Most cited papers from Medical Genetics Center

Medical Genetics Center

What are the most cited papers from Medical Genetics Center?

The most cited paper from Medical Genetics Center is "Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand" (Young‐Yun Kong et al., 1999), with 1,873 citations. Next come "A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline" (1,763) and "A serine/threonine kinase gene defective in Peutz–Jeghers syndrome" (1,664).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 59 papers. Every paper with more than 268 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand Young‐Yun Kong et al. · Nature	Nov 1999	1,873
2	A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline Thorlákur Jónsson et al. · Nature	10 Jul 2012	1,763
3	A serine/threonine kinase gene defective in Peutz–Jeghers syndrome Akseli Hemminki et al. · Nature	1998	1,664
4	An SCN9A channelopathy causes congenital inability to experience pain James J. Cox, Frank M. Reimann, Adeline K. Nicholas et al. · Nature Open access	Dec 2006	1,618
5	Genes mirror geography within Europe John Novembre, Toby Johnson, Katarzyna Bryc et al. · Nature Open access	31 Aug 2008	1,617
6	Discovery of Atg5/Atg7-independent alternative macroautophagy Yuya Nishida, Satoko Arakawa, Kenji Fujitani et al. · Nature	30 Sep 2009	1,115
7	Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas Kathryn P. Pennington, Tom D. Walsh, Maria I. Harrell et al. · Clinical Cancer Research Open access	15 Nov 2013	1,072
8	Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk Douglas F. Easton, Paul D.P. Pharoah, Antonis C. Antoniou et al. · New England Journal of Medicine Open access	27 May 2015	953
9	Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Tom D. Walsh, Silvia Casadei, Ming K. Lee et al. · Proceedings of the National Academy of Sciences Open access	17 Oct 2011	951
10	Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Eric Legius et al. · Genetics in Medicine Open access	4 Jun 2021	832
11	Low early-life social class leaves a biological residue manifested by decreased glucocorticoid and increased proinflammatory signaling Gregory E. Miller, Edith Chen, Alexandra K. Fok et al. · Proceedings of the National Academy of Sciences Open access	14 Jul 2009	823
12	Assessing Tumor-Infiltrating Lymphocytes in Solid Tumors: A Practical Review for Pathologists and Proposal for a Standardized Method from the International Immuno-Oncology Biomarkers Working Group: Part 2: TILs in Melanoma, Gastrointestinal Tract Carcinomas, Non–Small Cell Lung Carcinoma and Mesothelioma, Endometrial and Ovarian Carcinomas, Squamous Cell Carcinoma of the Head and Neck, Genitourina Shona A. Hendry et al. · Advances in Anatomic Pathology Open access100 authors	2 Aug 2017	816
13	A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci Sreekumar G Pillai, Dongliang Ge, Guohua Zhu et al. · PLoS Genetics Open access	19 Mar 2009	791
14	Assessing Tumor-infiltrating Lymphocytes in Solid Tumors: A Practical Review for Pathologists and Proposal for a Standardized Method From the International Immunooncology Biomarkers Working Group: Part 1: Assessing the Host Immune Response, TILs in Invasive Breast Carcinoma and Ductal Carcinoma In Situ, Metastatic Tumor Deposits and Areas for Further Research Shona A. Hendry et al. · Advances in Anatomic Pathology Open access100 authors	2 Aug 2017	739
15	Visualization of Microtubule Growth in Cultured Neurons via the Use of EB3-GFP (End-Binding Protein 3-Green Fluorescent Protein) Т. Ф. Степанова, Jenny Slemmer, Casper C. Hoogenraad et al. · Journal of Neuroscience Open access	Apr 2003	734
16	Severe neuropathies in mice with targeted mutations in the ErbB3 receptor Dieter Riethmacher, Eva Sonnenberg-Riethmacher, Volker Brinkmann et al. · Nature	Oct 1997	729
17	Epidemiology of Vitiligo and Associated Autoimmune Diseases in Caucasian Probands and Their Families Asem M. Alkhateeb, Pamela R. Fain, A. J. Thody et al. · Pigment Cell Research	13 May 2003	727
18	Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy Paulina Navon Elkan et al. · New England Journal of Medicine	19 Feb 2014	718
19	The UCSC Genome Browser database: 2023 update Luis R Nassar et al. · Nucleic Acids Research Open access	25 Oct 2022	686
20	Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database Mev Dominguez–Valentin et al. · Genetics in Medicine Open access	23 Jul 2019	679
21	A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis Laura J. Niedernhofer, George A. Garinis, Anja Raams et al. · Nature	Dec 2006	672
22	Human L1 Retrotransposition: cis Preference versus trans Complementation Wei Wei, Nicolas Gilbert, Siew Loon Ooi et al. · Molecular and Cellular Biology Open access	Feb 2001	669
23	The UCSC Genome Browser database: 2021 update Jairo Navarro Gonzalez et al. · Nucleic Acids Research Open access	18 Nov 2020	648
