Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM

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DOI: 10.1016/j.ajhg.2021.01.007
Published: 2021 Feb 4
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.2021.01.007,
  title = {Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.},
  author = {den Hoed J and de Boer E and Voisin N and Dingemans AJM and Guex N and Wiel L and Nellaker C and Amudhavalli SM and Banka S and Bena FS and Ben-Zeev B and Bonagura VR and Bruel AL and Brunet T and Brunner HG and Chew HB and Chrast J and Cimbalistienė L and Coon H and DDD Study and Délot EC and Démurger F and Denommé-Pichon AS and Depienne C and Donnai D and Dyment DA and Elpeleg O and Faivre L and Gilissen C and Granger L and Haber B and Hachiya Y and Abedi YH and Hanebeck J and Hehir-Kwa JY and Horist B and Itai T and Jackson A and Jewell R and Jones KL and Joss S and Kashii H and Kato M and Kattentidt-Mouravieva AA and Kok F and Kotzaeridou U and Krishnamurthy V and Kučinskas V and Kuechler A and Lavillaureix A and Liu P and Manwaring L and Matsumoto N and Mazel B and McWalter K and Meiner V and Mikati MA and Miyatake S and Mizuguchi T and Moey LH and Mohammed S and Mor-Shaked H and Mountford H and Newbury-Ecob R and Odent S and Orec L and Osmond M and Palculict TB and Parker M and Petersen AK and Pfundt R and Preikšaitienė E and Radtke K and Ranza E and Rosenfeld JA and Santiago-Sim T and Schwager C and Sinnema M and Snijders Blok L and Spillmann RC and Stegmann APA and Thiffault I and Tran L and Vaknin-Dembinsky A and Vedovato-Dos-Santos JH and Schrier Vergano SA and Vilain E and Vitobello A and Wagner M and Waheeb A and Willing M and Zuccarelli B and Kini U and Newbury DF and Kleefstra T and Reymond A and Fisher SE and Vissers LELM},
  year = {2021},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2021.01.007},
  url = {https://doi.org/10.1016/j.ajhg.2021.01.007}
}

RIS

TY  - JOUR
TI  - Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
AU  - den Hoed J
AU  - de Boer E
AU  - Voisin N
AU  - Dingemans AJM
AU  - Guex N
AU  - Wiel L
AU  - Nellaker C
AU  - Amudhavalli SM
AU  - Banka S
AU  - Bena FS
AU  - Ben-Zeev B
AU  - Bonagura VR
AU  - Bruel AL
AU  - Brunet T
AU  - Brunner HG
AU  - Chew HB
AU  - Chrast J
AU  - Cimbalistienė L
AU  - Coon H
AU  - DDD Study
AU  - Délot EC
AU  - Démurger F
AU  - Denommé-Pichon AS
AU  - Depienne C
AU  - Donnai D
AU  - Dyment DA
AU  - Elpeleg O
AU  - Faivre L
AU  - Gilissen C
AU  - Granger L
AU  - Haber B
AU  - Hachiya Y
AU  - Abedi YH
AU  - Hanebeck J
AU  - Hehir-Kwa JY
AU  - Horist B
AU  - Itai T
AU  - Jackson A
AU  - Jewell R
AU  - Jones KL
AU  - Joss S
AU  - Kashii H
AU  - Kato M
AU  - Kattentidt-Mouravieva AA
AU  - Kok F
AU  - Kotzaeridou U
AU  - Krishnamurthy V
AU  - Kučinskas V
AU  - Kuechler A
AU  - Lavillaureix A
AU  - Liu P
AU  - Manwaring L
AU  - Matsumoto N
AU  - Mazel B
AU  - McWalter K
AU  - Meiner V
AU  - Mikati MA
AU  - Miyatake S
AU  - Mizuguchi T
AU  - Moey LH
AU  - Mohammed S
AU  - Mor-Shaked H
AU  - Mountford H
AU  - Newbury-Ecob R
AU  - Odent S
AU  - Orec L
AU  - Osmond M
AU  - Palculict TB
AU  - Parker M
AU  - Petersen AK
AU  - Pfundt R
AU  - Preikšaitienė E
AU  - Radtke K
AU  - Ranza E
AU  - Rosenfeld JA
AU  - Santiago-Sim T
AU  - Schwager C
AU  - Sinnema M
AU  - Snijders Blok L
AU  - Spillmann RC
AU  - Stegmann APA
AU  - Thiffault I
AU  - Tran L
AU  - Vaknin-Dembinsky A
AU  - Vedovato-Dos-Santos JH
AU  - Schrier Vergano SA
AU  - Vilain E
AU  - Vitobello A
AU  - Wagner M
AU  - Waheeb A
AU  - Willing M
AU  - Zuccarelli B
AU  - Kini U
AU  - Newbury DF
AU  - Kleefstra T
AU  - Reymond A
AU  - Fisher SE
AU  - Vissers LELM
PY  - 2021
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2021.01.007
UR  - https://doi.org/10.1016/j.ajhg.2021.01.007
ER  -

APA

J, D. H., E, D. B., N, V., AJM, D., N, G., L, W., C, N., SM, A., S, B., FS, B., B, B., VR, B., AL, B., T, B., HG, B., HB, C., J, C., L, C., H, C., Study, D., EC, D., F, D., AS, D., C, D., D, D., DA, D., O, E., L, F., C, G., L, G., B, H., Y, H., YH, A., J, H., JY, H., B, H., T, I., A, J., R, J., KL, J., S, J., H, K., M, K., AA, K., F, K., U, K., V, K., V, K., A, K., A, L., P, L., L, M., N, M., B, M., K, M., V, M., MA, M., S, M., T, M., LH, M., S, M., H, M., H, M., R, N., S, O., L, O., M, O., TB, P., M, P., AK, P., R, P., E, P., K, R., E, R., JA, R., T, S., C, S., M, S., L, S. B., RC, S., APA, S., I, T., L, T., A, V., JH, V., SA, S. V., E, V., A, V., M, W., A, W., M, W., B, Z., U, K., DF, N., T, K., A, R., SE, F., & LELM, V. (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2021.01.007

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pubmed · retrieved 2026-09-27T10:15:14.455Z