Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

Reinhard Altmann; Mateja Smogavec; Maria Gerykova Bujalkova; Jürgen Neesen; Jana Behunova; Gülen Yerlikaya-Schatten; Theresa Reischer; Denisa Weis; Hans-Christoph Duba; Franco Laccone; Reinhard Lehner

doi:10.1038/s41431-021-01012-7

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

Reinhard Altmann
, Mateja Smogavec
, Maria Gerykova Bujalkova
, Jürgen Neesen
, Jana Behunova
, Gülen Yerlikaya-Schatten
, Theresa Reischer
, Denisa Weis
, Hans-Christoph Duba
, Franco Laccone
, Reinhard Lehner

Department of Gynecology, Obstetrics and Gynecological Endocrinology

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	428-438
Number of pages	11
Journal	European Journal of Human Genetics
Volume	30
Issue number	4
DOIs	https://doi.org/10.1038/s41431-021-01012-7
Publication status	Published - Apr 2022

Fields of science

302014 Endocrinology
302017 Obstetrics
302022 Gynaecology

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10.1038/s41431-021-01012-7

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Altmann, R., Smogavec, M., Gerykova Bujalkova, M., Neesen, J., Behunova, J., Yerlikaya-Schatten, G., Reischer, T., Weis, D., Duba, H.-C., Laccone, F., & Lehner, R. (2022). Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations. European Journal of Human Genetics, 30(4), 428-438. https://doi.org/10.1038/s41431-021-01012-7

@article{f10dd395670d4ca2b904d5bc6dccc9c0,

title = "Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations",

author = "Reinhard Altmann and Mateja Smogavec and \{Gerykova Bujalkova\}, Maria and J{\"u}rgen Neesen and Jana Behunova and G{\"u}len Yerlikaya-Schatten and Theresa Reischer and Denisa Weis and Hans-Christoph Duba and Franco Laccone and Reinhard Lehner",

year = "2022",

month = apr,

doi = "10.1038/s41431-021-01012-7",

language = "English",

volume = "30",

pages = "428--438",

journal = "European Journal of Human Genetics",

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Altmann, R, Smogavec, M, Gerykova Bujalkova, M, Neesen, J, Behunova, J, Yerlikaya-Schatten, G, Reischer, T, Weis, D, Duba, H-C, Laccone, F & Lehner, R 2022, 'Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations', European Journal of Human Genetics, vol. 30, no. 4, pp. 428-438. https://doi.org/10.1038/s41431-021-01012-7

TY - JOUR

T1 - Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

AU - Altmann, Reinhard

AU - Smogavec, Mateja

AU - Gerykova Bujalkova, Maria

AU - Neesen, Jürgen

AU - Behunova, Jana

AU - Yerlikaya-Schatten, Gülen

AU - Reischer, Theresa

AU - Weis, Denisa

AU - Duba, Hans-Christoph

AU - Laccone, Franco

AU - Lehner, Reinhard

PY - 2022/4

Y1 - 2022/4

UR - https://www.scopus.com/pages/publications/85122101160

U2 - 10.1038/s41431-021-01012-7

DO - 10.1038/s41431-021-01012-7

M3 - Article

C2 - 34974531

SN - 1476-5438

VL - 30

SP - 428

EP - 438

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 4

ER -

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

Fields of science

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