Department of Pathology and Genetics

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#	Title	Journal	Year	Citations
1	Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Salivary Gland	Head and Neck Pathology	2017	304
2	The Role of Molecular Testing in the Differential Diagnosis of Salivary Gland Carcinomas	American Journal of Surgical Pathology	2018	154
3	Cell Cycle and Cell Size Dependent Gene Expression Reveals Distinct Subpopulations at Single-Cell Level	Frontiers in Genetics	2017	149
4	Sense-Antisense lncRNA Pair Encoded by Locus 6p22.3 Determines Neuroblastoma Susceptibility via the USP36-CHD7-SOX9 Regulatory Axis	Cancer Cell	2018	122
5	Uterus Transplantation	Transplantation	2018	101
6	Monitoring of Human Uterus Transplantation With Cervical Biopsies: A Provisional Scoring System for Rejection	American Journal of Transplantation	2017	99
7	Intratumor DNA methylation heterogeneity in glioblastoma: implications for DNA methylation-based classification	Neuro-Oncology	2019	83
8	Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions	Nature Communications	2017	77
9	Targeting the Oncogenic Transcriptional Regulator MYB in Adenoid Cystic Carcinoma by Inhibition of IGF1R/AKT Signaling	Journal of the National Cancer Institute	2017	72
10	On inflammation‐immunological balance theory—A critical apprehension of disease concepts around implants: Mucositis and marginal bone loss may represent normal conditions and not necessarily a state of disease	Clinical Implant Dentistry and Related Research	2019	71
11	Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature	PLoS Genetics	2017	67
12	Rho-associated kinase is a therapeutic target in neuroblastoma	Proceedings of the National Academy of Sciences of the United States of America	2017	52
13	Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib	Journal of Physical Education and Sports Management	2018	47
14	Bone loss around oral and orthopedic implants: An immunologically based condition	Clinical Implant Dentistry and Related Research	2019	44
15	Patient-Derived Xenograft Models Reveal Intratumor Heterogeneity and Temporal Stability in Neuroblastoma	Cancer Research	2018	40
16	Pediatric brain tumor cells release exosomes with a miRNA repertoire that differs from exosomes secreted by normal cells	Oncotarget	2017	39
17	Sortilin inhibition limits secretion-induced progranulin-dependent breast cancer progression and cancer stem cell expansion	Breast Cancer Research	2018	39
18	Single-nuclei transcriptomes from human adrenal gland reveal distinct cellular identities of low and high-risk neuroblastoma tumors	Nature Communications	2021	38
19	Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24	Human Molecular Genetics	2019	35
20	Cardiomyopathy as presenting sign of glycogenin‐1 deficiency—report of three cases and review of the literature	Journal of Inherited Metabolic Disease	2017	32
21	TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism	Journal of Inherited Metabolic Disease	2019	32
22	Variations among Viruses in Influent Water and Effluent Water at a Wastewater Plant over One Year as Assessed by Quantitative PCR and Metagenomics	Applied and Environmental Microbiology	2020	32
23	Quantification of Torque Teno Virus and Epstein-Barr Virus Is of Limited Value for Predicting the Net State of Immunosuppression After Lung Transplantation	Open Forum Infectious Diseases	2018	31
24	A novel complex neurological phenotype due to a homozygous mutation in FDX2	Brain	2018	29
25	Lack of the brain-specific isoform of apoptosis-inducing factor aggravates cerebral damage in a model of neonatal hypoxia–ischemia	Cell Death and Disease	2019	25
26	RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature	Journal of Inherited Metabolic Disease	2020	23
27	Technical aspects and recommendations for single-cell qPCR	Molecular Aspects of Medicine	2018	22
28	Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies	Journal of Neuropathology and Experimental Neurology	2018	22
29	Item-based analysis of the effects of duloxetine in depression: a patient-level post hoc study	Neuropsychopharmacology	2020	22
30	Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature	Neuromuscular Disorders	2017	21
31	Update on Neuroendocrine Carcinomas of the Larynx	American Journal of Clinical Pathology	2019	19
32	A role for endothelial cells in radiation-induced inflammation	International Journal of Radiation Biology	2018	18
33	A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency	European Journal of Human Genetics	2016	17
34	Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage	Journal of Clinical Endocrinology and Metabolism	2020	17
35	Myopathology in the times of modern genetics	Neuropathology and Applied Neurobiology	2017	16
36	Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner	PLoS ONE	2018	16
37	Data Set for the Reporting of Carcinomas of the Major Salivary Glands: Explanations and Recommendations of the Guidelines From the International Collaboration on Cancer Reporting	Archives of Pathology and Laboratory Medicine	2019	16
38	On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion	American Journal of Medical Genetics, Part A	2017	15
39	Genomic and immunohistochemical characterisation of a lacrimal gland oncocytoma and review of literature	Oncology Letters	2017	15
40	Cell line-based xenograft mouse model of paediatric glioma stem cells mirrors the clinical course of the patient	Carcinogenesis	2018	15
41	Hypoxia‐induced secretion stimulates breast cancer stem cell regulatory signalling pathways	Molecular Oncology	2019	15
42	Management of BK-virus infection – Swedish recommendations	Infectious Diseases	2019	15
43	Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles	Brain	2020	15
44	A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness	Journal of Neurology	2016	14
45	Polyglucosan myopathy and functional characterization of a novel GYG1 mutation	Acta Neurologica Scandinavica	2018	14
46	Hepatitis E Virus Genotype 3 Genomes from RNA-Positive but Serologically Negative Plasma Donors Have CUG as the Start Codon for ORF3	Intervirology	2018	14
47	Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment	Scientific Reports	2019	14
48	Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations	Neuromuscular Disorders	2019	14
49	MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression	PLoS Genetics	2020	14
50	Spatially correlated phenotyping reveals K5-positive luminal progenitor cells and p63-K5/14-positive stem cell-like cells in human breast epithelium	Laboratory Investigation	2018	12

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