Desiree Smith
Vrije Universiteit Amsterdam
H-index: 29
Europe-Netherlands
Top articles of Desiree Smith
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
5, 10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings | JIMD Reports | Lelde Liepina Desiree EC Smith Hidde Huidekoper Shimriet Zeidler Mirjam Wamelink | 2024 |
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia | Clinical Genetics | Jiddeke M van de Kamp Arend Bökenkamp Desiree EC Smith Mirjam MC Wamelink Erwin EW Jansen | 2023/1 |
SLC26A1 is a major determinant of sulfate homeostasis in humans | The Journal of Clinical Investigation | Anja Pfau Karen I López-Cayuqueo Nora Scherer Matthias Wuttke Annekatrin Wernstedt | 2023/2/1 |
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene | Blood Advances | Taco W Kuijpers Andrica CH de Vries Ester M van Leeuwen A(Ton) AM Ermens Saskia de Pont | 2022/11/22 |
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly | Human mutation | Nina Bögershausen Hannah E Krawczyk Rami A Jamra Sheng‐Jia Lin Gökhan Yigit | 2022/10 |
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (vol 11, 4038, 2020) | NATURE COMMUNICATIONS | Lu Wang Zhen Li David Sievert Desiree EC Smith Marisa I Mendes | 2021/2/15 |
Treatment of ARS deficiencies with specific amino acids | Genetics in Medicine | Gautam Kok Laura Tseng Imre F Schene Monique E Dijsselhof Gajja Salomons | 2021/11 |
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy | Human Molecular Genetics | Elena Botta Arjan F Theil Anja Raams Giuseppina Caligiuri Sarah Giachetti | 2021/9/15 |
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs! | Clinical genetics | Luise A Schuch Maria Forstner Christina K Rapp Yang Li Desiree EC Smith | 2021/6 |
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Clinical genetics | Elisabetta Tabolacci Clelia Molinario Giuseppe Marangi Veronica Nobile Vincenzo Arena | 2021/4 |
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever | Human mutation | Jean‐Marie Ravel Natacha Dreumont Pauline Mosca Desiree EC Smith Marisa I Mendes | 2021/12 |
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly | Nature Communications | Lu Wang Zhen Li David Sievert Desirée EC Smith Marisa I Mendes | 2021/2/15 |
Expanded phenotype of AARS1-related white matter disease | Genetics in Medicine | Guy Helman Marisa I Mendes Francesco Nicita Lama Darbelli Omar Sherbini | 2021/12 |
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects | The American Journal of Human Genetics | Andreea Manole Stephanie Efthymiou Emer O’Connor Marisa I Mendes Matthew Jennings | 2020/8/6 |
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency | Molecular genetics and metabolism | Ana Pop Desirée EC Smith Trevor Kirby Dana Walters K Michael Gibson | 2020/7/1 |
The evaluation of red blood cell folate and methotrexate levels during protocol M in childhood acute lymphoblastic leukemia | BMC cancer | N Oosterom Marta Fiocco RQH Kloos IM Van Der Sluis Rob Pieters | 2020/12 |
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum | Annals of clinical and translational neurology | Marisa I Mendes Lydia MC Green Enrico Bertini Davide Tonduti Chiara Aiello | 2020/1 |
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency | Molecular genetics and metabolism reports | Lara M Marten Florian Brinkert Desirée EC Smith Holger Prokisch Maja Hempel | 2020/12/1 |
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 | Genetics in Medicine | Dominic Lenz Desirée EC Smith Ellen Crushell Ralf A Husain Gajja S Salomons | 2020/11/1 |
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants | Pediatric pulmonology | Dominic Lenz Mirjam Stahl Elias Seidl Dominik Schöndorf Heiko Brennenstuhl | 2020/11 |
