Joseph J. Orsini

2.6k citations

58 papers · 1.4k indexed · h-index 21

Co-authors: Michele Caggana Michael H. Gelb Monica Martin Joan Keutzer Dietrich Matern Olaf A. Bodamer Melissa Wasserstein David A. Wenger
Topics: Lysosomal Storage Disorders Research (40 papers)Metabolism and Genetic Disorders (14 papers)Trypanosoma species research and implications (11 papers)
Cited by: Clinical Biochemistry Physiology
Journals: Journal of the American Chemical Society Analytical Chemistry Science Translational Medicine
Partner nations: United States Austria Netherlands

In The Last Decade

Joseph J. Orsini

56 papers receiving 1.4k citations

Peers

Countries citing papers authored by Joseph J. Orsini

Since Specialization

Citations

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

Fields of papers citing papers by Joseph J. Orsini

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Joseph J. Orsini. 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 Joseph J. Orsini. The network helps show where Joseph J. Orsini may publish in the future.

Co-authorship network of co-authors of Joseph J. Orsini

This figure shows the co-authorship network connecting the top 25 collaborators of Joseph J. Orsini. A scholar is included among the top collaborators of Joseph J. Orsini 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 Joseph J. Orsini. Joseph J. Orsini 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	Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots 2025 ·Molecular Genetics and Metabolism ·(unknown),Khaja Basheeruddin,Soumeya Bekri,Heather A. Brown,Heather J. Church,(unknown),Xinying Hong,Simon Jones,(unknown),Francyne Kubaski,Petra Oliva,Joseph J. Orsini,Abdellah Tebani,(unknown),Gojko Lalić,Michael H. Gelb	1
2	Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements 2024 ·International Journal of Neonatal Screening ·Dietrich Matern,Khaja Basheeruddin,(unknown),(unknown),(unknown),Patricia Hall,Joanne Kurtzberg,Joseph J. Orsini	3
3	High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis 2024 ·Molecular Genetics and Metabolism ·(unknown),Francyne Kubaski,Laura Pollard,Khaja Basheeruddin,Barbara K. Burton,Joseph J. Orsini,Matthew Henderson,Pranesh Chakraborty,Michael H. Gelb	0
4	Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I 2023 ·International Journal of Neonatal Screening ·(unknown),George J. Dizikes,C. Austin Pickens,Carla Cuthbert,Khaja Basheeruddin,(unknown),(unknown),Amy Hietala,(unknown),(unknown),(unknown),(unknown),(unknown),Partha Neogi,Joseph J. Orsini,(unknown),Konstantinos Pétritis	5
5	Newborn Screening for Krabbe Disease and Identification of Minority Patients 2023 ·Pediatric Neurology ·Joshua L. Bonkowsky,Jacob Wilkes,(unknown),(unknown),Joanne Kurtzberg,Joseph J. Orsini	2
6	Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies 2023 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·(unknown),Philip J. Brooks,Dwight D. Koeberl,Amy Brower,Aaron J. Goldenberg,Robert C. Green,Jill A. Morris,Joseph J. Orsini,Timothy W. Yu,Erika F. Augustine	5
7	When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective 2023 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Melissa A. Parisi,Michele Caggana,Jennifer L. Cohen,Nina B. Gold,Jill A. Morris,Joseph J. Orsini,Tiina K. Urv,Melissa Wasserstein	8
8	VUS: Variant of uncertain significance or very unclear situation? 2023 ·Molecular Genetics and Metabolism ·Stephan Kemp,Joseph J. Orsini,Merel S. Ebberink,Marc Engelen,Troy C. Lund	9
9	ScreenPlus: A comprehensive, multi-disorder newborn screening program 2023 ·Molecular Genetics and Metabolism Reports ·Nicole Kelly,Joseph J. Orsini,Aaron J. Goldenberg,(unknown),(unknown),M Clarke,(unknown),Monica Martin,(unknown),Michele Caggana,Sean M. Bailey,Lisa R. Eiland,Jaya Ganesh,(unknown),(unknown),Suhas Nafday,Annemarie Stroustrup,Michael H. Gelb,Melissa Wasserstein	5
