Claudia Soler‐Alfonso

763 citations

21 papers · 333 indexed · h-index 12

Co-authors: Fernando Scaglia James R. Lupski Mohammed Almannai Ayman W. El‐Hattab Lorraine Potocki Brian J. Shayota Sarah H. Elsea Gregory M. Enns
Topics: Metabolism and Genetic Disorders (11 papers)Mitochondrial Function and Pathology (7 papers)Genetics and Neurodevelopmental Disorders (5 papers)
Cited by: Clinical Biochemistry Genetics Rheumatology
Journals: SHILAP Revista de lepidopterologíaThe Journal of Pediatrics European Journal of Human Genetics
Partner nations: United States China Hong Kong

In The Last Decade

Claudia Soler‐Alfonso

19 papers receiving 332 citations

Peers

Countries citing papers authored by Claudia Soler‐Alfonso

Since Specialization

Citations

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

Fields of papers citing papers by Claudia Soler‐Alfonso

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Claudia Soler‐Alfonso. 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 Claudia Soler‐Alfonso. The network helps show where Claudia Soler‐Alfonso may publish in the future.

Co-authorship network of co-authors of Claudia Soler‐Alfonso

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

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model 2024 ·JCI Insight ·(unknown),(unknown),Su Jin Choi,William R. Jeck,(unknown),Vikrant Sood,Seema Alam,Gilda Porta,(unknown),Claudia Soler‐Alfonso,Priya S. Kishnani	0
2	Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 ·Molecular Genetics and Metabolism ·(unknown),Claudia Soler‐Alfonso,(unknown),(unknown),Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,Hasan O. Akman,T. Burrow,Jennifer Orthmann‐Murphy,(unknown),Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	21
3	O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV* 2023 ·SHILAP Revista de lepidopterología ·Rebecca E. Koch,Claudia Soler‐Alfonso,Bridget Kiely,(unknown),Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,(unknown),T. Burrow,Jennifer Orthmann‐Murphy,(unknown),Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	1
4	Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment 2022 ·JIMD Reports ·(unknown),(unknown),Amanda B. Grimes,Lina Karam,Sarah H. Elsea,(unknown),(unknown),Ning Liu,Claudia Soler‐Alfonso	15
5	PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy 2021 ·Clinical Genetics ·(unknown),Julia Wang,Wenmiao Zhu,Hongzheng Dai,John Pappas,Rachel Rabin,Karen Low,Jill A. Rosenfeld,Lisa Emrick,Rui Xiao,Fan Xia,Yaping Yang,Christine M. Eng,Anne E. Anderson,Vann Chau,Claudia Soler‐Alfonso,Haley Streff,Seema R. Lalani,Saadet Mercimek‐Andrews,(unknown),(unknown),(unknown)	11
6	Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young 2021 ·Pediatric Diabetes ·Mustafa Tosur,Claudia Soler‐Alfonso,(unknown),Michael M. Khayat,Shalini N. Jhangiani,Qingchang Meng,(unknown),Donna M. Muzny,Richard A. Gibbs,David R. Murdock,Jennifer E. Posey,Ashok Balasubramanyam,María J. Redondo,Aniko Sabo	5
7	TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation 2021 ·Molecular Genetics and Metabolism ·Chaya N. Murali,Claudia Soler‐Alfonso,Kathleen M. Loomes,(unknown),(unknown),Carmencita D. Padilla,Fernando Scaglia,Rebecca Ganetzky	13
8	Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy 2021 ·Journal of Child Neurology ·(unknown),Brian J. Shayota,Erica Julianne Lay,Sarah H. Elsea,Mir Reza Bekheirnia,Mary Elizabeth M. Tessier,Stephen F. Kralik,Gregory M. Rice,Claudia Soler‐Alfonso,Fernando Scaglia	3
9	Clinical trials in mitochondrial disorders, an update 2020 ·Molecular Genetics and Metabolism ·Mohammed Almannai,Ayman W. El‐Hattab,(unknown),Claudia Soler‐Alfonso,Fernando Scaglia	50
