Amber Begtrup

2.8k total citations
14 papers, 255 citations indexed

About

Amber Begtrup is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Amber Begtrup has authored 14 papers receiving a total of 255 indexed citations (citations by other indexed papers that have themselves been cited), including 9 papers in Genetics, 7 papers in Molecular Biology and 2 papers in Genetics. Recurrent topics in Amber Begtrup's work include Genetics and Neurodevelopmental Disorders (6 papers), Blood properties and coagulation (2 papers) and Genomics and Rare Diseases (2 papers). Amber Begtrup is often cited by papers focused on Genetics and Neurodevelopmental Disorders (6 papers), Blood properties and coagulation (2 papers) and Genomics and Rare Diseases (2 papers). Amber Begtrup collaborates with scholars based in United States, Netherlands and France. Amber Begtrup's co-authors include Francisca Millan, Kyle Retterer, Janine Altmüller, Michael Müller, Rhonda E. Schnur, Peter Huppke, Hölger Thiele, Peter Nürnberg, Jutta Gärtner and Annika Wolf and has published in prestigious journals such as Nature Communications, Blood and The American Journal of Human Genetics.

In The Last Decade

Amber Begtrup

13 papers receiving 250 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Amber Begtrup United States	9	153	104	25	21	21	14	255
Roberto Oleari Italy	12	144 0.9×	76 0.7×	15 0.6×	7 0.3×	21 1.0×	22	309
Patricia Lopes Pereira France	11	195 1.3×	180 1.7×	10 0.4×	24 1.1×	21 1.0×	13	428
Tuva Barøy Norway	12	221 1.4×	161 1.5×	10 0.4×	13 0.6×	12 0.6×	21	333
Neïla Belguith Tunisia	9	150 1.0×	123 1.2×	9 0.4×	10 0.5×	15 0.7×	34	226
Antonella Lettieri Italy	12	165 1.1×	75 0.7×	18 0.7×	7 0.3×	18 0.9×	23	345
Anne‐Marie Guerrot France	8	136 0.9×	84 0.8×	14 0.6×	6 0.3×	8 0.4×	17	204
Christian B. Woods United States	6	361 2.4×	68 0.7×	19 0.8×	20 1.0×	72 3.4×	8	456
Renee Sears United States	6	273 1.8×	83 0.8×	16 0.6×	12 0.6×	31 1.5×	8	378
Ana Quaglino Argentina	9	195 1.3×	63 0.6×	17 0.7×	7 0.3×	56 2.7×	9	364
Saeed Al-Turki United Kingdom	4	114 0.7×	102 1.0×	8 0.3×	8 0.4×	31 1.5×	7	250

Countries citing papers authored by Amber Begtrup

Since Specialization

Citations

This map shows the geographic impact of Amber Begtrup'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 Amber Begtrup with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Amber Begtrup more than expected).

Fields of papers citing papers by Amber Begtrup

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Amber Begtrup. 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 Amber Begtrup. The network helps show where Amber Begtrup may publish in the future.

Co-authorship network of co-authors of Amber Begtrup

This figure shows the co-authorship network connecting the top 25 collaborators of Amber Begtrup. A scholar is included among the top collaborators of Amber Begtrup 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 Amber Begtrup. Amber Begtrup is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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14 of 14 papers shown

Mullegama, Sureni V., Amber Begtrup, Amy Crunk, et al.. (2025). A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype. Human Genetics and Genomics Advances. 6(2). 100417–100417.

Hankey, William, Shannon McNulty, Xiao Peng, et al.. (2023). CTLA4 variant curation using adapted ACMG/AMP guidelines. Clinical Immunology. 250. 109425–109425. 1 indexed citations

Bayat, Allan, Manuela Pendziwiat, Ewa Obersztyn, et al.. (2021). Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures. Frontiers in Genetics. 12. 663643–663643. 7 indexed citations

Almass, Rawan, Anoud Albader, Peter Karachunski, et al.. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica. 139(4). 791–794. 15 indexed citations

Costantini, Alice, Helena Valta, Nissan Baratang, et al.. (2018). Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”. Bone. 121. 163–171. 12 indexed citations

Edvardson, Simon, Claudia M. Nicolae, Pankaj B. Agrawal, et al.. (2017). Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. The American Journal of Human Genetics. 101(2). 267–273. 34 indexed citations

Huppke, Peter, Susann Weißbach, Joseph A. Church, et al.. (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nature Communications. 8(1). 818–818. 64 indexed citations

Powis, Zöe, Igor D. Petrik, Julie S. Cohen, et al.. (2017). De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Clinical Genetics. 93(5). 1030–1038. 12 indexed citations

Beck, David B., Megan T. Cho, Francisca Millan, et al.. (2016). A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 17(3). 173–178. 25 indexed citations

10.

Boyle, Lia, Mirjam M. C. Wamelink, Gajja S. Salomons, et al.. (2016). Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. The American Journal of Human Genetics. 98(6). 1235–1242. 33 indexed citations

11.

Retterer, Kyle, Francisca Millan, C. Nowak, et al.. (2016). De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clinical Genetics. 91(5). 756–763. 22 indexed citations

12.

Chonat, Satheesh, Mary Risinger, Neha Dagaonkar, et al.. (2015). The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis. Blood. 126(23). 941–941. 2 indexed citations

13.

Wink, Logan, Sarah E. Fitzpatrick, Rebecca C. Shaffer, et al.. (2015). The neurobehavioral and molecular phenotype of Angelman Syndrome. American Journal of Medical Genetics Part A. 167(11). 2623–2628. 27 indexed citations

14.

Risinger, Mary, Edyta Glogowska, Amber Begtrup, et al.. (2014). The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype. Blood. 124(21). 741–741. 1 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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