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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

110 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Tan S, et al. Among authors: leahy p. Mol Psychiatry. 2024 Oct 29. doi: 10.1038/s41380-024-02806-z. Online ahead of print. Mol Psychiatry. 2024. PMID: 39472663
MGA-related syndrome: A proposed novel disorder.
McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. McGivern B, et al. Among authors: leahy p. HGG Adv. 2025 Jan 9;6(1):100387. doi: 10.1016/j.xhgg.2024.100387. Epub 2024 Nov 26. HGG Adv. 2025. PMID: 39600096 Free PMC article.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: leahy p. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Schymick J, et al. Among authors: leahy p. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34668327 Review.
Monitoring of carbon-water fluxes at Eurasian meteorological stations using random forest and remote sensing.
Xie M, Ma X, Wang Y, Li C, Shi H, Yuan X, Hellwich O, Chen C, Zhang W, Zhang C, Ling Q, Gao R, Zhang Y, Ochege FU, Frankl A, De Maeyer P, Buchmann N, Feigenwinter I, Olesen JE, Juszczak R, Jacotot A, Korrensalo A, Pitacco A, Varlagin A, Shekhar A, Lohila A, Carrara A, Brut A, Kruijt B, Loubet B, Heinesch B, Chojnicki B, Helfter C, Vincke C, Shao C, Bernhofer C, Brümmer C, Wille C, Tuittila ES, Nemitz E, Meggio F, Dong G, Lanigan G, Niedrist G, Wohlfahrt G, Zhou G, Goded I, Gruenwald T, Olejnik J, Jansen J, Neirynck J, Tuovinen JP, Zhang J, Klumpp K, Pilegaard K, Šigut L, Klemedtsson L, Tezza L, Hörtnagl L, Urbaniak M, Roland M, Schmidt M, Sutton MA, Hehn M, Saunders M, Mauder M, Aurela M, Korkiakoski M, Du M, Vendrame N, Kowalska N, Leahy PG, Alekseychik P, Shi P, Weslien P, Chen S, Fares S, Friborg T, Tallec T, Kato T, Sachs T, Maximov T, di Cella UM, Moderow U, Li Y, He Y, Kosugi Y, Luo G. Xie M, et al. Among authors: leahy pg. Sci Data. 2023 Sep 7;10(1):587. doi: 10.1038/s41597-023-02473-9. Sci Data. 2023. PMID: 37679357 Free PMC article.
110 results