Jamal F - Search Results

1

Prognostic significance of T1 mapping parameters in heart failure with preserved ejection fraction: a systematic review.

Moustafa A, Khan MS, Alsamman MA, Jamal F, Atalay MK. Moustafa A, et al. Among authors: jamal f. Heart Fail Rev. 2020 May 13. doi: 10.1007/s10741-020-09958-4. Online ahead of print. Heart Fail Rev. 2020. PMID: 32405810 Review.

2

ERCP-Related Duodenal Perforation Presenting as Pneumoscrotum.

Khan MS, Jamal F, Khan Z, Tiwari A, Simo H, Sharma H. Khan MS, et al. Among authors: jamal f. Case Rep Gastroenterol. 2018 Jan 5;12(1):1-6. doi: 10.1159/000485557. eCollection 2018 Jan-Apr. Case Rep Gastroenterol. 2018. PMID: 29515338 Free PMC article.

3

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study, Bi W. Panneerselvam S, et al. Clin Genet. 2021 May 8. doi: 10.1111/cge.13979. Online ahead of print. Clin Genet. 2021. PMID: 33963760

4

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

Baldridge D, Wangler MF, Bowman AN, Yamamoto S; Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Baldridge D, et al. Orphanet J Rare Dis. 2021 May 7;16(1):206. doi: 10.1186/s13023-021-01839-9. Orphanet J Rare Dis. 2021. PMID: 33962631 Free article.

5

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J; Undiagnosed Diseases Network, Tifft CJ, Gordon-Lipkin E. Sturrock BRH, et al. Mol Genet Genomic Med. 2021 May 7:e1692. doi: 10.1002/mgg3.1692. Online ahead of print. Mol Genet Genomic Med. 2021. PMID: 33960148 Free article.

6

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A; Undiagnosed Diseases Network, Vilain E, Shashi V. Cope H, et al. Mol Genet Genomic Med. 2021 May 6:e1665. doi: 10.1002/mgg3.1665. Online ahead of print. Mol Genet Genomic Med. 2021. PMID: 33955715 Free article.

7

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

Kyle JE, Stratton KG, Zink EM, Kim YM, Bloodsworth KJ, Monroe ME; Undiagnosed Diseases Network, Waters KM, Webb-Robertson BM, Koeller DM, Metz TO. Kyle JE, et al. Sci Data. 2021 Apr 21;8(1):114. doi: 10.1038/s41597-021-00894-y. Sci Data. 2021. PMID: 33883556 Free PMC article.

8

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Genet Med. 2021 Apr 8. doi: 10.1038/s41436-021-01152-7. Online ahead of print. Genet Med. 2021. PMID: 33833410

9

Insights Into the Role of CircRNAs: Biogenesis, Characterization, Functional, and Clinical Impact in Human Malignancies.

Nisar S, Bhat AA, Singh M, Karedath T, Rizwan A, Hashem S, Bagga P, Reddy R, Jamal F, Uddin S, Chand G, Bedognetti D, El-Rifai W, Frenneaux MP, Macha MA, Ahmed I, Haris M. Nisar S, et al. Among authors: jamal f. Front Cell Dev Biol. 2021 Feb 5;9:617281. doi: 10.3389/fcell.2021.617281. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33614648 Free PMC article. Review.

10

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network, Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Feb 12. doi: 10.1038/s41436-020-01084-8. Online ahead of print. Genet Med. 2021. PMID: 33580225

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