Connie T R M Stumpel
Overview
Explore the profile of Connie T R M 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
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Articles
15
Citations
402
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Recent Articles
1.
Schwartz C, Aylsworth A, Allanson J, Battaglia A, Carey J, Curry C, et al.
Am J Med Genet A
. 2024 Feb;
194(6):e63514.
PMID: 38329159
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role...
2.
Dingemans A, Truijen K, van de Ven S, Bernier R, Bongers E, Bouman A, et al.
Transl Psychiatry
. 2022 Oct;
12(1):421.
PMID: 36182950
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and...
3.
van der Sanden B, Schobers G, Galbany J, Koolen D, Sinnema M, van Reeuwijk J, et al.
Eur J Hum Genet
. 2022 Sep;
31(1):81-88.
PMID: 36114283
Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard...
4.
van Montfort L, Gerver W, Kooger B, Plat J, Bierau J, Stumpel C, et al.
Horm Res Paediatr
. 2021 Oct;
94(7-8):285-296.
PMID: 34607328
Introduction: Kabuki syndrome (KS) is a genetic disorder with characteristic facial dysmorphisms, short stature, hypertension, and obesity later in life. The aim of this study was to evaluate catch-up growth...
5.
Stamberger H, Hammer T, Gardella E, Vlaskamp D, Bertelsen B, Mandelstam S, et al.
Genet Med
. 2020 Nov;
23(2):363-373.
PMID: 33144681
Purpose: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic...
6.
Swieringa F, Solari F, Pagel O, Beck F, Huang J, Feijge M, et al.
Sci Rep
. 2020 Jul;
10(1):11389.
PMID: 32647264
Patients diagnosed with pseudohypoparathyroidism type Ia (PHP Ia) suffer from hormonal resistance and abnormal postural features, in a condition classified as Albright hereditary osteodystrophy (AHO) syndrome. This syndrome is linked...
7.
Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al.
Nat Commun
. 2019 May;
10(1):2079.
PMID: 31048695
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
8.
Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al.
Nat Commun
. 2019 Feb;
10(1):883.
PMID: 30770872
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in...
9.
Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al.
Nat Commun
. 2018 Nov;
9(1):4619.
PMID: 30397230
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de...
10.
Reijnders M, Janowski R, Alvi M, Self J, van Essen T, Vreeburg M, et al.
J Med Genet
. 2017 Nov;
55(2):104-113.
PMID: 29097605
Background: De novo mutations in have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives: To...