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Institution · Mendelics

Most cited papers from Mendelics

Mendelics

What are the most cited papers from Mendelics?

The most cited paper from Mendelics is "AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders" (Vincenzo Salpietro et al., 2019), with 258 citations. Next come "HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond" (140) and "Building the sugarcane genome for biotechnology and identifying evolutionary trends" (140).

Showing 50 of 61 papers. Every paper with more than 9 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro et al. · Nature Communications Open access239 authors 12 Jul 2019 258
2 HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Carla Marini et al. · Brain Open access 26 Sep 2018 140
3 Building the sugarcane genome for biotechnology and identifying evolutionary trends Nathalia de Setta et al. · BMC Genomics Open access 30 Jun 2014 140
4 Complete Genome Sequence of Sporisorium scitamineum and Biotrophic Interaction Transcriptome with Sugarcane Lucas Mitsuo Taniguti, Patrícia Dayane Carvalho Schaker, Juliana Benevenuto et al. · PLoS ONE Open access 12 Jun 2015 126
5 A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) Natássia M. Vieira, Michel Satya Naslavsky, Luciana Licínio et al. · Human Molecular Genetics 18 Mar 2014 124
6 Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita Gianina Ravenscroft et al. · The American Journal of Human Genetics Open access 21 May 2015 122
7 Paralog Studies Augment Gene Discovery: DDX and DHX Genes Ingrid S. Paine et al. · The American Journal of Human Genetics Open access 27 Jun 2019 119
8 Genomic epidemiology of the SARS-CoV-2 epidemic in Brazil Marta Giovanetti et al. · Nature Microbiology Open access106 authors 18 Aug 2022 113
9 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria et al. · The American Journal of Human Genetics Open access387 authors 9 May 2019 101
10 SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Francesca Clementina Radio et al. · The American Journal of Human Genetics Open access114 authors 16 Feb 2021 93
11 Detection of germline variants in Brazilian breast cancer patients using multigene panel testing Rodrigo Santa Cruz Guindalini, Danilo Vilela Viana, João Paulo Kitajima et al. · Scientific Reports Open access 9 Mar 2022 81
12 De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Konrad Platzer et al. · The American Journal of Human Genetics Open access 3 Jan 2019 80
13 RNAseq Transcriptional Profiling following Whip Development in Sugarcane Smut Disease Patrícia Dayane Carvalho Schaker, A. Palhares, Lucas Mitsuo Taniguti et al. · PLoS ONE Open access Sep 2016 79
14 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Epi25 Collaborative et al. · Nature Neuroscience Open access337 authors Oct 2024 64
15 Early role for a Na + ,K + -ATPase ( ATP1A3 ) in brain development Richard Scott Smith, Marta Florio, Shyam K. Akula et al. · Proceedings of the National Academy of Sciences Open access 14 Jun 2021 62
16 Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Joery den Hoed et al. · The American Journal of Human Genetics Open access 28 Jan 2021 58
17 A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant Tauana Bernardes Leoni, Carelis González‐Salazar, Thiago Junqueira Ribeiro de Rezende et al. · Annals of Neurology 28 May 2021 48
18 One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia Agessandro Abrahão, Osório Lopes Abath Neto, Fernando Kok et al. · Journal of the Neurological Sciences 22 Jul 2016 47
19 Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome Uirá Souto Melo, Lúcia Inês Macedo‐Souza, Thalita Figueiredo et al. · Human Molecular Genetics Open access 18 Sep 2015 45
20 Nucleocapsid (N) Gene Mutations of SARS-CoV-2 Can Affect Real-Time RT-PCR Diagnostic and Impact False-Negative Results Jéssika Cristina Chagas Lesbon et al. · Viruses Open access 10 Dec 2021 44
21 Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction Leslie E. W. LaConte, Vrushali Chavan, Abdallah F. Elias et al. · Human Genetics Open access 9 Feb 2018 44
22 Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus Matias Wagner et al. · Genetics in Medicine Open access 25 Feb 2020 43
23 Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability Chaofan Zhang et al. · Human Genetics and Genomics Advances Open access 3 Dec 2021 40
24 Genomic monitoring unveil the early detection of the SARS‐CoV‐2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil Svetoslav Nanev Slavov et al. · Journal of Medical Virology Open access 9 Jul 2021 38
25 Expanding the Molecular and Clinical Phenotype of SSR4-CDG Bobby G. Ng, Kimiyo Raymond, Martin Kircher et al. · Human Mutation Open access 12 Aug 2015 38