10	Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease 2021 ·Molecular Genetics and Metabolism ·(unknown),Margie Ream,Michael H. Gelb,Dietrich Matern,Joseph J. Orsini,Paul A. Levy,Jennifer Rubin,David A. Wenger,Barbara K. Burton,Maria L. Escolar,Joanne Kurtzberg	16
11	Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots 2018 ·Molecular Genetics and Metabolism ·Xuntian Jiang,Rohini Sidhu,Joseph J. Orsini,Nicole Y. Farhat,Forbes D. Porter,Elizabeth Berry‐Kravis,Jean E. Schaffer,Daniel S. Ory	19
12	Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease 2018 ·Genetics in Medicine ·Thomas J. Langan,Joseph J. Orsini,Kabir Jalal,Amy Barczykowski,Maria L. Escolar,Michele D. Poe,(unknown),Randy L. Carter	15
13	Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease 2018 ·Orphanet Journal of Rare Diseases ·Jennifer M. Kwon,Dietrich Matern,Joanne Kurtzberg,Lawrence Wrabetz,Michael H. Gelb,David A. Wenger,Can Fıçıcıoğlu,Amy Waldman,Barbara K. Burton,Patrick V. Hopkins,Joseph J. Orsini	68
14	Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy 2017 ·Molecular Genetics and Metabolism ·Irene C. Huffnagel,(unknown),(unknown),Joseph J. Orsini,Femke C. C. Klouwer,Inge M. E. Dijkstra,Peter C. J. I. Schielen,Henk van Lenthe,Ronald J. A. Wanders,Frédéric M. Vaz,Mark A. Morrissey,Marc Engelen,Stephan Kemp	47
15	Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease 2017 ·Genetics in Medicine ·Silvia Tortorelli,(unknown),Joseph J. Orsini,Colleen F. Stevens,(unknown),Patricia Hall,John Alexander,Dimitar Gavrilov,Devin Oglesbee,Kimiyo Raymond,Dietrich Matern,Piero Rinaldo	44
16	Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines 2015 ·Molecular Genetics and Metabolism ·Beth Vogel,(unknown),Darius J. Adams,Kristin D׳Aco,Richard W. Erbe,Chin-To Fong,Alejandro Iglesias,David Kronn,Pierre Lévy,Mark L. Morrissey,Joseph J. Orsini,(unknown),Joan E. Pellegrino,Carlos A. Saavedra‐Matiz,Natasha Shur,Melissa Wasserstein,Gerald V. Raymond,Michele Caggana	84
17	Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders 2012 ·Clinica Chimica Acta ·Joseph J. Orsini,Monica Martin,(unknown),Olaf A. Bodamer,(unknown),Michael H. Gelb,Michele Caggana	38
18	Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry 2010 ·Clinica Chimica Acta ·Angéla Dajnoki,György Fekete,Joan Keutzer,Joseph J. Orsini,Víctor R. De Jesús,Yin‐Hsiu Chien,Wuh‐Liang Hwu,Zoltán Lukács,Adolf Mühl,(unknown),Olaf A. Bodamer	44
19	Implementation of newborn screening for Krabbe disease: Population study and cutoff determination 2009 ·Clinical Biochemistry ·Joseph J. Orsini,Mark A. Morrissey,(unknown),(unknown),(unknown),Monica Martin,Joan Keutzer,(unknown),Wei‐Lien Chuang,Carole Elbin,Michele Caggana	45
20	Microwave assisted digestion of atmospheric aerosol samples followed by inductively coupled plasma mass spectrometry determination of trace elements 2001 ·Fresenius Journal of Analytical Chemistry ·(unknown),C. D. Judd,Joseph J. Orsini,(unknown),Liaquat Husain	70

About Joseph J. Orsini

Joseph J. Orsini is a scholar working on Clinical Biochemistry, Physiology and Equine, having authored 58 papers that have together received 1.4k indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (40 papers), Metabolism and Genetic Disorders (14 papers) and Trypanosoma species research and implications (11 papers). The work is most often cited by research in Clinical Biochemistry (312 citations), Physiology (877 citations) and Physiology (71 citations). Joseph J. Orsini has collaborated with scholars based in United States, Austria and Netherlands. Frequent co-authors include Michele Caggana, Michael H. Gelb, Monica Martin, Joan Keutzer, Dietrich Matern, Olaf A. Bodamer, Melissa Wasserstein, David A. Wenger, Adolf Mühl and Maria L. Escolar. Their work appears in journals such as Journal of the American Chemical Society, Analytical Chemistry and Science Translational Medicine.

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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