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Mendelics | Researchclopedia

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Mendelics

São Paulofacility

153

Works

6,144

Citations

43

h-index

Top Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Mitochondrial Function and Pathology

Top Researchers

Boris Keren Université de Pau et des Pays de l'Adour

378 works13,469 citationsh-index: 60

Recent Research

Expanding the Phenotype of Biallelic <i>PIGG</i> Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability

Pedro Henrique Marte de Arruda Sampaio,Cristiane Araújo Martins Moreno,et al.

20260 citations

Genomic variations and chromosomal abnormalities

SARS-CoV-2 and COVID-19 Research

RNA regulation and disease

RNA modifications and cancer

Congenital heart defects research

Cellular transport and secretion

Genetic Neurodegenerative Diseases

RNA Research and Splicing

Metabolism and Genetic Disorders

Fernando Kok Universidade de São Paulo

359 works8,224 citationsh-index: 47

David Schlesinger Institute of Human Genetics

265 works6,796 citationsh-index: 42

João Paulo Kitajima University of Cape Verde

98 works6,667 citationsh-index: 30

Adi Vaknin‐Dembinsky Hebrew University of Jerusalem

118 works4,205 citationsh-index: 30

Juliana de Assis Silva Gomes Universidade Federal de Minas Gerais

97 works2,719 citationsh-index: 30

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders

Rodrigo L. Borges,Gretter González-Blanco,et al.

20260 citations

P505: Insights from iHope: The impact of test selection and ordering clinician on diagnostic yield

Erin Thorpe Venti,Milagros Dueñas,et al.

20260 citations

A Novel Variant in the <i>TAMM41</i> ‐Associated Mitochondrial Myopathy

Cristiane Araujo Martins Moreno,Clara Camelo Gontijo,et al.

20250 citations

High frequency of ABCB4 and ABCB11 gene variants in adult patients with idiopathic chronic or recurrent cholestasis

Paulo Lisboa Bittencourt,Vivian Rotman,et al.

20251 citations

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Ariane Kröll‐Hermi,Corinne Stoetzel,et al.

20250 citations