Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, CAUSES Study, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Genomics England Research Consortium, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT

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DOI
10.1016/j.ajhg.2021.04.007
Published
2021 Jun 3
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2021.04.007,
  title = {Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.},
  author = {Chopra M and McEntagart M and Clayton-Smith J and Platzer K and Shukla A and Girisha KM and Kaur A and Kaur P and Pfundt R and Veenstra-Knol H and Mancini GMS and Cappuccio G and Brunetti-Pierri N and Kortüm F and Hempel M and Denecke J and Lehman A and CAUSES Study and Kleefstra T and Stuurman KE and Wilke M and Thompson ML and Bebin EM and Bijlsma EK and Hoffer MJV and Peeters-Scholte C and Slavotinek A and Weiss WA and Yip T and Hodoglugil U and Whittle A and diMonda J and Neira J and Yang S and Kirby A and Pinz H and Lechner R and Sleutels F and Helbig I and McKeown S and Helbig K and Willaert R and Juusola J and Semotok J and Hadonou M and Short J and Genomics England Research Consortium and Yachelevich N and Lala S and Fernández-Jaen A and Pelayo JP and Klöckner C and Kamphausen SB and Abou Jamra R and Arelin M and Innes AM and Niskakoski A and Amin S and Williams M and Evans J and Smithson S and Smedley D and de Burca A and Kini U and Delatycki MB and Gallacher L and Yeung A and Pais L and Field M and Martin E and Charles P and Courtin T and Keren B and Iascone M and Cereda A and Poke G and Abadie V and Chalouhi C and Parthasarathy P and Halliday BJ and Robertson SP and Lyonnet S and Amiel J and Gordon CT},
  year = {2021},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2021.04.007},
  url = {https://doi.org/10.1016/j.ajhg.2021.04.007}
}

RIS

TY  - JOUR
TI  - Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
AU  - Chopra M
AU  - McEntagart M
AU  - Clayton-Smith J
AU  - Platzer K
AU  - Shukla A
AU  - Girisha KM
AU  - Kaur A
AU  - Kaur P
AU  - Pfundt R
AU  - Veenstra-Knol H
AU  - Mancini GMS
AU  - Cappuccio G
AU  - Brunetti-Pierri N
AU  - Kortüm F
AU  - Hempel M
AU  - Denecke J
AU  - Lehman A
AU  - CAUSES Study
AU  - Kleefstra T
AU  - Stuurman KE
AU  - Wilke M
AU  - Thompson ML
AU  - Bebin EM
AU  - Bijlsma EK
AU  - Hoffer MJV
AU  - Peeters-Scholte C
AU  - Slavotinek A
AU  - Weiss WA
AU  - Yip T
AU  - Hodoglugil U
AU  - Whittle A
AU  - diMonda J
AU  - Neira J
AU  - Yang S
AU  - Kirby A
AU  - Pinz H
AU  - Lechner R
AU  - Sleutels F
AU  - Helbig I
AU  - McKeown S
AU  - Helbig K
AU  - Willaert R
AU  - Juusola J
AU  - Semotok J
AU  - Hadonou M
AU  - Short J
AU  - Genomics England Research Consortium
AU  - Yachelevich N
AU  - Lala S
AU  - Fernández-Jaen A
AU  - Pelayo JP
AU  - Klöckner C
AU  - Kamphausen SB
AU  - Abou Jamra R
AU  - Arelin M
AU  - Innes AM
AU  - Niskakoski A
AU  - Amin S
AU  - Williams M
AU  - Evans J
AU  - Smithson S
AU  - Smedley D
AU  - de Burca A
AU  - Kini U
AU  - Delatycki MB
AU  - Gallacher L
AU  - Yeung A
AU  - Pais L
AU  - Field M
AU  - Martin E
AU  - Charles P
AU  - Courtin T
AU  - Keren B
AU  - Iascone M
AU  - Cereda A
AU  - Poke G
AU  - Abadie V
AU  - Chalouhi C
AU  - Parthasarathy P
AU  - Halliday BJ
AU  - Robertson SP
AU  - Lyonnet S
AU  - Amiel J
AU  - Gordon CT
PY  - 2021
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2021.04.007
UR  - https://doi.org/10.1016/j.ajhg.2021.04.007
ER  -

APA

M, C., M, M., J, C., K, P., A, S., KM, G., A, K., P, K., R, P., H, V., GMS, M., G, C., N, B., F, K., M, H., J, D., A, L., Study, C., T, K., KE, S., M, W., ML, T., EM, B., EK, B., MJV, H., C, P., A, S., WA, W., T, Y., U, H., A, W., J, D., J, N., S, Y., A, K., H, P., R, L., F, S., I, H., S, M., K, H., R, W., J, J., J, S., M, H., J, S., Consortium, G. E. R., N, Y., S, L., A, F., JP, P., C, K., SB, K., R, A. J., M, A., AM, I., A, N., S, A., M, W., J, E., S, S., D, S., A, D. B., U, K., MB, D., L, G., A, Y., L, P., M, F., E, M., P, C., T, C., B, K., M, I., A, C., G, P., V, A., C, C., P, P., BJ, H., SP, R., S, L., J, A., & CT, G. (2021). Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2021.04.007

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