Connie Stumpel
Overview
Explore the profile of Connie Stumpel including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
6
Citations
399
Followers
0
Related Specialty
Related Specialty
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Blok L, Verseput J, Rots D, Venselaar H, Innes A, Stumpel C, et al.
HGG Adv
. 2022 Nov;
4(1):100157.
PMID: 36408368
WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect...
2.
Saeed S, Bonnefond A, Tamanini F, Mirza M, Manzoor J, Janjua Q, et al.
Nat Genet
. 2018 Jan;
50(2):175-179.
PMID: 29311637
Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin-melanocortin pathway in controlling energy balance, appetite and body weight . The majority of loss-of-function mutations...
3.
Fountain M, Aten E, Cho M, Juusola J, Walkiewicz M, Ray J, et al.
Genet Med
. 2016 May;
19(1):45-52.
PMID: 27195816
Purpose: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like...
4.
Stessman H, Willemsen M, Fenckova M, Penn O, Hoischen A, Xiong B, et al.
Am J Hum Genet
. 2016 Mar;
98(3):541-552.
PMID: 26942287
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been...
5.
Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders M, et al.
Am J Hum Genet
. 2015 Aug;
97(2):343-52.
PMID: 26235985
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males...
6.
Maas S, Shaw A, Bikker H, Ludecke H, van der Tuin K, Badura-Stronka M, et al.
Eur J Med Genet
. 2015 Mar;
58(5):279-92.
PMID: 25792522
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting...