Research ExplorerJournalsAM J MED GENET A

AM J MED GENET A - American journal of medical genetics. Part A

Bibliographical data

ISSNs1552-4825
Electronic ISSN 1552-4833

Publications

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
Saadi, A., Navarro, C., Ozalp, O., Lourenco, C. M., Fayek, R., Da Silva, N., Chaouch, A., Benahmed, M., Kubisch, C., Munnich, A., Lévy, N., Roll, P., Pacha, L. A., Chaouch, M., Lessel, D. & De Sandre-Giovannoli, A., 09.2023, In: AM J MED GENET A. 191, 9, p. 2274-2289 16 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract
Kolvenbach, C. M., Zheng, B., Merz, L. M., Mertens, N. D., Mansour, B., Wang, C., Seltzsam, S., Schneider, S., Schierbaum, L., Pantel, D., Chen, J., van der Ven, A. T., Bello, J. O., Shril, S. & Hildebrandt, F., 05.2023, In: AM J MED GENET A. 191, 5, p. 1355-1359 5 p.

Research output: SCORING: Contribution to journal › Case report › Research › peer-review

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Abdalla, E., Alawi, M., Meinecke, P., Kutsche, K. & Harms, F. L., 08.2022, In: AM J MED GENET A. 188, 8, p. 2448-2453 6 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Werner syndrome in a Lebanese family
Jaafar, B., Nasrallah, M., Sievers, B., Oshima, J. & Lessel, D., 05.2022, In: AM J MED GENET A. 188, 5, p. 1630-1634 5 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
Lessel, D., Rading, K., Campbell, S. E., Thiele, H., Altmüller, J., Gordon, L. B. & Kubisch, C., 01.2022, In: AM J MED GENET A. 188, 1, p. 216-223 8 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Märzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H. & Hildebrandt, F., 12.2021, In: AM J MED GENET A. 185, 12, p. 3784-3792 9 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants
Kluwe, L. & Mautner, V. F., 02.2021, In: AM J MED GENET A. 185, 2, p. 602-603 2 p.

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 11.2020, In: AM J MED GENET A. 182, 11, p. 2793-2796 4 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca, E., Posey, J. E., Bostwick, B., Liu, P., Gezdirici, A., Yesil, G., Coban Akdemir, Z., Bayram, Y., Harms, F. L., Meinecke, P., Alawi, M., Bacino, C. A., Sutton, V. R., Kortüm, F. & Lupski, J. R., 10.2019, In: AM J MED GENET A. 179, 10, p. 2056-2066 11 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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