Joseph Shen

3.9k citations

26 papers · 1.3k indexed · h-index 16

Impact in

Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics
Genetics top 5%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases

Papers in

Genetics 16
- Genomic variations and chromosomal abnormalities 11
- Genomics and Rare Diseases 4
- Genetic Syndromes and Imprinting 2
Clinical Biochemistry 3
- Metabolism and Genetic Disorders 3

Co-authors: Terry Hassold Michelle Merrill Darren K. Griffin M.A. Abruzzo Elise Millie Michael V. Zaragoza Stephanie L. Sherman Dorothy Pettay
Journals: Genetics in Medicine (3 papers)Environmental and Molecular Mutagenesis (2 papers)Pediatric Blood & Cancer (1 paper)Nature Genetics (1 paper)Journal of Inherited Metabolic Disease (1 paper)
Partner nations: United States Canada Netherlands

In The Last Decade

Joseph Shen

25 papers receiving 1.3k citations

Peers

Countries citing papers authored by Joseph Shen

Since Specialization

Citations

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

Fields of papers citing papers by Joseph Shen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

#	Work
1	Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis Neurology Neuroimmunology & Neuroinflammation ·Tiffany Hu, Javier Rodríguez, Lara Zimmermann, Pedro Henrique Soares de Quadros Lopes, S. Alsabbagh, D. Banta, Jeong Han Lee, Joseph Shen, Mona Mohammed Abdullah Al Mqbas, Rebeca Bose, S. S. Sidhu, A. W. C Silva, Ariane Soldatos, Jeffrey M. Gelfand, Michael R. Wilson, Pyshnenko Mv	2025	0
2	CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants BMC Medical Genomics ·E. Eausch, Dian Aryanti Subardin, Okey Noe, M Maier, Timothy J. Foster, Joseph Shen	2021	11
3	The role of clinical response to treatment in determining pathogenicity of genomic variants Genetics in Medicine ·Joseph Shen, Saskia B. Wortmann, Lonneke de Boer, Leo A. J. Kluijtmans, Marleen C.D.G. Huigen, Johannes Koch, Adriana Sandoval Granizo, Christin Collins, Robin van der Lee, Clara van Karnebeek, Madhuri Hegde	2020	10
4	Two cases of Temple–Baraitser syndrome Clinical Dysmorphology ·Joseph Shen	2015	6
5	BRAT1‐related disease—identification of a patient without early lethality American Journal of Medical Genetics Part A ·Nguyễn Thúy Hạnh, Bryan L. Krock, Rong Mao, Joseph Shen	2015	20
6	An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study Genes Chromosomes and Cancer ·Rina Kansal, Xinmin Li, Joseph Shen, David Samuel, Fred H. Laningham, Hane Lee, Gagan B. Panigrahi, Andrew Y. Shuen, Sibel Kantarci, Naghmeh Dorrani, Jean Reiss, Peter Shintaku, Joshua L. Deignan, Samuel P. Strom, Christopher E. Pearson, Éric Vilain, Wayne W. Grody	2015	4
7	Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement American Journal of Medical Genetics Part A ·Hussam Al‐Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni, Marwan Shinawi	2014	29
8	Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 Clinical Genetics ·Diana Indriani, Magdalena Bartnik, Davut Pehli̇van, Ping Fang, Joseph Shen, J.R. Lupski	2011	25
9	Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Genetics in Medicine ·Ayman W. El‐Hattab, Fangyuan Li, Joseph Shen, Berkley R. Powell, Erawati V. Bawle, Darius J. Adams, 裕及川, Joyce A. Kobori, Brett H. Graham, Fernando Scaglia, Lee‐Jun Wong	2010	81
10	Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 European Journal of Human Genetics ·Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, I. Dill, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung	2009	103
11	Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency Genetics in Medicine ·Naohiro Kurotaki, Joseph Shen, Г. П. Козубовская, Tatsuro Kondoh, Remco Visser, Takao Ozaki, Junji Nishimoto, Takashi Shiihara, Kimiaki Uetake, Yoshio Makita, Naoki Harada, Salmo Raskin, Chester Brown, Pia Höglund, Nobuhiko Okamoto, James R. Lupski	2005	33
12	Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review Journal of Perinatology ·Patnala Phani Kumar, Ehda Azab, Joseph Shen, Caraciolo J. Fernandes	2005	29
13	Low factor XII level in an individual with Sotos syndrome Pediatric Blood & Cancer ·Joseph Shen, Naohiro Kurotaki, Ankita Patel, James R. Lupski, Chester Brown	2004	3
14	Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy‐Walker malformation American Journal of Medical Genetics ·Seung Bo Park, Joseph Shen, Stacey Curry, Sue Ann Berend, Catherine D. Kashork, Halit Pınar, Lorraine Potocki, Bassem A. Bejjani	2002	41
15	Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disorders Journal of Inherited Metabolic Disease ·Joseph Shen, Dietrich Matern, David S. Millington, Steven L Hillman, M.D. Feezor, Michael J. Bennett, Mazin Β. Qumsiyeh, Stephen G. Kahler, (unknown), Johan L.K. Van Hove	2000	53
16	Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome Chromosoma ·Joseph Shen, S. L. Sherman, Terry Hassold	1998	14
17	Human aneuploidy: Incidence, origin, and etiology Environmental and Molecular Mutagenesis ·Terry Hassold, M.A. Abruzzo, Eduardo Bohrer de Azevedo, Darren K. Griffin, Michelle Merrill, Elise Millie, Marko Zrile-Mladen Zadravac, Joseph Shen, Michael V. Zaragoza	1996	337
18	Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II Nature Genetics ·Neil E. Lamb, Sallie B. Freeman, Amanda Savage-Austin, Dorothy Pettay, Lisa F. Taft, MV Ramchandraprasad, I. R. Bonilla, Joseph Shen, Marko Zrile-Mladen Zadravac, NicholasP. Tomkinson, Dimitris Avramopoulos, Michael B. Petersen, C. Ojong, Margareta Mikkelsen, Terry Hassold, Stephanie L. Sherman	1996	290
19	Human aneuploidy: Incidence, origin, and etiology Environmental and Molecular Mutagenesis ·Terry Hassold, M.A. Abruzzo, Eduardo Bohrer de Azevedo, Darren K. Griffin, Michelle Merrill, Elise Millie, Marko Zrile-Mladen Zadravac, Joseph Shen, Michael V. Zaragoza	1996	28
20	Cytogenetic and molecular studies of Down syndrome individuals with leukemia. PubMed ·Joseph Shen, Briana J. Williams, Alvin Zipursky, John Doyle, Stephanie L. Sherman, P. A. Jacobs, Andrea Shugar, Shirley Soukup, Terry Hassold	1995	52

