Concepedia

Maryam Najafi

MN

Statistics

Publications

20

Citations

580

H-Index

16

Active since

1997

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

University Medical Center Freiburg

Sabzevar University of Medical Sciences

St George's, University of London

Maryam Najafi is an author at Radboud University Medical Center specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

1997–2023

20

Publications

20

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan et al. · Brain · 2019 · 69 citations · Full text

, , +17

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng et al. · The American Journal of Human Genetics · 2019 · 58 citations · Full text

, , +17

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob et al. · Brain · 2021 · 52 citations · Full text

, , +17

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 51 citations · Full text

, , +13

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Güney Bademci, Clemer Abad, Armağan İncesulu et al. · Human Genetics · 2018 · 41 citations · Full text

, , +10

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