Thomas F Wienker
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Explore the profile of Thomas F Wienker including associated specialties, affiliations and a list of published articles.
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93
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4480
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Recent Articles
1.
Foo J, Volker M, Streit F, Frank J, Zacharias N, Zillich L, et al.
Drug Alcohol Depend
. 2024 Aug;
263:112415.
PMID: 39197361
Introduction: Formal genetics studies show that smoking is influenced by genetic factors; exploring this on the molecular level can offer deeper insight into the etiology of smoking behaviours. Methods: Summary...
2.
3.
Boschann F, Fischer-Zirnsak B, Wienker T, Holtgrewe M, Seelow D, Eichhorn B, et al.
Eur J Med Genet
. 2020 Jun;
63(9):103973.
PMID: 32505691
Cohen syndrome (CS) is a rare, autosomal recessive disorder characterized by intellectual disability, postnatal microcephaly, facial abnormalities, abnormal truncal fat distribution, myopia, and pigmentary retinopathy. It is often considered an...
4.
Newell-Morris L, Wienker T, Elias K
Am J Primatol
. 2020 Jan;
19(1):25-37.
PMID: 31964022
Palmar and plantar dermatoglyphic pattern types, area and total pattern intensities (API and TPI), and pattern intensity (PI) profiles are presented for the South American genus Cacajao of the subfamily...
5.
von der Hagen M, Becker L, Wienker T, Smitka M, Musante L, Ropers H, et al.
Neuropediatrics
. 2019 Oct;
51(1):72-75.
PMID: 31627234
Muscular dystrophy-dystroglycanopathies (MDDG) are a group of genetically heterogeneous autosomal recessive disorders characterized by hypoglycosylation of α-dystroglycan. Here, we report on two female patients from a consanguineous Lebanese family that...
6.
Fredrich B, Schmohl M, Junge O, Gundlach S, Ellinghaus D, Pfeufer A, et al.
PLoS One
. 2019 Apr;
14(4):e0215618.
PMID: 31022234
Massively parallel DNA sequencing of clinical samples holds great promise for the gene-based diagnosis of human inherited diseases because it allows rapid detection of putatively causative mutations at genome-wide level....
7.
Kahrizi K, Hu H, Hosseini M, Kalscheuer V, Fattahi Z, Beheshtian M, et al.
Clin Genet
. 2018 Oct;
95(1):151-159.
PMID: 30315573
In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) is very rare. Because of...
8.
Fattahi Z, Sheikh T, Musante L, Rasheed M, Taskiran I, Harripaul R, et al.
Hum Mol Genet
. 2018 Jun;
27(18):3177-3188.
PMID: 29893856
Exploring genes and pathways underlying intellectual disability (ID) provides insight into brain development and function, clarifying the complex puzzle of how cognition develops. As part of ongoing systematic studies to...
9.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, et al.
Mol Psychiatry
. 2018 Jan;
24(7):1027-1039.
PMID: 29302074
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet,...
10.
Ravindran E, Hu H, Yuzwa S, Hernandez-Miranda L, Kraemer N, Ninnemann O, et al.
PLoS Genet
. 2017 Apr;
13(4):e1006746.
PMID: 28453519
Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are...