Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T

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DOI
10.1016/j.ajhg.2024.06.008
Published
2024 Aug 8
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2024.06.008,
  title = {Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.},
  author = {Rots D and Bouman A and Yamada A and Levy M and Dingemans AJM and de Vries BBA and Ruiterkamp-Versteeg M and de Leeuw N and Ockeloen CW and Pfundt R and de Boer E and Kummeling J and van Bon B and van Bokhoven H and Kasri NN and Venselaar H and Alders M and Kerkhof J and McConkey H and Kuechler A and Elffers B and van Beeck Calkoen R and Hofman S and Smith A and Valenzuela MI and Srivastava S and Frazier Z and Maystadt I and Piscopo C and Merla G and Balasubramanian M and Santen GWE and Metcalfe K and Park SM and Pasquier L and Banka S and Donnai D and Weisberg D and Strobl-Wildemann G and Wagemans A and Vreeburg M and Baralle D and Foulds N and Scurr I and Brunetti-Pierri N and van Hagen JM and Bijlsma EK and Hakonen AH and Courage C and Genevieve D and Pinson L and Forzano F and Deshpande C and Kluskens ML and Welling L and Plomp AS and Vanhoutte EK and Kalsner L and Hol JA and Putoux A and Lazier J and Vasudevan P and Ames E and O'Shea J and Lederer D and Fleischer J and O'Connor M and Pauly M and Vasileiou G and Reis A and Kiraly-Borri C and Bouman A and Barnett C and Nezarati M and Borch L and Beunders G and Özcan K and Miot S and Volker-Touw CML and van Gassen KLI and Cappuccio G and Janssens K and Mor N and Shomer I and Dominissini D and Tedder ML and Muir AM and Sadikovic B and Brunner HG and Vissers LELM and Shinkai Y and Kleefstra T},
  year = {2024},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2024.06.008},
  url = {https://doi.org/10.1016/j.ajhg.2024.06.008}
}

RIS

TY  - JOUR
TI  - Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
AU  - Rots D
AU  - Bouman A
AU  - Yamada A
AU  - Levy M
AU  - Dingemans AJM
AU  - de Vries BBA
AU  - Ruiterkamp-Versteeg M
AU  - de Leeuw N
AU  - Ockeloen CW
AU  - Pfundt R
AU  - de Boer E
AU  - Kummeling J
AU  - van Bon B
AU  - van Bokhoven H
AU  - Kasri NN
AU  - Venselaar H
AU  - Alders M
AU  - Kerkhof J
AU  - McConkey H
AU  - Kuechler A
AU  - Elffers B
AU  - van Beeck Calkoen R
AU  - Hofman S
AU  - Smith A
AU  - Valenzuela MI
AU  - Srivastava S
AU  - Frazier Z
AU  - Maystadt I
AU  - Piscopo C
AU  - Merla G
AU  - Balasubramanian M
AU  - Santen GWE
AU  - Metcalfe K
AU  - Park SM
AU  - Pasquier L
AU  - Banka S
AU  - Donnai D
AU  - Weisberg D
AU  - Strobl-Wildemann G
AU  - Wagemans A
AU  - Vreeburg M
AU  - Baralle D
AU  - Foulds N
AU  - Scurr I
AU  - Brunetti-Pierri N
AU  - van Hagen JM
AU  - Bijlsma EK
AU  - Hakonen AH
AU  - Courage C
AU  - Genevieve D
AU  - Pinson L
AU  - Forzano F
AU  - Deshpande C
AU  - Kluskens ML
AU  - Welling L
AU  - Plomp AS
AU  - Vanhoutte EK
AU  - Kalsner L
AU  - Hol JA
AU  - Putoux A
AU  - Lazier J
AU  - Vasudevan P
AU  - Ames E
AU  - O'Shea J
AU  - Lederer D
AU  - Fleischer J
AU  - O'Connor M
AU  - Pauly M
AU  - Vasileiou G
AU  - Reis A
AU  - Kiraly-Borri C
AU  - Bouman A
AU  - Barnett C
AU  - Nezarati M
AU  - Borch L
AU  - Beunders G
AU  - Özcan K
AU  - Miot S
AU  - Volker-Touw CML
AU  - van Gassen KLI
AU  - Cappuccio G
AU  - Janssens K
AU  - Mor N
AU  - Shomer I
AU  - Dominissini D
AU  - Tedder ML
AU  - Muir AM
AU  - Sadikovic B
AU  - Brunner HG
AU  - Vissers LELM
AU  - Shinkai Y
AU  - Kleefstra T
PY  - 2024
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2024.06.008
UR  - https://doi.org/10.1016/j.ajhg.2024.06.008
ER  -

APA

D, R., A, B., A, Y., M, L., AJM, D., BBA, D. V., M, R., N, D. L., CW, O., R, P., E, D. B., J, K., B, V. B., H, V. B., NN, K., H, V., M, A., J, K., H, M., A, K., B, E., R, V. B. C., S, H., A, S., MI, V., S, S., Z, F., I, M., C, P., G, M., M, B., GWE, S., K, M., SM, P., L, P., S, B., D, D., D, W., G, S., A, W., M, V., D, B., N, F., I, S., N, B., JM, V. H., EK, B., AH, H., C, C., D, G., L, P., F, F., C, D., ML, K., L, W., AS, P., EK, V., L, K., JA, H., A, P., J, L., P, V., E, A., J, O., D, L., J, F., M, O., M, P., G, V., A, R., C, K., A, B., C, B., M, N., L, B., G, B., K, Ö., S, M., CML, V., KLI, V. G., G, C., K, J., N, M., I, S., D, D., ML, T., AM, M., B, S., HG, B., LELM, V., Y, S., & T, K. (2024). Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2024.06.008

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