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MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Among authors: wang w. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: wang w. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: wang w. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
Azimuthal Angle Correlations of Muons Produced via Heavy-Flavor Decays in 5.02 TeV Pb+Pb and pp Collisions with the ATLAS Detector.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, A… See abstract for full author list ➔ Aad G, et al. Among authors: wang w, wang wt. Phys Rev Lett. 2024 May 17;132(20):202301. doi: 10.1103/PhysRevLett.132.202301. Phys Rev Lett. 2024. PMID: 38829073
Thiophenyl Derivatives of Nicotinamide Are Metabolized by the NAD Salvage Pathway into Unnatural NAD Derivatives That Inhibit IMPDH and Are Toxic to Peripheral Nerve Cancers.
Theodoropoulos PC, Guo HH, Wang W, Crossley E, Rivera Cancel G, Fang M, Nguyen T, Baniasadi H, Williams NS, Ready JM, De Brabander JK, Nijhawan D. Theodoropoulos PC, et al. Among authors: wang w. ACS Chem Biol. 2024 Jun 3. doi: 10.1021/acschembio.4c00170. Online ahead of print. ACS Chem Biol. 2024. PMID: 38829020
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