About Joseph Shen

Joseph Shen is a scholar working on Genetics, Clinical Biochemistry, Molecular Biology, Pediatrics, Perinatology and Child Health and Biochemistry, having authored 26 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (11 papers), Congenital heart defects research (5 papers), Chromosomal and Genetic Variations (5 papers), Genomics and Rare Diseases (4 papers), Metabolism and Genetic Disorders (3 papers), Genetic Syndromes and Imprinting (2 papers), Hedgehog Signaling Pathway Studies (2 papers) and Mitochondrial Function and Pathology (2 papers). The work is most often cited by research in Pediatrics, Perinatology and Child Health (481 citations), Genetics (598 citations), Clinical Biochemistry (128 citations), Molecular Biology (678 citations) and Reproductive Medicine (81 citations). Joseph Shen has collaborated with scholars based in United States, Canada and Netherlands. Frequent co-authors include Terry Hassold, Michelle Merrill, Darren K. Griffin, M.A. Abruzzo, Elise Millie, Michael V. Zaragoza, Stephanie L. Sherman, Dorothy Pettay, Margareta Mikkelsen and Neil E. Lamb. Their work appears in journals such as Genetics in Medicine, Environmental and Molecular Mutagenesis, Pediatric Blood & Cancer, Nature Genetics and Journal of Inherited Metabolic Disease.

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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