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Page 1
Global genetic interaction network of a human cell maps conserved principles and informs functional interpretation of gene co-essentiality profiles.
Billmann M, Costanzo M, Zhang X, Hassan AZ, Rahman M, Brown KR, Chan KS, Tong AHY, Pons C, Ward HN, Ross C, van Leeuwen J, Aregger M, Lawson KA, Mair B, Roth AF, Sen NE, Forster DT, Tan G, Mero P, Masud SN, Lee Y, Aguilera-Uribe M, Ušaj M, Almeida SMT, Aulakh K, Bhojoo U, Birkadze S, Budijono N, Cai X, Caumanns JJ, Chalmers JJ, Chandrashekhar M, Chang D, Climie R, Dasgupta K, Drazic A, Echenique JIR, Gacesa R, Farias AG, Habsid A, Horecka I, Kantautas K, Ji F, Kim DK, Lee SY, Liang W, Lim HJ, Lin K, Lu X, Maier M, Nami B, Nixon A, Mikolajewicz N, Mokhtaridoost M, Nedyalkova L, Rohde T, Rodrigues MS, Soste M, Schultz E, Wang W, Seetharaman A, Shuteriqi E, Sizova O, Taylor DT, Tereshchenko M, Tieu D, Turowec J, Ubhi T, Varland S, Wang KE, Wang ZY, Wei J, Xiao YX, Maass PG, Reversade B, Brown GW, Cravatt BF, Dixon SJ, Wyatt HDM, Röst HL, Roth FP, Xia T, Bader GD, Loewith R, Davis NG, Andrews B, Myers CL, Moffat J, Boone C. Billmann M, et al. Among authors: reversade b. Cell. 2026 Apr 27:S0092-8674(26)00345-4. doi: 10.1016/j.cell.2026.03.044. Online ahead of print. Cell. 2026. PMID: 42049019 Free article.
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Tibbe D, Vogt MR, Holling T, Schlieben LD, Kortüm F, Shoukier M, Bagowski C, Distelmaier F, Averdunk L, Knaus A, Krawitz P, Kuechler A, Lainka E, Stalke A, von Hardenberg S, Auber B, Pfister ED, Reversade B, Sabbagh A, Bertoli-Avella AM, Alawbathani S, Palmer EE, Chauhan M, Rius R, Kim Y; Australian Undiagnosed Diseases Network (UDN-Aus); Papingi D, Bartholdi D, Braun D, Maier O, Dinwiddie A, Steichen-Gersdorf E, Janecke AR, Tiulpakov A, Zernov N, Arismendi MI, Jorge AAL, Goel H, Dreyer L, Loughman L, Prokisch H, Borgmann K, Kutsche K. Tibbe D, et al. Among authors: reversade b. Am J Hum Genet. 2026 May 7;113(5):1067-1089. doi: 10.1016/j.ajhg.2026.03.010. Epub 2026 Apr 9. Am J Hum Genet. 2026. PMID: 41962535 Free article.
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A. Ramakrishna NB, et al. Among authors: reversade b. Am J Hum Genet. 2025 May 1;112(5):1233-1246. doi: 10.1016/j.ajhg.2025.03.013. Epub 2025 Apr 10. Am J Hum Genet. 2025. PMID: 40215970 Free PMC article.
Genomics of rare diseases in the Greater Middle East.
Chekroun I, Shenbagam S, Almarri MA, Mokrab Y, Uddin M, Alkhnbashi OS, Zaki MS, Najmabadi H, Kahrizi K, Fakhro KA, Almontashiri NAM, Ali FR, Özbek U, Reversade B, Alkuraya FS, Alsheikh-Ali A, Abou Tayoun AN. Chekroun I, et al. Among authors: reversade b. Nat Genet. 2025 Mar;57(3):505-514. doi: 10.1038/s41588-025-02075-8. Epub 2025 Feb 3. Nat Genet. 2025. PMID: 39901015 Review.
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B. Szenker-Ravi E, et al. Among authors: reversade b. Am J Hum Genet. 2025 Feb 6;112(2):353-373. doi: 10.1016/j.ajhg.2024.12.006. Epub 2025 Jan 2. Am J Hum Genet. 2025. PMID: 39753129 Free PMC article.
149 results