Talukdar, SK Akula, A Lai, DD Shao, ...
Developmental cell 57 (20), 2381-2396. e13, 2022
82022
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