De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F

Open source

DOI: 10.1016/j.ajhg.2016.08.017
Published: 2016 Oct 6
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.2016.08.017,
  title = {De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.},
  author = {Shashi V and Pena LD and Kim K and Burton B and Hempel M and Schoch K and Walkiewicz M and McLaughlin HM and Cho M and Stong N and Hickey SE and Shuss CM and Undiagnosed Diseases Network and Freemark MS and Bellet JS and Keels MA and Bonner MJ and El-Dairi M and Butler M and Kranz PG and Stumpel CT and Klinkenberg S and Oberndorff K and Alawi M and Santer R and Petrovski S and Kuismin O and Korpi-Heikkilä S and Pietilainen O and Aarno P and Kurki MI and Hoischen A and Need AC and Goldstein DB and Kortüm F},
  year = {2016},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2016.08.017},
  url = {https://doi.org/10.1016/j.ajhg.2016.08.017}
}

RIS

TY  - JOUR
TI  - De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
AU  - Shashi V
AU  - Pena LD
AU  - Kim K
AU  - Burton B
AU  - Hempel M
AU  - Schoch K
AU  - Walkiewicz M
AU  - McLaughlin HM
AU  - Cho M
AU  - Stong N
AU  - Hickey SE
AU  - Shuss CM
AU  - Undiagnosed Diseases Network
AU  - Freemark MS
AU  - Bellet JS
AU  - Keels MA
AU  - Bonner MJ
AU  - El-Dairi M
AU  - Butler M
AU  - Kranz PG
AU  - Stumpel CT
AU  - Klinkenberg S
AU  - Oberndorff K
AU  - Alawi M
AU  - Santer R
AU  - Petrovski S
AU  - Kuismin O
AU  - Korpi-Heikkilä S
AU  - Pietilainen O
AU  - Aarno P
AU  - Kurki MI
AU  - Hoischen A
AU  - Need AC
AU  - Goldstein DB
AU  - Kortüm F
PY  - 2016
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2016.08.017
UR  - https://doi.org/10.1016/j.ajhg.2016.08.017
ER  -

APA

V, S., LD, P., K, K., B, B., M, H., K, S., M, W., HM, M., M, C., N, S., SE, H., CM, S., Network, U. D., MS, F., JS, B., MA, K., MJ, B., M, E., M, B., PG, K., CT, S., S, K., K, O., M, A., R, S., S, P., O, K., S, K., O, P., P, A., MI, K., A, H., AC, N., DB, G., & F, K. (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2016.08.017

Source records

pubmed · retrieved 2026-09-25T13:10:39.888Z