1U54HG006542/HG/NHGRI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2012	2
2013	1
2014	3
2015	9
2016	1
2019	1
2020	1
2021	1
2022	1
2024	0

1

The impact of GeneMatcher on international data sharing and collaboration.

Hamosh A, Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Doheny KF, Valle D, Sobreira N. Hamosh A, et al. Hum Mutat. 2022 Jun;43(6):668-673. doi: 10.1002/humu.24350. Epub 2022 Mar 28. Hum Mutat. 2022. PMID: 35170833 Free PMC article.

2

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL. Perrone E, et al. Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381921

3

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2015 Feb;167A(2):271-81. doi: 10.1002/ajmg.a.36863. Epub 2014 Nov 13. Am J Med Genet A. 2015. PMID: 25394726 Free PMC article.

4

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. Hamosh A, et al. Hum Mutat. 2013 Apr;34(4):566-71. doi: 10.1002/humu.22283. Epub 2013 Mar 4. Hum Mutat. 2013. PMID: 23378291 Free PMC article.

5

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Sobreira N, Schiettecatte F, Valle D, Hamosh A. Sobreira N, et al. Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13. Hum Mutat. 2015. PMID: 26220891 Free PMC article.

6

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Tanaka AJ, et al. Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299366 Free PMC article.

7

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.

Robbins SM, Thimm MA, Valle D, Jelin AC. Robbins SM, et al. J Assist Reprod Genet. 2019 Aug;36(8):1539-1548. doi: 10.1007/s10815-019-01499-6. Epub 2019 Jul 4. J Assist Reprod Genet. 2019. PMID: 31273585 Free PMC article.

8

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.

Chen S, Mattei P, You J, Sobreira NL, Hinds GA. Chen S, et al. JAMA Dermatol. 2015 Jun;151(6):668-70. doi: 10.1001/jamadermatol.2014.5306. JAMA Dermatol. 2015. PMID: 25693063 No abstract available.

9

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB. Migliavacca MP, et al. Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478002 Free PMC article.

10

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.

Buske OJ, Schiettecatte F, Hutton B, Dumitriu S, Misyura A, Huang L, Hartley T, Girdea M, Sobreira N, Mungall C, Brudno M. Buske OJ, et al. Hum Mutat. 2015 Oct;36(10):922-7. doi: 10.1002/humu.22850. Hum Mutat. 2015. PMID: 26255989 Free PMC article.

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