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2002 1
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2017 1
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2019 6
2020 6
2021 14
2022 12
2023 7
2024 5

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51 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: quinodoz m. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: quinodoz m. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); … See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: quinodoz m. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: quinodoz m. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Conti GM, Cancellieri F, Quinodoz M, Kaminska K, Vaclavik V, Rivolta C, Tran HV. Conti GM, et al. Among authors: quinodoz m. Case Rep Ophthalmol. 2024 Mar 18;15(1):230-237. doi: 10.1159/000537997. eCollection 2024 Jan-Dec. Case Rep Ophthalmol. 2024. PMID: 38500542 Free PMC article.
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G. Grosso A, et al. Among authors: quinodoz m. Asia Pac J Ophthalmol (Phila). 2023 Sep-Oct 01;12(5):500-501. doi: 10.1097/APO.0000000000000563. Epub 2022 Oct 28. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36650090 Free article. No abstract available.
Likelihood-Free Inference in High-Dimensional Models.
Kousathanas A, Leuenberger C, Helfer J, Quinodoz M, Foll M, Wegmann D. Kousathanas A, et al. Among authors: quinodoz m. Genetics. 2016 Jun;203(2):893-904. doi: 10.1534/genetics.116.187567. Epub 2016 Apr 6. Genetics. 2016. PMID: 27052569 Free PMC article.
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M, Javed S, Baig HMA, Quinodoz M, Ullah M, Han JH, Rahim MU, Kausar H, Calzetti G, Rivolta C. Ansar M, et al. Among authors: quinodoz m. Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10. Ophthalmic Genet. 2022. PMID: 35946463 No abstract available.
Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq.
Hahaut V, Pavlinic D, Carbone W, Schuierer S, Balmer P, Quinodoz M, Renner M, Roma G, Cowan CS, Picelli S. Hahaut V, et al. Among authors: quinodoz m. Nat Biotechnol. 2022 Oct;40(10):1447-1451. doi: 10.1038/s41587-022-01312-3. Epub 2022 May 30. Nat Biotechnol. 2022. PMID: 35637419 Free PMC article.
51 results