Matthew L Tedder
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Explore the profile of Matthew L Tedder including associated specialties, affiliations and a list of published articles.
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24
Citations
233
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Recent Articles
11.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
medRxiv
. 2023 Oct;
PMID: 37873138
Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but...
12.
Vos N, Reilly J, Elting M, Campeau P, Coman D, Stark Z, et al.
Epigenomics
. 2023 May;
15(6):351-367.
PMID: 37249002
Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology....
13.
Haghshenas S, Foroutan A, Bhai P, Levy M, Relator R, Kerkhof J, et al.
Eur J Hum Genet
. 2023 Feb;
31(8):879-886.
PMID: 36797465
The challenges and ambiguities in providing an accurate diagnosis for patients with neurodevelopmental disorders have led researchers to apply epigenetics as a technique to validate the diagnosis provided based on...
14.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, et al.
Int J Mol Sci
. 2022 Nov;
23(22).
PMID: 36430143
Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the (Thyroid Hormone Receptor Interactor 12) gene. encodes an E3 ligase in the ubiquitin pathway....
15.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy M, Tedder M, et al.
Genet Med
. 2022 Nov;
25(1):63-75.
PMID: 36399132
Purpose: Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental...
16.
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...
17.
Levy M, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, et al.
Hum Mutat
. 2022 Jul;
43(11):1609-1628.
PMID: 35904121
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently...
18.
Levy M, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, et al.
HGG Adv
. 2022 Jan;
3(1):100075.
PMID: 35047860
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical...
19.
Gooch C, Souder J, Tedder M, Kerkhof J, Lee J, Louie R, et al.
Am J Med Genet A
. 2022 Jan;
188(5):1550-1555.
PMID: 35040536
Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth....
20.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, et al.
Genet Med
. 2022 Jan;
24(4):905-914.
PMID: 35027293
Purpose: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to...