Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

99 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Petrovski S, et al. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V; Telethon Undiagnosed Diseases Program; D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N. Cappuccio G, et al. Hum Mutat. 2021 Jun;42(6):745-761. doi: 10.1002/humu.24210. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33942428 Free PMC article.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K. May HJ, et al. Genet Med. 2021 Oct;23(10):1912-1921. doi: 10.1038/s41436-021-01222-w. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113010 Free PMC article.
Genetic testing in individuals with cerebral palsy.
May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team; Roye DP Jr, Goldstein DB, Carmel JB. May HJ, et al. Dev Med Child Neurol. 2021 Dec;63(12):1448-1455. doi: 10.1111/dmcn.14948. Epub 2021 Jun 10. Dev Med Child Neurol. 2021. PMID: 34114234 Free PMC article.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K. Kushary ST, et al. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. Am J Med Genet A. 2021. PMID: 34331327 Free PMC article.
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.
Jain NG, Ahram DF, Marasa M, Rehman AU, May HJ, Zacharoulis S, Revah-Politi A, Florido ME, Whittemore GB, Aggarwal VS, Hargus G, Anyane-Yeboa K, D'Agati VD, Lin F, Jobanputra V, Sanna-Cherchi S. Jain NG, et al. Among authors: anyane yeboa k. Kidney Int Rep. 2022 Aug 7;7(10):2312-2316. doi: 10.1016/j.ekir.2022.07.174. eCollection 2022 Oct. Kidney Int Rep. 2022. PMID: 36217514 Free PMC article. No abstract available.
99 results