Matthew L Tedder
Overview
Explore the profile of Matthew L Tedder 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
24
Citations
233
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy M, et al.
Am J Hum Genet
. 2025 Jan;
112(2):414-427.
PMID: 39824190
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense...
2.
German R, Vuocolo B, Vossaert L, Saba L, Fletcher R, Tedder M, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63849.
PMID: 39166703
We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent...
3.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
4.
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet
. 2024 Aug;
111(8):1643-1655.
PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
5.
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1605-1625.
PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
6.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, et al.
Am J Med Genet C Semin Med Genet
. 2024 Jun;
196(4):e32089.
PMID: 38884529
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused...
7.
Vos N, Haghshenas S, van der Laan L, Russel P, Rooney K, Levy M, et al.
Hum Genet
. 2024 May;
143(6):761-773.
PMID: 38787418
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the...
8.
Kerkhof J, Rastin C, Levy M, Relator R, McConkey H, Demain L, et al.
Genet Med
. 2024 Jan;
26(5):101075.
PMID: 38251460
Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical...
9.
Karimi K, Mol M, Haghshenas S, Relator R, Levy M, Kerkhof J, et al.
Genet Med
. 2023 Dec;
26(3):101041.
PMID: 38054406
Purpose: The main objective of this study was to assess clinical features and genome-wide DNA methylation profiles in individuals affected by intellectual developmental disorder, autosomal dominant 21 (IDD21) syndrome, caused...
10.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Wang J, Foroutan A, Richardson E, Skinner S, Reilly J, Kerkhof J, et al.
Eur J Hum Genet
. 2023 Dec;
PMID: 38040915
No abstract available.