Department of Human Genetics

130(top 1%)

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#	Title	Journal	Year	Citations
1	A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity	Molecular Genetics and Metabolism	1998	1,154
2	Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans	Nature Genetics	2006	419
3	The Mitochondrial Transcription Factor TFAM Coordinates the Assembly of Multiple DNA Molecules into Nucleoid-like Structures	Molecular Biology of the Cell	2007	340
4	Rfx6 directs islet formation and insulin production in mice and humans	Nature	2010	300
5	Glucocorticoids in osteonecrosis of the femoral head: A new understanding of the mechanisms of action	Journal of Steroid Biochemistry and Molecular Biology	2009	294
6	Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)	Mammalian Genome	1998	287
7	Imbalances in Dietary Consumption of Fatty Acids, Vegetables, and Fruits Are Associated With Risk for Crohn's Disease in Children	American Journal of Gastroenterology	2007	259
8	Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects	American Journal of Medical Genetics Part A	1999	252
9	Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas	Acta Neuropathologica	2013	250
10	Phenylalanine hydroxylase deficiency	Genetics in Medicine	2011	240
11	LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria	Molecular Biology of the Cell	2010	223
12	Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency	Human Molecular Genetics	2003	219
13	Mitochondrial DNA and the Mammalian Oocyte	Current Topics in Developmental Biology	2007	219
14	Oncogenic FAM131B–BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma	Acta Neuropathologica	2011	211
15	Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase	Human Molecular Genetics	2004	203
16	Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism	Nature Genetics	2009	167
17	Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases	Pediatrics	2007	157
18	Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans	PLoS Biology	2012	147
19	The double dealing of cyclin D1	Cell Cycle	2020	141
20	PAHdb 2003: What a locus-specific knowledgebase can do	Human Mutation	2003	124
21	Dietary patterns and risk for Crohnʼs disease in children	Inflammatory Bowel Diseases	2008	120
22	A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability	EMBO Reports	2017	120
23	GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder	Annals of Clinical and Translational Neurology	2015	117
24	New technologies for the detection of circulating tumour cells	British Medical Bulletin	2010	103
25	Pheochromocytoma and paraganglioma syndromes: genetics and management update	Current Oncology	2014	102
26	Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L	American Journal of Human Genetics	2002	100
27	Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly	Genetics in Medicine	2018	92
28	High-dose folic acid supplementation alters the human sperm methylome and is influenced by theMTHFRC677T polymorphism	Human Molecular Genetics	2015	86
29	NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation	Human Molecular Genetics	2009	84
30	Genetic regulation of host responses to Salmonella infection in mice	Genes and Immunity	2002	82
31	Chromatin Remodeling Defects in Pediatric and Young Adult Glioblastoma: A Tale of a Variant Histone 3 Tail	Brain Pathology	2013	74
32	Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles	European Journal of Human Genetics	2018	69
33	Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles	American Journal of Human Genetics	2018	69
34	Update and new concepts in vitamin responsive disorders of folate transport and metabolism	Journal of Inherited Metabolic Disease	2012	67
35	Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband	Journal of Medical Genetics	2011	66
36	A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients	Nature Communications	2018	64
37	DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation	Developmental Biology	2008	62
38	Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3	Orphanet Journal of Rare Diseases	2012	61
39	Pathogenesis and treatment of adult-type granulosa cell tumor of the ovary	Annals of Medicine	2017	61
40	RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis	Nature Communications	2018	61
41	NLRP7, a Nucleotide Oligomerization Domain-like Receptor Protein, Is Required for Normal Cytokine Secretion and Co-localizes with Golgi and the Microtubule-organizing Center	Journal of Biological Chemistry	2011	60
42	Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7	European Journal of Human Genetics	2013	59
43	Beneficial effects of secretory leukocyte protease inhibitor after spinal cord injury	Brain	2010	55
44	Forward Genetic Dissection of Immunity to Infection in the Mouse	Annual Review of Immunology	2008	54
45	The Growth Factor Midkine Is Modulated by Both Glucocorticoid and Retinoid in Fetal Lung Development	American Journal of Respiratory Cell and Molecular Biology	2003	48
46	Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells	Methods in Molecular Biology	2012	47
47	Interleukin 10 (IL‐10) gene variants and susceptibility for paediatric onset Crohn’s disease	Alimentary Pharmacology and Therapeutics	2009	46
48	SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases	European Journal of Human Genetics	2016	46
49	Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	Human Molecular Genetics	2021	45
50	Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism	Journal of Pediatrics	2009	44

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