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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
1964 3
1967 1
1968 1
1971 1
1972 1
1973 1
1974 2
1979 1
1981 2
1985 1
1986 4
1987 1
1988 2
1989 1
1990 2
1991 3
1992 4
1993 7
1994 2
1995 2
1996 2
1997 3
1998 2
1999 1
2000 1
2001 6
2002 2
2003 4
2004 4
2005 7
2006 4
2007 8
2008 7
2009 11
2010 14
2011 11
2012 7
2013 10
2014 7
2015 4
2016 8
2017 9
2018 3
2019 8
2020 16
2021 21
2022 21
2023 13
2024 17
2025 5

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254 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: coviello da. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
Amnioreduction.
Coviello D, Bonati F, Montefusco SM, Mastromatteo C, Fabietti I, Rustico M. Coviello D, et al. Acta Biomed. 2004;75 Suppl 1:31-3. Acta Biomed. 2004. PMID: 15301287
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M, Parodi MI, Formisano F, Spirito P, Autore C, Musumeci MB, Favale S, Forleo C, Rapezzi C, Biagini E, Davì S, Canepa E, Pennese L, Castagnetta M, Degiorgio D, Coviello DA. Cecconi M, et al. Among authors: coviello da. Int J Mol Med. 2016 Oct;38(4):1111-24. doi: 10.3892/ijmm.2016.2732. Epub 2016 Sep 7. Int J Mol Med. 2016. PMID: 27600940 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Fetal pleural effusion.
Rustico MA, Lanna M, Coviello D, Smoleniec J, Nicolini U. Rustico MA, et al. Among authors: coviello d. Prenat Diagn. 2007 Sep;27(9):793-9. doi: 10.1002/pd.1768. Prenat Diagn. 2007. PMID: 17602440 Review.
Genetic mechanisms of critical illness in COVID-19.
Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N, Fourman MH, Russell CD, Furniss J, Richmond A, Gountouna E, Wrobel N, Harrison D, Wang B, Wu Y, Meynert A, Griffiths F, Oosthuyzen W, Kousathanas A, Moutsianas L, Yang Z, Zhai R, Zheng C, Grimes G, Beale R, Millar J, Shih B, Keating S, Zechner M, Haley C, Porteous DJ, Hayward C, Yang J, Knight J, Summers C, Shankar-Hari M, Klenerman P, Turtle L, Ho A, Moore SC, Hinds C, Horby P, Nichol A, Maslove D, Ling L, McAuley D, Montgomery H, Walsh T, Pereira AC, Renieri A; GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human Genetics Initiative; 23andMe Investigators; BRACOVID Investigators; Gen-COVID Investigators; Shen X, Ponting CP, Fawkes A, Tenesa A, Caulfield M, Scott R, Rowan K, Murphy L, Openshaw PJM, Semple MG, Law A, Vitart V, Wilson JF, Baillie JK. Pairo-Castineira E, et al. Nature. 2021 Mar;591(7848):92-98. doi: 10.1038/s41586-020-03065-y. Epub 2020 Dec 11. Nature. 2021. PMID: 33307546 Free article.
Psychiatric genetic counseling: A mapping exercise.
Moldovan R, McGhee KA, Coviello D, Hamang A, Inglis A, Ingvoldstad Malmgren C, Johansson-Soller M, Laurino M, Meiser B, Murphy L, Paneque M, Papsuev O, Pawlak J, Rovira Moreno E, Serra-Juhe C, Shkedi-Rafid S, Laing N, Voelckel MA, Watson M, Austin JC. Moldovan R, et al. Among authors: coviello d. Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):523-532. doi: 10.1002/ajmg.b.32735. Epub 2019 Jun 20. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 31222934 Review.
254 results