Christian Marshall
Overview
Explore the profile of Christian Marshall including associated specialties, affiliations and a list of published articles.
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20
Citations
818
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Recent Articles
1.
DAmours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, et al.
BMJ Open
. 2024 Sep;
14(9):e090084.
PMID: 39231549
Introduction: Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic...
2.
Dissanayake D, Firouzabady A, Massumi M, de Paz Linares G, Marshall C, Freeman S, et al.
Blood
. 2024 May;
144(11):1183-1192.
PMID: 38820590
Deficiency of X-linked inhibitor of apoptosis protein (XIAP) is a rare genetic condition that can present with recurrent episodes of hemophagocytic lymphohistiocytosis (HLH), though the exact mechanisms leading to this...
3.
Campigotto A, Chris A, Orkin J, Lau L, Marshall C, Bitnun A, et al.
Pediatr Infect Dis J
. 2023 Feb;
42(4):324-331.
PMID: 36795555
Objective: An understanding of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) transmission in schools is important. It is often difficult, using epidemiological information alone, to determine whether cases associated with schools...
4.
Wang Y, Greenfeld E, Watkins N, Belesiotis P, Zaidi S, Marshall C, et al.
Prenat Diagn
. 2022 Jan;
42(7):822-830.
PMID: 35089622
Objective: Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in the post-natal setting. Recent studies demonstrated the utility...
5.
Cleynen I, Engchuan W, Hestand M, Heung T, Holleman A, Johnston H, et al.
Mol Psychiatry
. 2020 Feb;
26(8):4496-4510.
PMID: 32015465
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors...
6.
Damseh N, Stimec J, OBrien A, Marshall C, Savarirayan R, Jawad A, et al.
Orphanet J Rare Dis
. 2019 Jun;
14(1):156.
PMID: 31248428
Background: Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic similarities. Thirty-three cases of Thiemann disease have been described so far (Mangat et al, Ann...
7.
Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, et al.
Clin Case Rep
. 2017 Sep;
5(9):1435-1437.
PMID: 28878897
A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).
8.
Bruun T, DesRoches C, Wilson D, Chau V, Nakagawa T, Yamasaki M, et al.
Genet Med
. 2017 Aug;
20(5):486-494.
PMID: 28817111
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To...
9.
Han C, Alkhater R, Froukh T, Minassian A, Galati M, Liu R, et al.
Am J Hum Genet
. 2016 Nov;
99(6):1359-1367.
PMID: 27866705
Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal brain development. Here, we have identified an epileptic encephalopathy additionally featuring...
10.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam M, Belmont J, et al.
Genet Med
. 2016 May;
18(11):1075-1084.
PMID: 27171546
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and...