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» Authors » Eva Wohlleber

Eva Wohlleber

Explore the profile of Eva Wohlleber including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 16
Citations 1125
Followers 0
Related Specialties
Genetics
General Medicine
Biochemistry
Top 10 Co-Authors
Hartmut Engels
Alexander M Zink
Dagmar Wieczorek
Tim M Strom
Kirsten Cremer
Christiane Zweier
Anita Rauch
Ute Moog
Maja Hempel
Andre Reis
Published In
Am J Med Genet A
Eur J Hum Genet
Am J Hum Genet
Hum Mutat
BMC Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
[Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]
Degenhardt F, Wohlleber E, Abou Jamra R, Hebebrand J
Z Kinder Jugendpsychiatr Psychother . 2023 Aug; 52(1):43-59. PMID: 37641943
Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions Health insurance covers medically necessary genetic testing in Germany. Diagnostic genetic testing...
2.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser I, Becker J, Cremer K, Hundertmark H, Yates L, Mangold E, et al.
Am J Med Genet A . 2020 Feb; 182(5):1021-1031. PMID: 32065501
Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L...
3.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, et al.
Am J Med Genet A . 2016 Nov; 173(2):435-443. PMID: 27862890
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is...
4.
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Ehret J, Engels H, Cremer K, Becker J, Zimmermann J, Wohlleber E, et al.
Mol Cytogenet . 2015 Oct; 8:72. PMID: 26421060
Background: Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other...
5.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, et al.
Am J Hum Genet . 2015 Sep; 97(3):493-500. PMID: 26340335
CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome...
6.
Recurrent null mutation in SPG20 leads to Troyer syndrome
Tawamie H, Wohlleber E, Uebe S, Schmal C, Nothen M, Abou Jamra R
Mol Cell Probes . 2015 May; 29(5):315-8. PMID: 26003402
Troyer syndrome is an autosomal recessive form of complex hereditary spastic paraplegia. To date, the disorder has only been described in the Amish and in kindred from Oman. In Amish,...
7.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Kuechler A, Zink A, Wieland T, Ludecke H, Cremer K, Salviati L, et al.
Eur J Hum Genet . 2014 Aug; 23(6):753-60. PMID: 25138099
Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies...
8.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al.
Lancet . 2012 Oct; 380(9854):1674-82. PMID: 23020937
Background: The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about the position of such genes, and suitable screening methods....
9.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
Hoyer J, Ekici A, Endele S, Popp B, Zweier C, Wiesener A, et al.
Am J Hum Genet . 2012 Mar; 90(3):565-72. PMID: 22405089
Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genes have been identified in X-linked,...
10.
A phenotype map for 14q32.3 terminal deletions
Engels H, Schuler H, Zink A, Wohlleber E, Brockschmidt A, Hoischen A, et al.
Am J Med Genet A . 2012 Feb; 158A(4):695-706. PMID: 22367666
Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype...