The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors by Maher, G, Bernkopf, M, Koelling, N, Wilkie, A, Meistrich, M, Goriely, A

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation by Calpena, E, Cuellar, A, Bala, K, Koelling, N, McGowan, S, Twigg, S, Wilkie, A, Et al.

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome by Zhou, Y, Koelling, N, Fenwick, A, McGowan, S, Calpena, E, Wall, S, Smithson, S, Wilkie, A, Twigg, S

amplimap: a versatile tool to process and analyze targeted NGS data by Koelling, N, Bernkopf, M, Calpena, E, Maher, G, Miller, K, Ralph, H, Goriely, A, Wilkie, A

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases by Bernkopf, M, Hunt, D, Koelling, N, Morgan, T, Collins, A, Fairhurst, J, Robertson, S, Douglas, A, Goriely, A

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis by Nabais Sa, MJ, Miller, KA, McQuaid, M, Koelling, N, Wilkie, A, Wurtele, H, de Brouwer, APM, Oliveira, J

De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder by Reijnders, M, Miller, K, Alvi, M, Calpena, E, Koelling, N, McGowan, S, Twigg, S, Nellaker, C, Wilkie, A, al., E

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes by Maher, G, Ralph, H, Ding, Z, Koelling, N, Mlcochova, H, Giannoulatou, E, Dhami, P, Paul, D, Stricker, S, Beck, S, McVean, G, Wilkie, A, Goriely, A

The developing mouse coronal suture at single-cell resolution by Farmer, DT, Mlcochova, H, Zhou, Y, Koelling, N, Wang, G, Ashley, N, Bugacov, H, Chen, H-J, Parvez, R, Tseng, K-C, Merrill, AE, Maxson Jr, RE, Wilkie, AOM, Crump, JG, Twigg, SRF

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis by Goos, J, Vogel, W, Mlcochova, H, Millard, C, Esfandiari, E, Selman, S, Calpena Corpas, E, Koelling, N, Carpenter, E, Swagemakers, S, van der Spek, P, Filtz, T, Schwabe, J, Iwaniec, U, Mathijssen, I, Leid, M, Twigg, S

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Bernkopf, M, Abdullah, UB, Bush, SJ, Wood, KA, Ghaffari, S, Koelling, N, Maher, GJ, Williams, J, Blair, EM, Kelly, FB, Bloss, A, Kini, U, Németh, AH, Saunders, K, Shears, DJ, Stewart, H, Clouston, P, Davies, RW, Wilkie, AOM, Goriely, A