Louise Bier

2.2k total citations
16 papers, 485 citations indexed

About

Louise Bier is a scholar working on Genetics, Physiology and Organic Chemistry. According to data from OpenAlex, Louise Bier has authored 16 papers receiving a total of 485 indexed citations (citations by other indexed papers that have themselves been cited), including 7 papers in Genetics, 5 papers in Physiology and 4 papers in Organic Chemistry. Recurrent topics in Louise Bier's work include Genomics and Rare Diseases (7 papers), Lysosomal Storage Disorders Research (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Louise Bier is often cited by papers focused on Genomics and Rare Diseases (7 papers), Lysosomal Storage Disorders Research (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Louise Bier collaborates with scholars based in United States, Canada and South Africa. Louise Bier's co-authors include Manisha Balwani, Roy N. Alcalay, Huma Q. Rana, David B. Goldstein, Wendy K. Chung, Stanley Fahn, Deborah Elstein, Michael W. Pauciulo, William C. Nichols and Cheryl Waters and has published in prestigious journals such as Annals of Internal Medicine, American Journal of Obstetrics and Gynecology and Epilepsia.

In The Last Decade

Louise Bier

15 papers receiving 466 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Louise Bier United States	9	222	161	152	139	90	16	485
Hernán Amartino Argentina	15	400 1.8×	31 0.2×	103 0.7×	67 0.5×	102 1.1×	47	596
Takahito Inoue Japan	12	211 1.0×	32 0.2×	124 0.8×	38 0.3×	185 2.1×	30	604
Mar O’Callaghan Spain	12	125 0.6×	52 0.3×	98 0.6×	43 0.3×	273 3.0×	26	489
Giulia Massaro United Kingdom	10	163 0.7×	37 0.2×	86 0.6×	80 0.6×	189 2.1×	17	391
Luis González Gutiérrez-Solana Spain	12	194 0.9×	30 0.2×	54 0.4×	42 0.3×	155 1.7×	59	458
M. Sévin France	4	221 1.0×	59 0.4×	53 0.3×	27 0.2×	72 0.8×	9	366
Vĕra Malinová Czechia	15	400 1.8×	23 0.1×	26 0.2×	84 0.6×	126 1.4×	24	573
P. Santavuori Finland	11	329 1.5×	28 0.2×	48 0.3×	126 0.9×	243 2.7×	11	551
Anne Roubergue France	9	120 0.5×	41 0.3×	55 0.4×	48 0.3×	125 1.4×	18	291
Johanna M. P. van den Hout Netherlands	12	634 2.9×	47 0.3×	63 0.4×	61 0.4×	144 1.6×	31	729

Countries citing papers authored by Louise Bier

Since Specialization

Citations

This map shows the geographic impact of Louise Bier's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Louise Bier with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Louise Bier more than expected).

Fields of papers citing papers by Louise Bier

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Louise Bier. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Louise Bier. The network helps show where Louise Bier may publish in the future.

Co-authorship network of co-authors of Louise Bier

This figure shows the co-authorship network connecting the top 25 collaborators of Louise Bier. A scholar is included among the top collaborators of Louise Bier based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Louise Bier. Louise Bier is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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16 of 16 papers shown

Simpson, William, Andrew Ting, Louise Bier, et al.. (2025). Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study. Molecular Genetics and Metabolism Reports. 43. 101210–101210.

Sands, Tristan T., et al.. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics. 61(7). 645–651. 3 indexed citations

Cohn, Elizabeth, et al.. (2024). Returning value to the community through the All of Us Research Program Data Sandbox model. Journal of the American Medical Informatics Association. 31(12). 2980–2984. 2 indexed citations

Zawatsky, Carrie L. Blout, David Bick, Louise Bier, et al.. (2023). Elective genomic testing: Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling. 32(2). 281–299. 8 indexed citations

Lippa, Natalie, Louise Bier, Anya Revah‐Politi, et al.. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine. 24(4). 862–869. 3 indexed citations

Sheidley, Beth Rosen, Jennifer Malinowski, Amanda L. Bergner, et al.. (2021). Genetic testing for the epilepsies: A systematic review. Epilepsia. 63(2). 375–387. 67 indexed citations

Rasouly, Hila Milo, Vimla S. Aggarwal, Louise Bier, David B. Goldstein, & Ali G. Gharavi. (2021). Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient. Annals of Internal Medicine. 174(4). 540–547. 4 indexed citations

Bain, Jennifer, Evan H. Baugh, Louise Bier, et al.. (2021). Genetic testing in individuals with cerebral palsy. Developmental Medicine & Child Neurology. 63(12). 1448–1455. 25 indexed citations

Miceli, Francesco, Vincenzo Barrese, Maria Virginia Soldovieri, et al.. (2020). 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. Frontiers in Physiology. 11. 1040–1040. 7 indexed citations

10.

Rasouly, Hila Milo, Emily Groopman, David Fasel, et al.. (2018). The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Annals of Internal Medicine. 170(1). 11–21. 46 indexed citations

11.

Mulhern, Maureen, Louise Bier, Roy N. Alcalay, & Manisha Balwani. (2017). Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. Journal of Genetic Counseling. 27(3). 675–680. 15 indexed citations

12.

Revah‐Politi, Anya, Mythily Ganapathi, Louise Bier, et al.. (2017). Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series. American Journal of Medical Genetics Part A. 173(12). 3158–3164. 28 indexed citations

13.

Yang, Amy, Louise Bier, Jessica Overbey, et al.. (2016). Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. Genetics in Medicine. 19(6). 652–658. 17 indexed citations

14.

Wapner, Ronald J., et al.. (2016). 8: Whole exome sequencing in the evaluation of fetal structural anomalies: A prospective study of sequential patients. American Journal of Obstetrics and Gynecology. 216(1). S5–S6. 18 indexed citations

15.

Alcalay, Roy N., Tama Dinur, Timothy J. Quinn, et al.. (2014). Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes. JAMA Neurology. 71(6). 752–752. 160 indexed citations

16.

Rana, Huma Q., Manisha Balwani, Louise Bier, & Roy N. Alcalay. (2012). Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genetics in Medicine. 15(2). 146–149. 82 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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