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Louise Bier · SciRah

Researcher profile · Semantic Scholar

Louise Bier

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Louise Bier — researcher profile on SciRah

h-index: 18
Works: 38
Citations: 1,834

Most-cited papers

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
S. Petrovski, V. Aggarwal, J. Giordano, M. Stosic +18 more
2019The Lancet543 citations
Semantic Scholar
Comparison of Parkinson risk in Ashkenazi Jewish Gaucher patients and GBA heterozygotes
R. Alcalay, T. Dinur, T. Quinn, Karina Sakanaka +12 more
2014JAMA Neurology205 citations Open access
Semantic Scholar
Genetic testing for the epilepsies: A systematic review
B. Sheidley, Jennifer R. Malinowski, A. Bergner, Louise Bier +5 more
2021Epilepsia157 citations
Semantic Scholar
Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling
H. Rana, M. Balwani, Louise Bier, R. Alcalay
2012Genetics in Medicine115 citations Open access
Semantic Scholar
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
S. Petrovski, S. Küry, Candace T. Myers, K. Anyane-Yeboa +42 more
2016American Journal of Human Genetics114 citations Open access
Semantic Scholar
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
M. Cousin, Blake A. Creighton, Keith A. Breau, R. Spillmann +70 more
2021Nature Genetics94 citations Open access
Semantic Scholar
Non-indigenous grasses impede woody succession
M. Davis, Louise Bier, Ethan Bushelle, Chloe Diegel +2 more
2005Plant Ecology87 citations
Semantic Scholar
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
H. Rasouly, E. Groopman, Reuben Heyman-Kantor, D. Fasel +11 more
2018Annals of Internal Medicine71 citations
Semantic Scholar
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
S. Berkovic, D. Goldstein, E. Heinzen, Brandon Laughlin +58 more
2019Epilepsia59 citations Open access
Semantic Scholar
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P. Hemati, Anya Revah-Politi, H. Bassan, S. Petrovski +48 more
2018American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
NBEA: developmental disease gene with early generalized epilepsy phenotypes
Maureen S. Mulhern, C. Stumpel, N. Stong, Han G. Brunner +47 more
2018Annals of Neurology53 citations Open access
Semantic Scholar
Cerebral Palsy Genetics: Who to Test?
Halie J. May, Jennifer A Fasheun, J. Bain, E. Baugh +5 more
2021Developmental Medicine & Child Neurology44 citations Open access
Semantic Scholar
CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity
M. Ernst, E. Baugh, Amanda L Thomas, Louise Bier +53 more
2021Epilepsia30 citations Open access
Semantic Scholar
8: Whole exome sequencing in the evaluation of fetal structural anomalies: A prospective study of sequential patients
R. Wapner, S. Petrovski, Kelly Brennan, Louise Bier +2 more
201725 citations Open access
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series
Anya Revah-Politi, M. Ganapathi, Louise Bier, M. Cho +9 more
2017American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
Amy C. Yang, Louise Bier, J. Overbey, J. Cohen-Pfeffer +3 more
2016Genetics in Medicine22 citations Open access
Semantic Scholar
Patients’ opinions on genetic counseling on the increased risk of Parkinson disease among Gaucher disease carriers
Maureen S. Mulhern, Louise Bier, R. Alcalay, M. Balwani
2017Journal of Genetic Counseling18 citations Open access
Semantic Scholar
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, J. Cohen +23 more
2021Genetics in Medicine17 citations Open access
Semantic Scholar
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
Hila Milo Rasouly, J. Wynn, M. Marasà, R. Reingold +34 more
2019Genetics in Medicine17 citations Open access
Semantic Scholar
Elective genomic testing: Practice resource of the National Society of Genetic Counselors
Carrie L. Blout Zawatsky, D. Bick, Louise Bier, B. Funke +7 more
2023Journal of Genetic Counseling16 citations Open access
Semantic Scholar
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient
Hila Milo Rasouly, V. Aggarwal, Louise Bier, D. Goldstein +1 more
2021Annals of Internal Medicine11 citations
Semantic Scholar
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Bree E Martin, Tristan T. Sands, Louise Bier, Amanda L. Bergner +2 more
2024Journal of Medical Genetics10 citations
Semantic Scholar
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
F. Miceli, L. Carotenuto, V. Barrese, M. V. Soldovieri +9 more
2020Frontiers in Physiology10 citations Open access
Semantic Scholar
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
N. Lippa, Louise Bier, Anya Revah-Politi, Halie J. May +10 more
2022Genetics in Medicine7 citations Open access
Semantic Scholar
Returning value to the community through the All of Us Research Program Data Sandbox model
Elizabeth Cohn, F. E. Kleiman, S. Muhammad, S. S. Jones +2 more
2024J. Am. Medical Informatics Assoc.6 citations Open access
Semantic Scholar
Clinical trial design essentials for genetic counselors
Cynthia A James, Jessica R. Overbey, Louise Bier, Colleen Caleshu +3 more
2025Journal of Genetic Counseling2 citations
Semantic Scholar
P524: Perspectives on the role of genetic counseling-trained professionals in the use of genetic therapies
Jessa S. Bidwell, Mia Tomeo, Rebecca Mueller, S. Aufox +1 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort
Anya Revah-Politi, Sulagna Kushary, N. Vena, Halie J. May +9 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Whole exome sequencing across clinical specialties within a medical center
N. Lippa, Louise Bier, Anya Revah-Politi, Sulagna Kushary +16 more
20210 citations
Semantic Scholar
The Epilepsy Genetics Initiative: a final summary
Sulagna Kushary, Louise Bier, N. Lippa, Anya Revah-Politi +13 more
20210 citations
Semantic Scholar
Gaucher Disease Survey
Maureen S. Mulhern, Louise Bier, R. Alcalay, M. Balwani
20200 citations
Semantic Scholar
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
H. Rasouly, J. Wynn, M. Marasà, R. Reingold +34 more
2019Genetics in Medicine0 citations Open access
Semantic Scholar
Table of Contents, Volume 176A, Number 11, November 2018
Janet M. Legare, P. Modaff, S. Strom, Richard M. Pauli +54 more
2018American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
Parkinson Risk in Ashkenazi Jewish Gaucher Patients and GBA Heterozygotes: Is There a Gene Dose Effect? (P1.015)
R. Alcalay, T. Dinur, T. Quinn, Karina Sakanaka +12 more
2014Neurology0 citations
Semantic Scholar
Parkinson disease penetrance in patients with Gaucher disease and in glucocerebrosidase mutation carriers
T. Dinur, T. Quinn, Karina Sakanaka, O. Levy +12 more
20140 citations Open access
Semantic Scholar
Monitoring of Gaucher disease type 1 in presymptomatic pediatric patients
Louise Bier, Amy C. Yang, Khyati Desai, J. Cohen-Pfeffer +2 more
20140 citations
Semantic Scholar
An Amateur's New Observatory (Roelof Weertman)
Louise Bier
19420 citations
Semantic Scholar

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