Cauley ES - Search Results

1

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Cauley ES, Hamed A, Mohamed IN, Elseed M, Martinez S, Yahia A, Abozar F, Abubakr R, Koko M, Elsayed L, Piao X, Salih MA, Manzini MC. Cauley ES, et al. Neurogenetics. 2019 May;20(2):91-98. doi: 10.1007/s10048-019-00577-2. Epub 2019 Apr 13. Neurogenetics. 2019. PMID: 30982090

2

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Osborn DPS, et al. Among authors: cauley es. Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190459 Free PMC article.

3

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. Nabais Sá MJ, et al. Among authors: cauley es. Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29. Genet Med. 2019. PMID: 30923367 Free article.

4

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.

Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC. Saredi S, et al. Among authors: cauley es. Muscle Nerve. 2020 Aug;62(2):266-271. doi: 10.1002/mus.26907. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32363625 Free PMC article.

5

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Cauley ES, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1387. doi: 10.1002/mgg3.1387. Epub 2020 Sep 16. Mol Genet Genomic Med. 2020. PMID: 32936536 Free PMC article.

6

Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.

Shukla D, Gural BM, Cauley ES, Battula N, Mowla S, Karas BF, Roberts LE, Cavallo L, Turkalj L, Moody SA, Swan LE, Manzini MC. Shukla D, et al. Among authors: cauley es. Dev Genes Evol. 2023 Jun;233(1):25-34. doi: 10.1007/s00427-023-00703-z. Epub 2023 May 15. Dev Genes Evol. 2023. PMID: 37184573 Free PMC article.

7

RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data.

Movassagh M, Alomran N, Mudvari P, Dede M, Dede C, Kowsari K, Restrepo P, Cauley E, Bahl S, Li M, Waterhouse W, Tsaneva-Atanasova K, Edwards N, Horvath A. Movassagh M, et al. Nucleic Acids Res. 2016 Dec 15;44(22):e161. doi: 10.1093/nar/gkw757. Epub 2016 Aug 30. Nucleic Acids Res. 2016. PMID: 27576531 Free PMC article.

8

COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model.

Gogate N, Lyman D, Bell A, Cauley E, Crandall KA, Joseph A, Kahsay R, Natale DA, Schriml LM, Sen S, Mazumder R. Gogate N, et al. Brief Bioinform. 2021 Nov 5;22(6):bbab191. doi: 10.1093/bib/bbab191. Brief Bioinform. 2021. PMID: 34015823 Free PMC article.

9

Genomics of Black American colon cancer disparities: An RNA sequencing (RNA-Seq) study from an academic, tertiary referral center.

Haskins IN, Wang BD, Bernot JP, Cauley E, Horvath A, Marks JH, Lee NH, Agarwal S. Haskins IN, et al. Surgery. 2021 Oct;170(4):1160-1167. doi: 10.1016/j.surg.2021.03.031. Epub 2021 May 18. Surgery. 2021. PMID: 34016457 Free PMC article.

10

Modeling and integration of N-glycan biomarkers in a comprehensive biomarker data model.

Lyman DF, Bell A, Black A, Dingerdissen H, Cauley E, Gogate N, Liu D, Joseph A, Kahsay R, Crichton DJ, Mehta A, Mazumder R. Lyman DF, et al. Glycobiology. 2022 Sep 19;32(10):855-870. doi: 10.1093/glycob/cwac046. Glycobiology. 2022. PMID: 35925813 Free PMC article.

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