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Antje Wiesener

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
2012 · Anita Rauch, Dagmar Wieczorek, et al. · The Lancet · 1,043
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
2012 · Juliane Hoyer, Arif B. Ekici, et al. · The American Journal of Human Genetics · 263
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
2017 · Nadine N. Hauer, Bernt Popp, et al. · Genetics in Medicine · 142
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
2021 · Madelyn A. Gillentine, Tianyun Wang, et al. · Genome Medicine · 112
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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
2014 · Arif B. Ekici, Thomas Hackenbeck, et al. · Kidney International · 104
Exome Pool-Seq in neurodevelopmental disorders
2017 · Bernt Popp, Arif B. Ekici, et al. · European Journal of Human Genetics · 94
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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
2019 · Robert Behne, Julian Teinert, et al. · Human Molecular Genetics · 76
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
2017 · Nadine N. Hauer, Heinrich Sticht, et al. · Scientific Reports · 76
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
2019 · Darius Ebrahimi-Fakhari, Julian Teinert, et al. · Brain · 75
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Rare Copy Number Variants Are a Common Cause of Short Stature
2013 · Diana Zahnleiter, Steffen Uebe, et al. · PLoS Genetics · 70
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
2019 · Dov Tiosano, Hagit Baris Feldman, et al. · PLoS Genetics · 65
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ARHGEF9 disease
2017 · Michael Alber, Vera M. Kalscheuer, et al. · Neurology Genetics · 41
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Is MED13L-related intellectual disability a recognizable syndrome?
2018 · Pernille Mathiesen Tørring, Martin Jakob Larsen, et al. · European Journal of Medical Genetics · 35
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
2022 · Florian J. Wopperer, Karl X. Knaup, et al. · Kidney International · 29
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 · Fuad Chowdhury, Lei Wang, et al. · Genetics in Medicine · 24
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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
2020 · Anna Fliedner, Philipp Kirchner, et al. · The American Journal of Human Genetics · 24
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
2019 · Nadine N. Hauer, Bernt Popp, et al. · European Journal of Human Genetics · 17
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Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6
2022 · Céline B. Gerber, Anna Fliedner, et al. · Clinical Genetics · 13
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 · Gabriella Vera, Arthur Sorlin, et al. · European Journal of Medical Genetics · 13
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 8
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
2018 · Hauer NN, Sticht H, et al. · Yearbook of pediatric endocrinology · 4
Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney
2025 · Lisa Loderbauer, Karl X. Knaup, et al. · Kidney International Reports · 3
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 2
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Molecular diagnosis of kidney transplant failure based on urine
2019 · Antje Wiesener, Karl X. Knaup, et al. · American Journal of Transplantation · 2
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Expanding the prenatal and postnatal phenotype spectrum of HEATR5B-related disorders
2026 · Hamish SCOTT, Thi Thuong Ha, et al. · Research Square
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Works count: 43
Citation count: 2,334
H-index: 17
I10-index: 19
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