Sander Stegmann
Overview
Explore the profile of Sander Stegmann including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
129
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0
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Recent Articles
1.
Favier M, Brischoux-Boucher E, Pyle L, Mottet N, Auber-Lenoir M, Cattin J, et al.
Prenat Diagn
. 2024 Nov;
44(13):1647-1658.
PMID: 39542847
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have...
2.
Peluso F, Caraffi S, Contro G, Valeri L, Napoli M, Carboni G, et al.
J Med Genet
. 2023 Aug;
60(12):1224-1234.
PMID: 37586838
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures....
3.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
medRxiv
. 2023 Jul;
PMID: 37398376
Purpose: variants in (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic...
4.
Delanne J, Lecat M, Blackburn P, Klee E, Stumpel C, Stegmann S, et al.
Eur J Med Genet
. 2022 Nov;
66(1):104670.
PMID: 36414205
Background: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature. Methods: Using exome sequencing (ES) and...
5.
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...
6.
ORawe J, Wu Y, Dorfel M, Rope A, Au P, Parboosingh J, et al.
Am J Hum Genet
. 2015 Dec;
97(6):922-32.
PMID: 26637982
We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all...