R01 MH074090/MH/NIMH NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2007	3
2008	2
2009	2
2010	3
2011	2
2012	4
2013	4
2014	6
2015	6
2016	6
2017	3
2018	2
2019	2
2020	3
2021	5
2022	4
2023	4
2024	1

1

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

Torene RI, Guillen Sacoto MJ, Millan F, Zhang Z, McGee S, Oetjens M, Heise E, Chong K, Sidlow R, O'Grady L, Sahai I, Martin CL, Ledbetter DH, Myers SM, Mitchell KJ, Retterer K. Torene RI, et al. Am J Hum Genet. 2024 Jan 4;111(1):70-81. doi: 10.1016/j.ajhg.2023.11.007. Epub 2023 Dec 12. Am J Hum Genet. 2024. PMID: 38091987

2

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.

Gonzalez-Mantilla PJ, Hu Y, Myers SM, Finucane BM, Ledbetter DH, Martin CL, Moreno-De-Luca A. Gonzalez-Mantilla PJ, et al. JAMA Pediatr. 2023 May 1;177(5):472-478. doi: 10.1001/jamapediatrics.2023.0008. JAMA Pediatr. 2023. PMID: 36877506 Free PMC article.

3

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.

Berry ASF, Finucane BM, Myers SM, Abril A, Kirchner HL, Ledbetter DH, Martin CL, Oetjens MT. Berry ASF, et al. JAMA. 2023 Jan 17;329(3):235-243. doi: 10.1001/jama.2022.23897. JAMA. 2023. PMID: 36648468 Free PMC article.

4

Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.

Shimelis H, Oetjens MT, Walsh LK, Wain KE, Znidarsic M, Myers SM, Finucane BM, Ledbetter DH, Martin CL. Shimelis H, et al. Am J Psychiatry. 2023 Jan 1;180(1):65-72. doi: 10.1176/appi.ajp.22010062. Epub 2022 Dec 7. Am J Psychiatry. 2023. PMID: 36475376 Free PMC article.

5

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.

Savatt JM, Shimelis H, Moreno-De-Luca A, Strande NT, Oetjens MT, Ledbetter DH, Martin CL, Myers SM, Finucane BM. Savatt JM, et al. Genet Med. 2022 Sep;24(9):1857-1866. doi: 10.1016/j.gim.2022.05.006. Epub 2022 May 31. Genet Med. 2022. PMID: 35639097 Free PMC article.

6

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.

7

Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.

Finucane B, Oetjens MT, Johns A, Myers SM, Fisher C, Habegger L, Maxwell EK, Reid JG, Ledbetter DH, Kirchner HL, Martin CL. Finucane B, et al. Genet Med. 2022 Mar;24(3):703-711. doi: 10.1016/j.gim.2021.11.010. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906480 Free PMC article.

8

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.

Wain KE, Tolwinski K, Palen E, Heidlebaugh AR, Holdren K, Walsh LK, Oetjens MT, Ledbetter DH, Martin CL. Wain KE, et al. J Pers Med. 2021 May 1;11(5):365. doi: 10.3390/jpm11050365. J Pers Med. 2021. PMID: 34062946 Free PMC article.

9

All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders.

Moreno-De-Luca D, Martin CL. Moreno-De-Luca D, et al. Curr Opin Genet Dev. 2021 Jun;68:71-78. doi: 10.1016/j.gde.2021.02.015. Epub 2021 Mar 25. Curr Opin Genet Dev. 2021. PMID: 33773394 Free PMC article. Review.

10

Genetic Testing in Neurodevelopmental Disorders.

Savatt JM, Myers SM. Savatt JM, et al. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.526779. eCollection 2021. Front Pediatr. 2021. PMID: 33681094 Free PMC article. Review.

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