Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M, TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S, Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY

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DOI: 10.1016/j.ajhg.2022.03.002
Published: 2022 Apr 7
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2022.03.002,
  title = {Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.},
  author = {Stephenson SEM and Costain G and Blok LER and Silk MA and Nguyen TB and Dong X and Alhuzaimi DE and Dowling JJ and Walker S and Amburgey K and Hayeems RZ and Rodan LH and Schwartz MA and Picker J and Lynch SA and Gupta A and Rasmussen KJ and Schimmenti LA and Klee EW and Niu Z and Agre KE and Chilton I and Chung WK and Revah-Politi A and Au PYB and Griffith C and Racobaldo M and Raas-Rothschild A and Ben Zeev B and Barel O and Moutton S and Morice-Picard F and Carmignac V and Cornaton J and Marle N and Devinsky O and Stimach C and Wechsler SB and Hainline BE and Sapp K and Willems M and Bruel AL and Dias KR and Evans CA and Roscioli T and Sachdev R and Temple SEL and Zhu Y and Baker JJ and Scheffer IE and Gardiner FJ and Schneider AL and Muir AM and Mefford HC and Crunk A and Heise EM and Millan F and Monaghan KG and Person R and Rhodes L and Richards S and Wentzensen IM and Cogné B and Isidor B and Nizon M and Vincent M and Besnard T and Piton A and Marcelis C and Kato K and Koyama N and Ogi T and Goh ES and Richmond C and Amor DJ and Boyce JO and Morgan AT and Hildebrand MS and Kaspi A and Bahlo M and Friðriksdóttir R and Katrínardóttir H and Sulem P and Stefánsson K and Björnsson HT and Mandelstam S and Morleo M and Mariani M and TUDP Study Group and Scala M and Accogli A and Torella A and Capra V and Wallis M and Jansen S and Weisfisz Q and de Haan H and Sadedin S and Broad Center for Mendelian Genomics and Lim SC and White SM and Ascher DB and Schenck A and Lockhart PJ and Christodoulou J and Tan TY},
  year = {2022},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2022.03.002},
  url = {https://doi.org/10.1016/j.ajhg.2022.03.002}
}

RIS

TY  - JOUR
TI  - Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
AU  - Stephenson SEM
AU  - Costain G
AU  - Blok LER
AU  - Silk MA
AU  - Nguyen TB
AU  - Dong X
AU  - Alhuzaimi DE
AU  - Dowling JJ
AU  - Walker S
AU  - Amburgey K
AU  - Hayeems RZ
AU  - Rodan LH
AU  - Schwartz MA
AU  - Picker J
AU  - Lynch SA
AU  - Gupta A
AU  - Rasmussen KJ
AU  - Schimmenti LA
AU  - Klee EW
AU  - Niu Z
AU  - Agre KE
AU  - Chilton I
AU  - Chung WK
AU  - Revah-Politi A
AU  - Au PYB
AU  - Griffith C
AU  - Racobaldo M
AU  - Raas-Rothschild A
AU  - Ben Zeev B
AU  - Barel O
AU  - Moutton S
AU  - Morice-Picard F
AU  - Carmignac V
AU  - Cornaton J
AU  - Marle N
AU  - Devinsky O
AU  - Stimach C
AU  - Wechsler SB
AU  - Hainline BE
AU  - Sapp K
AU  - Willems M
AU  - Bruel AL
AU  - Dias KR
AU  - Evans CA
AU  - Roscioli T
AU  - Sachdev R
AU  - Temple SEL
AU  - Zhu Y
AU  - Baker JJ
AU  - Scheffer IE
AU  - Gardiner FJ
AU  - Schneider AL
AU  - Muir AM
AU  - Mefford HC
AU  - Crunk A
AU  - Heise EM
AU  - Millan F
AU  - Monaghan KG
AU  - Person R
AU  - Rhodes L
AU  - Richards S
AU  - Wentzensen IM
AU  - Cogné B
AU  - Isidor B
AU  - Nizon M
AU  - Vincent M
AU  - Besnard T
AU  - Piton A
AU  - Marcelis C
AU  - Kato K
AU  - Koyama N
AU  - Ogi T
AU  - Goh ES
AU  - Richmond C
AU  - Amor DJ
AU  - Boyce JO
AU  - Morgan AT
AU  - Hildebrand MS
AU  - Kaspi A
AU  - Bahlo M
AU  - Friðriksdóttir R
AU  - Katrínardóttir H
AU  - Sulem P
AU  - Stefánsson K
AU  - Björnsson HT
AU  - Mandelstam S
AU  - Morleo M
AU  - Mariani M
AU  - TUDP Study Group
AU  - Scala M
AU  - Accogli A
AU  - Torella A
AU  - Capra V
AU  - Wallis M
AU  - Jansen S
AU  - Weisfisz Q
AU  - de Haan H
AU  - Sadedin S
AU  - Broad Center for Mendelian Genomics
AU  - Lim SC
AU  - White SM
AU  - Ascher DB
AU  - Schenck A
AU  - Lockhart PJ
AU  - Christodoulou J
AU  - Tan TY
PY  - 2022
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2022.03.002
UR  - https://doi.org/10.1016/j.ajhg.2022.03.002
ER  -

APA

SEM, S., G, C., LER, B., MA, S., TB, N., X, D., DE, A., JJ, D., S, W., K, A., RZ, H., LH, R., MA, S., J, P., SA, L., A, G., KJ, R., LA, S., EW, K., Z, N., KE, A., I, C., WK, C., A, R., PYB, A., C, G., M, R., A, R., B, B. Z., O, B., S, M., F, M., V, C., J, C., N, M., O, D., C, S., SB, W., BE, H., K, S., M, W., AL, B., KR, D., CA, E., T, R., R, S., SEL, T., Y, Z., JJ, B., IE, S., FJ, G., AL, S., AM, M., HC, M., A, C., EM, H., F, M., KG, M., R, P., L, R., S, R., IM, W., B, C., B, I., M, N., M, V., T, B., A, P., C, M., K, K., N, K., T, O., ES, G., C, R., DJ, A., JO, B., AT, M., MS, H., A, K., M, B., R, F., H, K., P, S., K, S., HT, B., S, M., M, M., M, M., Group, T. S., M, S., A, A., A, T., V, C., M, W., S, J., Q, W., H, D. H., S, S., Genomics, B. C. F. M., SC, L., SM, W., DB, A., A, S., PJ, L., J, C., & TY, T. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2022.03.002

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pubmed · retrieved 2026-09-26T05:26:40.109Z