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 | 240 | 2022 |
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 | 165 | 2010 |
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 | 79 | 2006 |
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 | 50 | 2011 |
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 | 45 | 2022 |
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 | 41 | 2021 |
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 | 39 | 2020 |
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 | 35 | 2016 |
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 | 26 | 2014 |
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 | 23 | 2021 |
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 | 20 | 2020 |
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 | 19 | 2017 |
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 | 17 | 2021 |
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 | 12 | 2022 |
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 | 10 | 2021 |
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 | 10 | 2020 |
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 | 9 | 2023 |
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 | 9 | 2022 |
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 | 9 | 2021 |
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 | 8 | 2022 |