The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Tibbe D, Kiel C, Ielesicheva O, Robles de Maruri K, Mahboobi H, Züghart J, Hönck HH, Meier C, Biasella F, Legüe M, Lopez Avaria MF, Blair E, Lester T, Banos-Pinero B, Pulido JS, Schneider A, Procopio R, Quelin C, Leal BJ, Martinez-Agosto JA, Bottomley SA, Till Á, Hadzsiev K, Szalai R, Weaver KN, Fluss J, Margot H, Almoguera B, Lorda-Sánchez I, López-López L, Hamm JA, Goel H, Alanay Y, Akgun Doğan O, Ozkose-Iyigel GŞ, Baujat G, Lesieur-Sebellin M, Rondeau S, Schon K, Christopher J, Isidor B, Cogne B, Agrawal NS, Dahlhauser R, Furuta Y, Rabin R, Pappas J, Patel C, Järvelä I, Rauhala M, Schrauwen I, Leal SM, Banka S, Tharakan R, Pebrel-Richard C, Laffargue F, Durand N, Celse T, Hempel M, Valentin I, Gregorova A, Noskova L, Baumgartner S, Überbacher C, Muru K, Murumets Ü, Lilles S, Steindl K, Rauch A, Ruscitti F, Verloes A, Levy J, Park J, Haack TB, Bader I, Julia S, Banneau G, Muir AM, Lessel D, Kreienkamp HJ

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DOI
10.1186/s13073-026-01745-4
Published
2026 Aug 22
Container
Genome medicine
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13073-026-01745-4,
  title = {The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.},
  author = {Tibbe D and Kiel C and Ielesicheva O and Robles de Maruri K and Mahboobi H and Züghart J and Hönck HH and Meier C and Biasella F and Legüe M and Lopez Avaria MF and Blair E and Lester T and Banos-Pinero B and Pulido JS and Schneider A and Procopio R and Quelin C and Leal BJ and Martinez-Agosto JA and Bottomley SA and Till Á and Hadzsiev K and Szalai R and Weaver KN and Fluss J and Margot H and Almoguera B and Lorda-Sánchez I and López-López L and Hamm JA and Goel H and Alanay Y and Akgun Doğan O and Ozkose-Iyigel GŞ and Baujat G and Lesieur-Sebellin M and Rondeau S and Schon K and Christopher J and Isidor B and Cogne B and Agrawal NS and Dahlhauser R and Furuta Y and Rabin R and Pappas J and Patel C and Järvelä I and Rauhala M and Schrauwen I and Leal SM and Banka S and Tharakan R and Pebrel-Richard C and Laffargue F and Durand N and Celse T and Hempel M and Valentin I and Gregorova A and Noskova L and Baumgartner S and Überbacher C and Muru K and Murumets Ü and Lilles S and Steindl K and Rauch A and Ruscitti F and Verloes A and Levy J and Park J and Haack TB and Bader I and Julia S and Banneau G and Muir AM and Lessel D and Kreienkamp HJ},
  year = {2026},
  journal = {Genome medicine},
  doi = {10.1186/s13073-026-01745-4},
  url = {https://doi.org/10.1186/s13073-026-01745-4}
}

RIS

TY  - JOUR
TI  - The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
AU  - Tibbe D
AU  - Kiel C
AU  - Ielesicheva O
AU  - Robles de Maruri K
AU  - Mahboobi H
AU  - Züghart J
AU  - Hönck HH
AU  - Meier C
AU  - Biasella F
AU  - Legüe M
AU  - Lopez Avaria MF
AU  - Blair E
AU  - Lester T
AU  - Banos-Pinero B
AU  - Pulido JS
AU  - Schneider A
AU  - Procopio R
AU  - Quelin C
AU  - Leal BJ
AU  - Martinez-Agosto JA
AU  - Bottomley SA
AU  - Till Á
AU  - Hadzsiev K
AU  - Szalai R
AU  - Weaver KN
AU  - Fluss J
AU  - Margot H
AU  - Almoguera B
AU  - Lorda-Sánchez I
AU  - López-López L
AU  - Hamm JA
AU  - Goel H
AU  - Alanay Y
AU  - Akgun Doğan O
AU  - Ozkose-Iyigel GŞ
AU  - Baujat G
AU  - Lesieur-Sebellin M
AU  - Rondeau S
AU  - Schon K
AU  - Christopher J
AU  - Isidor B
AU  - Cogne B
AU  - Agrawal NS
AU  - Dahlhauser R
AU  - Furuta Y
AU  - Rabin R
AU  - Pappas J
AU  - Patel C
AU  - Järvelä I
AU  - Rauhala M
AU  - Schrauwen I
AU  - Leal SM
AU  - Banka S
AU  - Tharakan R
AU  - Pebrel-Richard C
AU  - Laffargue F
AU  - Durand N
AU  - Celse T
AU  - Hempel M
AU  - Valentin I
AU  - Gregorova A
AU  - Noskova L
AU  - Baumgartner S
AU  - Überbacher C
AU  - Muru K
AU  - Murumets Ü
AU  - Lilles S
AU  - Steindl K
AU  - Rauch A
AU  - Ruscitti F
AU  - Verloes A
AU  - Levy J
AU  - Park J
AU  - Haack TB
AU  - Bader I
AU  - Julia S
AU  - Banneau G
AU  - Muir AM
AU  - Lessel D
AU  - Kreienkamp HJ
PY  - 2026
JO  - Genome medicine
DO  - 10.1186/s13073-026-01745-4
UR  - https://doi.org/10.1186/s13073-026-01745-4
ER  -

APA

D, T., C, K., O, I., K, R. D. M., H, M., J, Z., HH, H., C, M., F, B., M, L., MF, L. A., E, B., T, L., B, B., JS, P., A, S., R, P., C, Q., BJ, L., JA, M., SA, B., Á, T., K, H., R, S., KN, W., J, F., H, M., B, A., I, L., L, L., JA, H., H, G., Y, A., O, A. D., GŞ, O., G, B., M, L., S, R., K, S., J, C., B, I., B, C., NS, A., R, D., Y, F., R, R., J, P., C, P., I, J., M, R., I, S., SM, L., S, B., R, T., C, P., F, L., N, D., T, C., M, H., I, V., A, G., L, N., S, B., C, Ü., K, M., Ü, M., S, L., K, S., A, R., F, R., A, V., J, L., J, P., TB, H., I, B., S, J., G, B., AM, M., D, L., & HJ, K. (2026). The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.. Genome medicine. https://doi.org/10.1186/s13073-026-01745-4

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