Publications:

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CREBBP: 3374A>G; Y1125C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Hgg Advances

Levy, Michael A MA; McConkey, Haley H; Kerkhof, Jennifer J; Barat-Houari, Mouna M; Bargiacchi, Sara S; Biamino, Elisa E; Bralo, María Palomares MP; Cappuccio, Gerarda G; Ciolfi, Andrea A; Clarke, Angus A; DuPont, Barbara R BR; Elting, Mariet W MW; Faivre, Laurence L; Fee, Timothy T; Fletcher, Robin S RS; Cherik, Florian F; Foroutan, Aidin A; Friez, Michael J MJ; Gervasini, Cristina C; Haghshenas, Sadegheh S; Hilton, Benjamin A BA; Jenkins, Zandra Z; Kaur, Simranpreet S; Lewis, Suzanne S; Louie, Raymond J RJ; Maitz, Silvia S; Milani, Donatella D; Morgan, Angela T AT; Oegema, Renske R; Østergaard, Elsebet E; Pallares, Nathalie Ruiz NR; Piccione, Maria M; Pizzi, Simone S; Plomp, Astrid S AS; Poulton, Cathryn C; Reilly, Jack J; Relator, Raissa R; Rius, Rocio R; Robertson, Stephen S; Rooney, Kathleen K; Rousseau, Justine J; Santen, Gijs W E GWE; Santos-Simarro, Fernando F; Schijns, Josephine J; Squeo, Gabriella Maria GM; St John, Miya M; Thauvin-Robinet, Christel C; Traficante, Giovanna G; van der Sluijs, Pleuntje J PJ; Vergano, Samantha A SA; Vos, Niels N; Walden, Kellie K KK; Azmanov, Dimitar D; Balci, Tugce T; Banka, Siddharth S; Gecz, Jozef J; Henneman, Peter P; Lee, Jennifer A JA; Mannens, Marcel M A M MMAM; Roscioli, Tony T; Siu, Victoria V; Amor, David J DJ; Baynam, Gareth G; Bend, Eric G EG; Boycott, Kym K; Brunetti-Pierri, Nicola N; Campeau, Philippe M PM; Christodoulou, John J; Dyment, David D; Esber, Natacha N; Fahrner, Jill A JA; Fleming, Mark D MD; Genevieve, David D; Kerrnohan, Kristin D KD; McNeill, Alisdair A; Menke, Leonie A LA; Merla, Giuseppe G; Prontera, Paolo P; Rockman-Greenberg, Cheryl C; Schwartz, Charles C; Skinner, Steven A SA; Stevenson, Roger E RE; Vitobello, Antonio A; Tartaglia, Marco M; Alders, Marielle M; Tedder, Matthew L ML; Sadikovic, Bekim B

Publication Date: 2022-01-13

Variant appearance in text: CREBBP: 3374A>G; Tyr1125Cys

PubMed Link: 35047860

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: CREBBP: 3374A>G; Y1125C

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: CREBBP: 3374A>G; Y1125C

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: CREBBP: Tyr1125Cys

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Nature Communications

Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG

Publication Date: 2017-10-20

Variant appearance in text: CREBBP: 3374A>G; Y1125C

PubMed Link: 29051493

Variant Present in the following documents:

• 41467_2017_933_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---