10	Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS 2020 ·American Journal of Medical Genetics Part A ·(unknown),Claudia Soler‐Alfonso,(unknown),James R. Lupski,(unknown),Lorraine Potocki	4
11	L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency 2019 ·Molecular Genetics and Metabolism Reports ·Claudia Soler‐Alfonso,(unknown),Erin Cooney,Krupa R. Mysore,(unknown),Fernando Scaglia	15
12	Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review 2019 ·Molecular Genetics and Metabolism ·Nishitha R. Pillai,Bridget M. Stroup,(unknown),(unknown),(unknown),Brian J. Shayota,Claudia Soler‐Alfonso,(unknown),John A. Goss,William Craigen,Fernando Scaglia,V. Reid Sutton,Ryan Himes,Lindsay C. Burrage	43
13	Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Leukemia 2019 ·Journal of Pediatric Hematology/Oncology ·(unknown),Claudia Soler‐Alfonso,Sherri Birchansky,Alexandra M. Stevens	0
14	Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency 2019 ·American Journal of Medical Genetics Part A ·Brian J. Shayota,Claudia Soler‐Alfonso,Mir Reza Bekheirnia,(unknown),(unknown),Rui Xiao,Yaping Yang,Sarah H. Elsea,Fernando Scaglia	19
15	TANGO2-Related Metabolic Encephalopathy and Arrhythmias 2018 ·Seema R. Lalani,Brett H. Graham,Lindsay C. Burrage,Yi‐Chen Lai,Fernando Scaglia,Claudia Soler‐Alfonso,Christina Y. Miyake,Yaping Yang	7
16	Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism 2014 ·Pediatric Neurology ·Claudia Soler‐Alfonso,Gregory M. Enns,Mary Kay Koenig,(unknown),(unknown),Hope Northrup	25
17	Improved standards for prenatal diagnosis of citrullinemia 2014 ·Molecular Genetics and Metabolism ·Marcus J. Miller,Claudia Soler‐Alfonso,(unknown),Ping Fang,Qin Sun,Sarah H. Elsea,V. Reid Sutton	6
18	CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree 2014 ·European Journal of Human Genetics ·Claudia Soler‐Alfonso,Claudia M.B. Carvalho,Jun Ge,Erin K. Roney,Patricia I. Bader,Katarzyna Kołodziejska,Rachel Miller,James R. Lupski,Paweł Stankiewicz,Sau Wai Cheung,Weimin Bi,Christian P. Schaaf	31
19	Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome 2013 ·American Journal of Medical Genetics Part A ·Pilar Magoulas,Pengfei Liu,Violet Gelowani,Claudia Soler‐Alfonso,Emma Kivuva,James R. Lupski,Lorraine Potocki	23
20	Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive 2010 ·The Journal of Pediatrics ·Claudia Soler‐Alfonso,Kathleen J. Motil,(unknown),Patricia Robbins‐Furman,Ellen M. Friedman,Feng Zhang,James R. Lupski,J. Kennard Fraley,Lorraine Potocki	37

About Claudia Soler‐Alfonso

Claudia Soler‐Alfonso is a scholar working on Clinical Biochemistry, Rheumatology and Genetics, having authored 21 papers that have together received 333 indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (11 papers), Mitochondrial Function and Pathology (7 papers) and Genetics and Neurodevelopmental Disorders (5 papers). The work is most often cited by research in Clinical Biochemistry (129 citations), Genetics (135 citations) and Rheumatology (55 citations). Claudia Soler‐Alfonso has collaborated with scholars based in United States, China and Hong Kong. Frequent co-authors include Fernando Scaglia, James R. Lupski, Mohammed Almannai, Ayman W. El‐Hattab, Lorraine Potocki, Brian J. Shayota, Sarah H. Elsea, Gregory M. Enns, V. Reid Sutton and Lindsay C. Burrage. Their work appears in journals such as SHILAP Revista de lepidopterología, The Journal of Pediatrics and European Journal of Human Genetics.

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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