Theresa Grebe
Overview
Explore the profile of Theresa Grebe including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
225
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0
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Recent Articles
1.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
2.
Mattia D, Lindblade C, Oatman O, Prakash S, Grebe T
J Pediatr Genet
. 2024 Nov;
13(4):315-319.
PMID: 39502852
We present a patient with a complex phenotype including diagnoses of Ebstein's anomaly and Prader-Willi syndrome (PWS) as well as additional congenital anomalies and genetic variants with potential clinical effects....
3.
Yang M, Rubin A, Wondimu R, Grebe T, Ritfeld G
BMC Psychiatry
. 2023 Jun;
23(1):483.
PMID: 37386468
This report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This case describes a pediatric female who was diagnosed with early-onset schizophrenia...
4.
Johannesen K, Gardella E, Gjerulfsen C, Bayat A, Rouhl R, Reijnders M, et al.
Neurol Genet
. 2021 Nov;
7(6):e613.
PMID: 34790866
Background And Objectives: Purine-rich element-binding protein A () gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a syndrome characterized by intellectual disability, hypotonia, epilepsy, and...
5.
Li D, Wang Q, Gong N, Kurolap A, Feldman H, Boy N, et al.
Sci Adv
. 2021 May;
7(20).
PMID: 33980485
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe...
6.
Goncalves L, Ramasubramanian A, Grebe T, Riemann M, Moncrief D, Cornejo P
Clin Imaging
. 2021 Mar;
78:121-126.
PMID: 33774578
Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%,...
7.
Bryant L, Li D, Cox S, Marchione D, Joiner E, Wilson K, et al.
Sci Adv
. 2020 Dec;
6(49).
PMID: 33268356
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone...
8.
Douglas G, Cho M, Telegrafi A, Winter S, Carmichael J, Zackai E, et al.
Am J Med Genet A
. 2018 Jul;
176(9):1845-1851.
PMID: 30055086
Gross deletions involving the MEIS2 gene have been described in a small number of patients with overlapping phenotypes of atrial or ventricular septal defects, cleft palate, and variable developmental delays...
9.
Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan J, Troester M
Epileptic Disord
. 2016 Aug;
18(3):324-8.
PMID: 27502353
TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy,...
10.
Petrovski S, Kury S, Myers C, Anyane-Yeboa K, Cogne B, Bialer M, et al.
Am J Hum Genet
. 2016 Apr;
98(5):1001-1010.
PMID: 27108799
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding...