SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Lee E, Sim S, Choi HJ, Liang EY, Le C, Bina R, Cohen R, George E, Kim SY, Bhat G, Falsey E, Sidlow R, Clinard K, Ben-Shachar S, England E, Menendez B, Herman I, Nielsen S, Punetha J, Bhola P, Hamm JA, Keeney MA, Sitzman N, Berger S, Mehta L, Conn AJ, Downie L, Ashfaq M, Northrup H, Bruel AL, Odent S, Szot JO, Martinez NN, Park S, Refkin J, Good JM, Maurer F, Le Caignec C, Coman DJ, Anderson E, Richards LJ, Dean RJ, Yang C, Choi C, Hwang BJ, Lee JS, Dobyns WB, Choi M, Sherr EH, Chae JH, Kee Y, Argilli E

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DOI: 10.1093/hmg/ddag003
Published: 2026 Feb 23
Container: Human molecular genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1093/hmg/ddag003,
  title = {SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.},
  author = {Lee E and Sim S and Choi HJ and Liang EY and Le C and Bina R and Cohen R and George E and Kim SY and Bhat G and Falsey E and Sidlow R and Clinard K and Ben-Shachar S and England E and Menendez B and Herman I and Nielsen S and Punetha J and Bhola P and Hamm JA and Keeney MA and Sitzman N and Berger S and Mehta L and Conn AJ and Downie L and Ashfaq M and Northrup H and Bruel AL and Odent S and Szot JO and Martinez NN and Park S and Refkin J and Good JM and Maurer F and Le Caignec C and Coman DJ and Anderson E and Richards LJ and Dean RJ and Yang C and Choi C and Hwang BJ and Lee JS and Dobyns WB and Choi M and Sherr EH and Chae JH and Kee Y and Argilli E},
  year = {2026},
  journal = {Human molecular genetics},
  doi = {10.1093/hmg/ddag003},
  url = {https://doi.org/10.1093/hmg/ddag003}
}

RIS

TY  - JOUR
TI  - SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
AU  - Lee E
AU  - Sim S
AU  - Choi HJ
AU  - Liang EY
AU  - Le C
AU  - Bina R
AU  - Cohen R
AU  - George E
AU  - Kim SY
AU  - Bhat G
AU  - Falsey E
AU  - Sidlow R
AU  - Clinard K
AU  - Ben-Shachar S
AU  - England E
AU  - Menendez B
AU  - Herman I
AU  - Nielsen S
AU  - Punetha J
AU  - Bhola P
AU  - Hamm JA
AU  - Keeney MA
AU  - Sitzman N
AU  - Berger S
AU  - Mehta L
AU  - Conn AJ
AU  - Downie L
AU  - Ashfaq M
AU  - Northrup H
AU  - Bruel AL
AU  - Odent S
AU  - Szot JO
AU  - Martinez NN
AU  - Park S
AU  - Refkin J
AU  - Good JM
AU  - Maurer F
AU  - Le Caignec C
AU  - Coman DJ
AU  - Anderson E
AU  - Richards LJ
AU  - Dean RJ
AU  - Yang C
AU  - Choi C
AU  - Hwang BJ
AU  - Lee JS
AU  - Dobyns WB
AU  - Choi M
AU  - Sherr EH
AU  - Chae JH
AU  - Kee Y
AU  - Argilli E
PY  - 2026
JO  - Human molecular genetics
DO  - 10.1093/hmg/ddag003
UR  - https://doi.org/10.1093/hmg/ddag003
ER  -

APA

E, L., S, S., HJ, C., EY, L., C, L., R, B., R, C., E, G., SY, K., G, B., E, F., R, S., K, C., S, B., E, E., B, M., I, H., S, N., J, P., P, B., JA, H., MA, K., N, S., S, B., L, M., AJ, C., L, D., M, A., H, N., AL, B., S, O., JO, S., NN, M., S, P., J, R., JM, G., F, M., C, L. C., DJ, C., E, A., LJ, R., RJ, D., C, Y., C, C., BJ, H., JS, L., WB, D., M, C., EH, S., JH, C., Y, K., & E, A. (2026). SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.. Human molecular genetics. https://doi.org/10.1093/hmg/ddag003

Source records

pubmed · retrieved 2026-09-25T05:21:44.557Z