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

Year Number of Results
1984 1
1988 1
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1997 1
1999 1
2002 1
2004 1
2007 3
2008 6
2009 4
2010 5
2011 2
2012 2
2013 4
2014 1
2017 2
2019 2
2020 3
2021 2
2022 3
2023 4
2024 2
2025 0

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43 results

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Page 1
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: inglese cn. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS. Hayeems RZ, et al. Among authors: inglese c. Genet Med. 2022 Feb;24(2):430-438. doi: 10.1016/j.gim.2021.10.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906486 Free article.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A. Villani A, et al. Among authors: inglese c. Nat Cancer. 2023 Feb;4(2):203-221. doi: 10.1038/s43018-022-00474-y. Epub 2022 Dec 30. Nat Cancer. 2023. PMID: 36585449 Free PMC article.
Navigating Uncertainty in Medicine With Our Families.
Trocchia C, Singh P, Inglese C, Goding D, Matta E, Dudas R. Trocchia C, et al. Among authors: inglese c. Pediatrics. 2023 Apr 1;151(4):e2022059783. doi: 10.1542/peds.2022-059783. Pediatrics. 2023. PMID: 36866465 No abstract available.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Among authors: inglese c. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Eur J Hum Genet. 2020. PMID: 32005960 Free PMC article. Review.
43 results