Antje Wiesener

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.

K. Stark, A. Ekici, Markus Gödel, 2022, Kidney international.

Exome Pool-Seq in neurodevelopmental disorders

A. Ekici, C. Thiel, A. Reis, 2017, European Journal of Human Genetics.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

A. Ekici, D. Wieczorek, H. Dörr, 2017, Scientific Reports.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

H. Sticht, C. Zweier, Antje Wiesener, 2022, Clinical genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

M. Uder, A. Ekici, C. Antignac, 2014, Kidney international.

Rare Copy Number Variants Are a Common Cause of Short Stature

Dagmar Wieczorek, Juliane Hoyer, Arif B. Ekici, 2013, PLoS genetics.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

E. Schröck, A. Ekici, D. Wieczorek, 2012, American journal of human genetics.

Exome Pool-Seq in neurodevelopmental disorders

A. Ekici, C. Thiel, A. Reis, 2017, European Journal of Human Genetics.

Is MED13L-related intellectual disability a recognizable syndrome?

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

A. Ekici, D. Wieczorek, R. Abou Jamra, 2017, Genetics in Medicine.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

D. Segal, J. Lipton, M. Sahin, 2020, Human molecular genetics.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Molecular diagnosis of kidney transplant failure based on urine

K. Amann, M. Schiffer, M. Schueler, 2019, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Is MED13L-related intellectual disability a recognizable syndrome?

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

E. Schröck, A. Ekici, D. Wieczorek, 2012, American journal of human genetics.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

M. Uder, A. Ekici, C. Antignac, 2014, Kidney international.