24	The UCSC Genome Browser database: 2025 update Gerardo Perez, Galt P Barber, Anna Benet‐Pagès et al. · Nucleic Acids Research Open access	14 Oct 2024	640
25	Molecular Mechanisms of Apoptosis and Roles in Cancer Development and Treatment Samira Goldar, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan et al. · Asian Pacific Journal of Cancer Prevention Open access	3 Apr 2015	622
26	Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database Pål Møller et al. · Gut Open access	28 Jul 2017	589
27	Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease Kumar Sharma et al. · Journal of the American Society of Nephrology Open access	16 Aug 2013	582
28	Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database Pål Møller et al. · Gut Open access	9 Dec 2015	560
29	Premature Aging in Mice Deficient in DNA Repair and Transcription Jan de Boer, Jaan‐Olle Andressoo, Jan de Wit et al. · Science	17 May 2002	549
30	DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis Bettina Lorenz‐Depiereux, Murat Bastepe, Anna Benet‐Pagès et al. · Nature Genetics Open access	8 Oct 2006	529
31	Eteplirsen in the treatment of Duchenne muscular dystrophy Kenji Rowel Q. Lim, Rika Maruyama, Toshifumi Yokota · Drug Design Development and Therapy Open access	Feb 2017	503
32	Low-dose exposure to bisphenol A and replacement bisphenol S induces precocious hypothalamic neurogenesis in embryonic zebrafish Cassandra D. Kinch, Kingsley Ibhazehiebo, Joo-Hyun Jeong et al. · Proceedings of the National Academy of Sciences Open access	12 Jan 2015	485
33	Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome Alexander A. Zimprich, Monika Grabowski, Friedrich Asmus et al. · Nature Genetics	27 Aug 2001	485
34	Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database on behalf of InSiGHT et al. · Nature Genetics Open access	22 Dec 2013	484
35	A phosphatase complex that dephosphorylates γH2AX regulates DNA damage checkpoint recovery Michael‐Christopher Keogh, Jung‐Ae Kim, Michael Downey et al. · Nature	20 Nov 2005	480
36	Lipid transfer from plants to arbuscular mycorrhiza fungi Andreas Keymer, Priya Pimprikar, Vera Wewer et al. · eLife Open access	20 Jul 2017	474
37	Multi-system neurological disease is common in patients with OPA1 mutations Patrick Yu‐Wai‐Man et al. · Brain Open access	15 Feb 2010	453
38	Predictive DNA Testing and Prophylactic Thyroidectomy in Patients at Risk for Multiple Endocrine Neoplasia Type 2A Samuel A. Wells, David D. Chi, Koji Toshima et al. · Annals of Surgery Open access	Sep 1994	447
39	Adenovirus Binding to Blood Factors Results in Liver Cell Infection and Hepatotoxicity Dmitry M. Shayakhmetov, Anuj Gaggar, Shaoheng Ni et al. · Journal of Virology Open access	26 May 2005	429
40	Vascular abnormalities in patients with neurofibromatosis syndrome type I: Clinical spectrum, management, and results Gustavo S. Oderich, Timothy Michael Sullivan, Thomas C. Bower et al. · Journal of Vascular Surgery Open access	Aug 2007	394
41	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease Dermot P.B. McGovern et al. · Human Molecular Genetics Open access	22 Jun 2010	393
42	The Homeodomain Factor Lbx1 Distinguishes Two Major Programs of Neuronal Differentiation in the Dorsal Spinal Cord Thomas H. Müller, Henning Brohmann, Alessandra Pierani et al. · Neuron Open access	May 2002	385
43	The UCSC Genome Browser database: 2024 update Brian J. Raney et al. · Nucleic Acids Research Open access	11 Nov 2023	380
44	Molecular roles and function of circular RNAs in eukaryotic cells Lesca Miriam Holdt, Alexander Kohlmaier, Daniel Teupser · Cellular and Molecular Life Sciences Open access	7 Nov 2017	372
45	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies Robert William Taylor et al. · JAMA Open access	2 Jul 2014	372
46	Identification of a new copper metabolism gene by positional cloning in a purebred dog population Bart van de Sluis · Human Molecular Genetics	2002	366
47	Efficient Gene Transfer into Human CD34 + Cells by a Retargeted Adenovirus Vector Dmitry M. Shayakhmetov, Thalia Papayannopoulou, George Stamatoyannopoulos et al. · Journal of Virology Open access	15 Mar 2000	366
48	CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Aarathi Sugathan, Marta Biagioli, Christelle Golzio et al. · Proceedings of the National Academy of Sciences Open access	7 Oct 2014	362
49	Transcriptional and epigenetic regulation of autophagy in aging Louis R. Lapierre, Caroline Kumsta, Marco Sandri et al. · Autophagy Open access	2 Apr 2015	350
50	The 22q11.2 Deletion in Children Jacob A. S. Vorstman, Monique E.J. Morcus, Sasja N. Duijff et al. · Journal of the American Academy of Child & Adolescent Psychiatry	22 Aug 2006	348

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.