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GREGoR: accelerating genomics for rare diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. Dawood M, et al. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. Nature. 2025. PMID: 41224980
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: romo l. 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.
Endocrine features of primary mitochondrial diseases.
Romo L, Gold NB, Walker MA. Romo L, et al. Curr Opin Endocrinol Diabetes Obes. 2024 Feb 1;31(1):34-42. doi: 10.1097/MED.0000000000000848. Epub 2023 Dec 4. Curr Opin Endocrinol Diabetes Obes. 2024. PMID: 38047549 Free PMC article. Review.