Harry G Leitch
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Explore the profile of Harry G Leitch including associated specialties, affiliations and a list of published articles.
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36
Citations
1779
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Recent Articles
1.
Cherkaoui I, Du Q, Egli D, Dion C, Leitch H, Sachedina D, et al.
medRxiv
. 2024 Dec;
PMID: 39711726
Monogenic diabetes, formerly called Maturity-Onset Diabetes of the Young (MODY), involves single-gene mutations, typically with dominant inheritance, and has been associated with variants in 14 genes. Among these, mutations are...
2.
Shah P, Hill R, Dion C, Clark S, Abakir A, Willems J, et al.
Nat Commun
. 2024 May;
15(1):3734.
PMID: 38702312
Mutations in DNA damage response (DDR) factors are associated with human infertility, which affects up to 15% of the population. The DDR is required during germ cell development and meiosis....
3.
Sepulveda-Rincon L, Wang Y, Whilding C, Moyon B, Ojarikre O, Maciulyte V, et al.
Dev Cell
. 2024 Feb;
59(6):695-704.e5.
PMID: 38359835
Primordial germ cells (PGCs) are the earliest precursors of the gametes. During normal development, PGCs only give rise to oocytes or spermatozoa. However, PGCs can acquire pluripotency in vitro by...
4.
Alabdulrazzaq F, AlAnzi T, Al-Balool H, Gardham A, Wakeling E, Leitch H, et al.
Mol Genet Genomic Med
. 2023 Aug;
11(12):e2256.
PMID: 37592902
Background: Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated...
5.
Bernkopf M, Abdullah U, Bush S, Wood K, Ghaffari S, Giannoulatou E, et al.
Nat Commun
. 2023 Feb;
14(1):853.
PMID: 36792598
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1-2% is frequently quoted due to the possibility of parental germline mosaicism;...
6.
Wyrwoll M, Gaasbeek C, Golubickaite I, Stakaitis R, Oud M, Nagirnaja L, et al.
Am J Hum Genet
. 2022 Sep;
109(10):1850-1866.
PMID: 36150389
Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified...
7.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder A, et al.
Eur J Med Genet
. 2022 Jun;
65(8):104541.
PMID: 35718083
Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with...
8.
Santen G, Leitch H, Cobben J
Hum Mutat
. 2022 Mar;
43(8):1082-1088.
PMID: 35266245
The ACMG framework for variant interpretation is well-established and widely used. Although formal guidelines have been published on the establishment of the gene-disease relationships as well, these are not nearly...
9.
Ramakrishna N, Murison K, Miska E, Leitch H
Sex Dev
. 2021 Nov;
15(5-6):411-431.
PMID: 34847550
Germline development varies significantly across metazoans. However, mammalian primordial germ cell (PGC) development has key conserved landmarks, including a critical period of epigenetic reprogramming that precedes sex-specific differentiation and gametogenesis....
10.
Posfai E, Lanner F, Mulas C, Leitch H
Stem Cell Reports
. 2021 May;
16(5):1117-1141.
PMID: 33979598
Detailed studies of the embryo allow an increasingly mechanistic understanding of development, which has proved of profound relevance to human disease. The last decade has seen in vitro cultured stem...