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Rachel A. Fisher

Observed names: Fisher, Rachel, R. Fisher, Rachel Fisher
ORCID: 0009-0007-7606-1597
Observed ORCID: 0009-0007-7606-1597
OpenAlex ID: A5111843673
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
2020 · Anaïs Begemann, Heinrich Sticht, et al. · Genetics in Medicine · 60
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
2020 · Lisenka E.L.M. Vissers, Sreehari Kalvakuri, et al. · The American Journal of Human Genetics · 56
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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
2020 · Dawn S. Peck, Jean M. Lacey, et al. · International Journal of Neonatal Screening · 45
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Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
2019 · Mark N. Ziats, Ayesha Ahmad, et al. · Pediatric Research · 45
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Bovine Pancreatic Ribonuclease‐Spectrophotometric Investigations of the Interaction of the Enzyme with Nucleotides
1968 · A. Deavin, R. Fisher, et al. · European Journal of Biochemistry · 24
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
2020 · Elizabeth G. Ames, Rachel Fisher, et al. · International Journal of Neonatal Screening · 17
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Infantile onset Pompe disease presenting with non-immune hydrops fetalis
2019 · Kristen Lee, Rachel Fisher, et al. · Molecular Genetics and Metabolism Reports · 2
Do maternal serum ferritin levels in combination with alpha fetoprotein levels help to predict idiopathic preterm delivery and/or preterm delivery by cesarean section?
1997 · C. Holzman, R. Katnik, et al. · American Journal of Obstetrics and Gynecology · 2
Evidence supporting the role of GIGYF2 in synapse development and autism
2026 · Bin Yu, Shimeng Zhu, et al. · Molecular Psychiatry · 1
Phenotype variability in six new patients with beta-mannosidosis
2026 · Madelyn Olivas, Candela Romano, et al. · Molecular Genetics and Metabolism
Pompe and circumstance: A newborn screening diagnostic dilemma on a deadline
2026 · Kiri Sunde, Shane Reeves, et al. · Molecular Genetics and Metabolism
P045: Hunting for pseudodeficiency: A new MPS II pseudodeficiency allele?
2026 · Amanda Pritchard, Rachel Fisher · Genetics in Medicine Open
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Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele
2025 · Christopher Connolly, Rachel Fisher, et al. · International Journal of Neonatal Screening
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Challenges in the diagnosis of mucopolysaccharidosis type IVA
2025 · Marzia Pasquali, Yalda Saffary, et al. · Molecular Genetics and Metabolism
Seriously different versions of mucopolysaccharidosis type VII
2023 · Rachel Fisher, Ayesha Ahmad, et al. · Molecular Genetics and Metabolism
Second tier testing for newborn screening: The Michigan experience
2020 · Rachel Fisher, Shane Quinonez, et al. · Molecular Genetics and Metabolism
Prenatal diagnosis of non-infantile Sandhoff disease
2020 · Rachel Fisher, Elizabeth Ames, et al. · Molecular Genetics and Metabolism
Works count: 19
Citation count: 252
H-index: 6
I10-index: 6
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