Claudia Soler‐Alfonso

763 citations

21 papers · 333 indexed · h-index 12

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders 11
Genetics
- Genetics and Neurodevelopmental Disorders 5
- Genomic variations and chromosomal abnormalities 4
- Genomics and Rare Diseases 3
Rheumatology
- Glycogen Storage Diseases and Myoclonus 4
- Folate and B Vitamins Research 2
Biochemistry
Genetics
- Genetics and Neurodevelopmental Disorders 5
- Genomic variations and chromosomal abnormalities 4
- Genomics and Rare Diseases 3
Molecular Biology
- Mitochondrial Function and Pathology 7
- Biochemical and Molecular Research 2

Co-authors: Fernando Scaglia James R. Lupski Mohammed Almannai Ayman W. El‐Hattab Lorraine Potocki Brian J. Shayota Sarah H. Elsea Gregory M. Enns
Cited by: Clinical Biochemistry Genetics Rheumatology
Journals: SHILAP Revista de lepidopterología (1 paper)The Journal of Pediatrics (1 paper)European Journal of Human Genetics (1 paper)
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

The 25 scholars most cited alongside Claudia Soler‐Alfonso, 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 Claudia Soler‐Alfonso Line = papers co-authored together Claudia Soler‐Alfonso links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model JCI Insight ·Rebecca L. Koch,Bridget T. Kiely,Su Jin Choi,William R. Jeck,Leticia S. Flores,Vikrant Sood,Seema Alam,Gilda Porta,Katy LaVecchio,Claudia Soler‐Alfonso,Priya S. Kishnani	2024	0
2	Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource Molecular Genetics and Metabolism ·Rebecca L. Koch,Claudia Soler‐Alfonso,Bridget T. Kiely,Akihiro Asai,Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,Hasan O. Akman,T. Burrow,Jennifer Orthmann‐Murphy,Deberah S. Goldman,Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	2023	21
3	O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV* SHILAP Revista de lepidopterología ·Rebecca E. Koch,Claudia Soler‐Alfonso,Bridget Kiely,Akihiro Asai,Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,H. Orhan Akman,T. Burrow,Jennifer Orthmann‐Murphy,Deberah Goldman,Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	2023	1
4	Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment JIMD Reports ·Eran Tallis,Cécile Karsenty,Amanda B. Grimes,Lina Karam,Sarah H. Elsea,Vernon Reed Sutton,Brandy Rawls-Castillo,Ning Liu,Claudia Soler‐Alfonso	2022	15
5	PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy Clinical Genetics ·Sugi Panneerselvam,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)	2021	11
6	Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young Pediatric Diabetes ·Mustafa Tosur,Claudia Soler‐Alfonso,Katie Chan,Michael M. Khayat,Shalini N. Jhangiani,Qingchang Meng,Ahmad Refaey,Donna M. Muzny,Richard A. Gibbs,David R. Murdock,Jennifer E. Posey,Ashok Balasubramanyam,María J. Redondo,Aniko Sabo	2021	5
7	TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation Molecular Genetics and Metabolism ·Chaya N. Murali,Claudia Soler‐Alfonso,Kathleen M. Loomes,Amit A. Shah,Danielle Monteil,Carmencita D. Padilla,Fernando Scaglia,Rebecca Ganetzky	2021	13
8	Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy Journal of Child Neurology ·Jaehyung Lim,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	2021	3
9	Clinical trials in mitochondrial disorders, an update Molecular Genetics and Metabolism ·Mohammed Almannai,Ayman W. El‐Hattab,M. Nadir Ali,Claudia Soler‐Alfonso,Fernando Scaglia	2020	50
10	Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS American Journal of Medical Genetics Part A ·Rachel Franciskovich,Claudia Soler‐Alfonso,Juanita Neira‐Fresneda,James R. Lupski,Bonnie McCann‐Crosby,Lorraine Potocki	2020	4
11	L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency Molecular Genetics and Metabolism Reports ·Claudia Soler‐Alfonso,N. Padmanabha Pillai,Erin Cooney,Krupa R. Mysore,Suzanne Boyer,Fernando Scaglia	2019	15
12	Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review Molecular Genetics and Metabolism ·Nishitha R. Pillai,Bridget M. Stroup,Anna Poliner,Linda Rossetti,Brandy Rawls,Brian J. Shayota,Claudia Soler‐Alfonso,Hari Priya Tunuguntala,John A. Goss,William Craigen,Fernando Scaglia,V. Reid Sutton,Ryan Himes,Lindsay C. Burrage	2019	43
13	Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Leukemia Journal of Pediatric Hematology/Oncology ·Ross Mangum,Claudia Soler‐Alfonso,Sherri Birchansky,Alexandra M. Stevens	2019	0
14	Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency American Journal of Medical Genetics Part A ·Brian J. Shayota,Claudia Soler‐Alfonso,Mir Reza Bekheirnia,Elizabeth Mizerik,Suzy W. Boyer,Rui Xiao,Yaping Yang,Sarah H. Elsea,Fernando Scaglia	2019	19
15	TANGO2-Related Metabolic Encephalopathy and Arrhythmias Seema R. Lalani,Brett H. Graham,Lindsay C. Burrage,Yi‐Chen Lai,Fernando Scaglia,Claudia Soler‐Alfonso,Christina Y. Miyake,Yaping Yang	2018	7
16	Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism Pediatric Neurology ·Claudia Soler‐Alfonso,Gregory M. Enns,Mary Kay Koenig,Heather Saavedra,Eliana Bonfante-Mejia,Hope Northrup	2014	25
17	Improved standards for prenatal diagnosis of citrullinemia Molecular Genetics and Metabolism ·Marcus J. Miller,Claudia Soler‐Alfonso,Jaime E. Grund,Ping Fang,Qin Sun,Sarah H. Elsea,V. Reid Sutton	2014	6
18	CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree 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	2014	31
19	Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome American Journal of Medical Genetics Part A ·Pilar Magoulas,Pengfei Liu,Violet Gelowani,Claudia Soler‐Alfonso,Emma Kivuva,James R. Lupski,Lorraine Potocki	2013	23
20	Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive The Journal of Pediatrics ·Claudia Soler‐Alfonso,Kathleen J. Motil,Catherine L. Turk,Patricia Robbins‐Furman,Ellen M. Friedman,Feng Zhang,James R. Lupski,J. Kennard Fraley,Lorraine Potocki	2010	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), Genetics and Neurodevelopmental Disorders (5 papers), Glycogen Storage Diseases and Myoclonus (4 papers), Genomic variations and chromosomal abnormalities (4 papers), Genomics and Rare Diseases (3 papers), Biochemical and Molecular Research (2 papers) and Folate and B Vitamins Research (2 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.

Explore authors with similar magnitude of impact