26 Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications Ashish R. Deshwar et al. · Brain Open access 8 Dec 2022 34
27 GIGYF1 disruption associates with autism and impaired IGF-1R signaling Guodong Chen et al. · Journal of Clinical Investigation Open access 2 Aug 2022 33
28 DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation Lev Prasov et al. · Journal of Medical Genetics Open access 25 Jan 2021 32
29 Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS Flávio Moura Rezende Filho, Michael H. Parkinson, José Luiz Pedroso et al. · Parkinsonism & Related Disorders Open access 23 Dec 2018 32
30 Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family Thalita Figueiredo, Uirá Souto Melo, André Luiz Santos Pessoa et al. · Journal of Medical Genetics 19 Dec 2014 31
31 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations Fabíola Paoli Monteiro, Cynthia J. Curry, Robert F. Hevner et al. · European Journal of Medical Genetics 27 Jan 2019 30
32 Analysis of three sugarcane homo/homeologous regions suggests independent polyploidization events of Saccharum officinarum and Saccharum spontaneum Mariane de Mendonça Vilela, Luiz‐Eduardo Del‐Bem, Marie‐Anne Van Sluys et al. · Genome Biology and Evolution Open access 12 Dec 2016 30
33 A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability Thalita Figueiredo, Uirá Souto Melo, André Luiz Santos Pessoa et al. · Molecular Psychiatry Open access 29 Sep 2015 29
34 Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis Ricardo Moreno Traspas et al. · Nature Genetics Open access 21 Jul 2022 28
35 Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa et al. · Scientific Reports Open access 7 Sep 2022 26
36 Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country Luiz Vicente Ribeiro Ferreira da Silva Filho et al. · Journal of Cystic Fibrosis Open access 18 Aug 2020 24
37 A genome sequence resource for the genus Passiflora , the genome of the wild diploid species Passiflora organensis Zirlane Portugal da Costa, Alessandro M. Varani, Luiz Augusto Cauz‐Santos et al. · The Plant Genome Open access 23 Jul 2021 23
38 Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature Luciana Midori Inuzuka, Lúcia Inês Macedo‐Souza, Bruno Della‐Ripa et al. · Brain and Development 2 Nov 2019 21
39 Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls María Helena Vaisbich, Andressa Araújo Braga, Maria Gabrielle et al. · Pediatric Nephrology 16 Feb 2017 21
40 Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy Francesca Magrinelli et al. · Movement Disorders Clinical Practice Open access 17 Dec 2021 20
41 A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58 Karina Lezirovitz et al. · Human Molecular Genetics Open access 22 Apr 2020 20
42 Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment Luiza Lorena Pires Ramos, Fabíola Paoli Monteiro, Leticia P. B Sampaio et al. · Clinical Case Reports Open access 11 Jul 2019 20
43 Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia Clecio de Oliveira Godeiro-Junior, Thiago Cardoso Vale, Cintia Oliveira de Melo Afonso et al. · Movement Disorders Clinical Practice Open access 15 Mar 2018 20
44 Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations Évelin Aline Zanardo, Fabíola Paoli Monteiro, Samar Nasser Chehimi et al. · Journal of Molecular Diagnostics Open access Jun 2020 19
45 MECP2-related conditions in males: A systematic literature review and 8 additional cases Luciana Midori Inuzuka, Matheus Guerra-Peixe, Lúcia Inês Macedo‐Souza et al. · European Journal of Paediatric Neurology Review 21 Jun 2021 18
46 ATP6V1B2‐related epileptic encephalopathy Luciana Midori Inuzuka, Lúcia Inês Macedo‐Souza, Bruno Della‐Rippa et al. · Epileptic Disorders Open access Jun 2020 17
47 Complete Genome Sequence of Leifsonia xyli subsp. cynodontis Strain DSM46306, a Gram-Positive Bacterial Pathogen of Grasses Cláudia Barros Monteiro-Vitorello, Marcelo M. Zerillo, Marie‐Anne Van Sluys et al. · Genome Announcements Open access 8 Nov 2013 17
48 SARS-CoV-2 Delta variant of concern in Brazil - multiple introductions, communitary transmission, and early signs of local evolution José Salvatore Leister Patané et al. · medRxiv PreprintOpen access 22 Sep 2021 15
49 Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati et al. · Molecular Genetics and Metabolism Open access 22 Jun 2023 14
50 Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) : Insights into Disease Pathogenesis and Biomarkers Flávio Moura Rezende Filho, Fion Bremner, José Luiz Pedroso et al. · Movement Disorders 23 Apr 2021 14

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.