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Stefanie Perrier

Stefanie Perrier

McGill University

H-index: 5

North America-Canada

Contact Stefanie Perrier

About Stefanie Perrier

Stefanie Perrier, With an exceptional h-index of 5 and a recent h-index of 5 (since 2020), a distinguished researcher at McGill University, specializes in the field of neuroscience, genetics, neurology, white matter.

His recent articles reflect a diverse array of research interests and contributions to the field:

Pdgfrα-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivo (S2. 004)

Solving inherited white matter disorder etiologies in the neurology clinic: challenges and lessons learned using next-generation sequencing

Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRΑ-dependent POLR3B exon-loss genetic model

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review …

Protection from radiation-induced neuroanatomic deficits by CCL2 deficiency is dependent on sex

Oculodentodigital dysplasia: a cause of hypomyelinating leukodystrophy in adults

Stefanie Perrier Information

University

Position

___

Citations(all)

98

Citations(since 2020)

95

Cited By

21

hIndex(all)

5

hIndex(since 2020)

5

i10Index(all)

4

i10Index(since 2020)

4

Email

University Profile Page

Google Scholar

Stefanie Perrier Skills & Research Interests

neuroscience

genetics

neurology

white matter

Top articles of Stefanie Perrier

Pdgfrα-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivo (S2. 004)

2023/4/25

Vladimir Grouza
Vladimir Grouza

H-Index: 3

Lama Darbelli
Lama Darbelli

H-Index: 5

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Hanwen Liu
Hanwen Liu

H-Index: 1

Timothy Cox
Timothy Cox

H-Index: 29

David Rudko
David Rudko

H-Index: 13

Solving inherited white matter disorder etiologies in the neurology clinic: challenges and lessons learned using next-generation sequencing

Frontiers in Neurology

2023/4/3

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRΑ-dependent POLR3B exon-loss genetic model

Journal of the Neurological Sciences

2023/12/1

Vladimir Grouza
Vladimir Grouza

H-Index: 3

Lama Darbelli
Lama Darbelli

H-Index: 5

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Hanwen Liu
Hanwen Liu

H-Index: 1

Timothy Cox
Timothy Cox

H-Index: 29

Christoph Mueller
Christoph Mueller

H-Index: 30

David Rudko
David Rudko

H-Index: 13

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Brain

2023/12

Vladimir Grouza
Vladimir Grouza

H-Index: 3

Lama Darbelli
Lama Darbelli

H-Index: 5

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Hanwen Liu
Hanwen Liu

H-Index: 1

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

Frontiers in Neurology

2023/10/13

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review …

2023/7/13

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Protection from radiation-induced neuroanatomic deficits by CCL2 deficiency is dependent on sex

International Journal of Radiation Oncology* Biology* Physics

2022/6/1

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Christopher Hammill
Christopher Hammill

H-Index: 4

Oculodentodigital dysplasia: a cause of hypomyelinating leukodystrophy in adults

Neurology

2022/4/19

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

American journal of medical genetics. Part A

2022/2

Stefanie Perrier
Stefanie Perrier

H-Index: 3

POLR3-related leukodystrophy: From exploring novel genetic causes and investigating clinical features to expanding the spectrum of disease

2022

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

The Journal of Clinical Endocrinology & Metabolism

2021/2/1

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Charles Marques Lourenço
Charles Marques Lourenço

H-Index: 42

Elsa Rossignol
Elsa Rossignol

H-Index: 20

Nesrin Senbil
Nesrin Senbil

H-Index: 5

Adeline Vanderver
Adeline Vanderver

H-Index: 10

Constantin Polychronakos
Constantin Polychronakos

H-Index: 34

POLR3-related leukodystrophy: Exploring potential therapeutic approaches

2021/1/28

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Classifying hypomyelination: a critical (white) matter

Child Neurology Open

2020/12/23

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Neurology: Genetics

2020/5/11

Stefanie Perrier
Stefanie Perrier

H-Index: 3

Lama Darbelli
Lama Darbelli

H-Index: 5

Seth Cohen
Seth Cohen

H-Index: 59

See List of Professors in Stefanie Perrier University(McGill University)