Amber Begtrup

3.0k citations

14 papers · 265 · h-index 9

Impact in

Genetics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
Molecular Biology
- Genomics, phytochemicals, and oxidative stress
- RNA modifications and cancer
- Kruppel-like factors research
- Congenital heart defects research

Papers in

Genetics 9
- Genetics and Neurodevelopmental Disorders 6
- Genomics and Rare Diseases 2
- Genetic Syndromes and Imprinting 2
Molecular Biology 7

Co-authors: Francisca Millan (3 shared papers)Megan T. Cho (3 shared papers)Kyle Retterer (3 shared papers)Jutta Gärtner (1 shared paper)Michael Müller (1 shared paper)Annika Wolf (1 shared paper)Joseph A. Church (1 shared paper)Rhonda E. Schnur (1 shared paper)
Journals: Clinical Genetics (2 papers)Blood (2 papers)The American Journal of Human Genetics (2 papers)Nature Communications (1 paper)Bone (1 paper)
Partner nations: United States Germany Netherlands

In The Last Decade

Amber Begtrup

14 papers receiving 260 citations

Peers

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-authors

The 25 scholars most cited alongside Amber Begtrup, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Amber Begtrup Line = papers co-authored together Amber Begtrup links everyone, so they are left out of the graph.

All Works

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14 of 14 papers shown

#	Work
1	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder Nature Communications ·Peter Huppke, Susann Weißbach, Joseph A. Church, Rhonda E. Schnur, Martina Krusen, Steffi Dreha‐Kulaczewski, W. Nikolaus Kühn‐Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner	2017	66
2	Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood The American Journal of Human Genetics ·Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg	2017	35
3	Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects The American Journal of Human Genetics ·Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung	2016	35
4	The neurobehavioral and molecular phenotype of Angelman Syndrome American Journal of Medical Genetics Part A ·Logan Wink, Sarah E. Fitzpatrick, Rebecca C. Shaffer, Sophia Melnyk, Amber Begtrup, Emma Fox, Tori L. Schaefer, Lauren Mathieu-Frasier, Balmiki Ray, Debomoy K. Lahiri, Paul A. Horn, Craig A. Erickson	2015	27
5	A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects Neurogenetics ·David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria R. Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K. Chung	2016	26
6	De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females Clinical Genetics ·Rachel Webster, Megan T. Cho, Kyle Retterer, Francisca Millan, C. Nowak, Jessica Douglas, Ayesha Ahmad, Gerald V. Raymond, Maria R. Johnson, Aurora Pujol, Amber Begtrup, Dianalee McKnight, Orrin Devinsky, Wendy K. Chung	2016	23
7	Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy Acta Neuropathologica ·Mohammed A. AlMuhaizea, Rawan Almass, Aljouhra AlHargan, Anoud Albader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida M. Bertoli‐Avella, Ibrahim H. Kaya, Jumanah Al-Sufayan, Laila AlQuait, Aziza Chedrawi, Stefan T. Arold, Dilek Çolak, Tahsin Stefan Barakat, Namik Kaya	2020	16
8	De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms Clinical Genetics ·Zöe Powis, Igor D. Petrik, Julie S. Cohen, Diana M. Escolar, Jennifer Burton, Conny M.A. van Ravenswaaij‐Arts, Deborah A. Sival, Alexander P.A. Stegmann, Tjitske Kleefstra, Rolph Pfundt, Rashmi Chikarmane, Amber Begtrup, Robert Huether, Sha Tang, Deepali N. Shinde	2017	13
9	Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” Bone ·Alice Costantini, Helena Valta, Nissan Baratang, Patrick Yap, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Chong Ae Kim, Jiani Chen, Klaas J. Wierenga, Elizabeth A. Fanning, Luis A. Escobar, Kirsty McWalter, Heather M. McLaughlin, Rebecca Willaert, Amber Begtrup, Jessica J. Alm, Dieter P. Reinhardt, Outi Mäkitie, Philippe M. Campeau	2018	12
10	Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures Frontiers in Genetics ·Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy G. Mitchell, Éva Morava, Rikke S. Møller, Guido Rubboli	2021	7
11	The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis Blood ·Satheesh Chonat, Mary Risinger, Neha Dagaonkar, Tamara Maghathe, Jennifer Rothman, Jessica Connor, Karen Kalinyak, Amber Begtrup, Kejian Zhang, Theodosia A. Kalfa	2015	2
12	CTLA4 variant curation using adapted ACMG/AMP guidelines Clinical Immunology ·William Hankey, Lindsay Worley, K. F. Hilliard, Shannon McNulty, Xiao Peng, Neil Romberg, Anne Puel, Amber Begtrup, Alejandro Nieto-Patlán	2023	1
13	The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype Blood ·Mary Risinger, Edyta Glogowska, Amber Begtrup, Neha Dagaonkar, Satheesh Chonat, Clinton H. Joiner, Charles T. Quinn, Theodosia A. Kalfa, Patrick G. Gallagher	2014	1
14	A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype Human Genetics and Genomics Advances ·Leah J. Rowe, Sureni V. Mullegama, Rachel C. Lombardo, Caitlin Barnes, Shelley Towner, Matthew T. Snyder, Alexis R. Heidlebaugh, Heather Riordan, Amber Begtrup, Amy Crunk, Hong Cui, Amy Dameron, Leandra Folk, María J. Guillen Sacoto, Jane Juusola, Olivia L Redlich, Adi Reich, Bobbi McGivern	2025	1

About Amber Begtrup

Amber Begtrup is a scholar working on Genetics, Molecular Biology, Genetics, Pulmonary and Respiratory Medicine and Cognitive Neuroscience, having authored 14 papers that have together received 265 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (6 papers), Metabolism and Genetic Disorders (2 papers), Blood groups and transfusion (2 papers), Autism Spectrum Disorder Research (2 papers), Blood properties and coagulation (2 papers), Genomics and Rare Diseases (2 papers), Genetic Syndromes and Imprinting (2 papers) and Erythrocyte Function and Pathophysiology (2 papers). The work is most often cited by research in Genetics (92 citations), Molecular Biology (143 citations), Clinical Biochemistry (13 citations), Cancer Research (20 citations) and Immunology and Allergy (7 citations). Amber Begtrup has collaborated with scholars based in United States, Germany and Netherlands. Frequent co-authors include Francisca Millan, Megan T. Cho, Kyle Retterer, Jutta Gärtner, Michael Müller, Annika Wolf, Joseph A. Church, Rhonda E. Schnur, Hölger Thiele and Janine Altmüller. Their work appears in journals such as Clinical Genetics, Blood, The American Journal of Human Genetics, Nature Communications and Bone.

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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