Beth S. Torchia

3.4k total citations
34 papers, 1.6k citations indexed

About

Beth S. Torchia is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Beth S. Torchia has authored 34 papers receiving a total of 1.6k indexed citations (citations by other indexed papers that have themselves been cited), including 31 papers in Genetics, 14 papers in Molecular Biology and 11 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Beth S. Torchia's work include Genomic variations and chromosomal abnormalities (21 papers), Genetics and Neurodevelopmental Disorders (12 papers) and Prenatal Screening and Diagnostics (11 papers). Beth S. Torchia is often cited by papers focused on Genomic variations and chromosomal abnormalities (21 papers), Genetics and Neurodevelopmental Disorders (12 papers) and Prenatal Screening and Diagnostics (11 papers). Beth S. Torchia collaborates with scholars based in United States, Canada and United Kingdom. Beth S. Torchia's co-authors include Lisa G. Shaffer, Blake C. Ballif, Jill A. Rosenfeld, Bassem A. Bejjani, Justine Coppinger, J. Britt Ravnan, Barbara R. Migeon, Allen N. Lamb, Jay W. Ellison and Anne M. Bandholz and has published in prestigious journals such as PLoS ONE, PEDIATRICS and Genome Research.

In The Last Decade

Beth S. Torchia

34 papers receiving 1.5k citations

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author Last Decade Papers Cites
Beth S. Torchia 1.2k 693 686 171 109 34 1.6k
Justine Coppinger 1.2k 1.0× 480 0.7× 857 1.2× 182 1.1× 99 0.9× 24 1.5k
Amber N. Pursley 1.1k 0.9× 498 0.7× 690 1.0× 250 1.5× 61 0.6× 28 1.4k
Griet Van Buggenhout 1.2k 1.0× 1.0k 1.5× 444 0.6× 200 1.2× 112 1.0× 63 1.9k
J.J.M. Engelen 1.1k 0.9× 680 1.0× 464 0.7× 402 2.4× 106 1.0× 92 1.7k
Valérie Malan 923 0.8× 733 1.1× 333 0.5× 95 0.6× 135 1.2× 69 1.4k
G. Shashidhar Pai 981 0.8× 796 1.1× 450 0.7× 257 1.5× 232 2.1× 55 1.9k
Arabella Smith 1.2k 1.0× 605 0.9× 591 0.9× 103 0.6× 182 1.7× 119 1.8k
Philippos C. Patsalis 1.2k 1.0× 1.0k 1.5× 705 1.0× 266 1.6× 79 0.7× 100 2.0k
Gordana Raca 1.1k 0.9× 586 0.8× 490 0.7× 85 0.5× 94 0.9× 62 1.7k
Robert‐Jan H. Galjaard 1.2k 1.0× 859 1.2× 1.0k 1.5× 83 0.5× 111 1.0× 65 2.2k

Countries citing papers authored by Beth S. Torchia

Since Specialization
Citations

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

Fields of papers citing papers by Beth S. Torchia

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Beth S. Torchia. 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 Beth S. Torchia. The network helps show where Beth S. Torchia may publish in the future.

Co-authorship network of co-authors of Beth S. Torchia

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

All Works

20 of 20 papers shown
1.
Rosenfeld, Jill A., Lisa D. McDaniel, Roger A. Schultz, et al.. (2014). Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens. Fetal Diagnosis and Therapy. 36(3). 231–241. 9 indexed citations
2.
Rosenfeld, Jill A., Kyae Hyung Kim, Brad Angle, et al.. (2012). Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Molecular Syndromology. 3(6). 247–254. 37 indexed citations
3.
Lamb, Allen N., Jill A. Rosenfeld, Justine Coppinger, et al.. (2012). Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis. Genetics in Medicine. 14(11). 914–921. 10 indexed citations
4.
Neill, Nicholas J., Blake C. Ballif, Allen N. Lamb, et al.. (2011). Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Research. 21(4). 535–544. 41 indexed citations
5.
Sahoo, Trilochan, Aaron Theisen, Michael Marble, et al.. (2011). Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. American Journal of Medical Genetics Part A. 155(12). 3110–3115. 16 indexed citations
6.
Shaffer, Lisa G., Justine Coppinger, Sarah Alliman, et al.. (2011). The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenatal Diagnosis. 31(8). 778–787. 33 indexed citations
7.
Sahoo, Trilochan, Aaron Theisen, Jill A. Rosenfeld, et al.. (2011). Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genetics in Medicine. 13(10). 868–880. 75 indexed citations
8.
Sahoo, Trilochan, Aaron Theisen, Pedro A. Sanchez‐Lara, et al.. (2011). Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. American Journal of Medical Genetics Part A. 155(7). 1646–1653. 53 indexed citations
9.
Rosenfeld, Jill A., Blake C. Ballif, Beth S. Torchia, et al.. (2010). Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genetics in Medicine. 12(11). 694–702. 92 indexed citations
10.
Rosenfeld, Jill A., Yves Lacassie, Dima El‐Khechen, et al.. (2010). New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. European Journal of Medical Genetics. 54(1). 42–49. 27 indexed citations
11.
Rosenfeld, Jill A., John A. Crolla, Susan Tomkins, et al.. (2010). Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. American Journal of Medical Genetics Part A. 152A(8). 1951–1959. 37 indexed citations
12.
Neill, Nicholas J., Beth S. Torchia, Bassem A. Bejjani, Lisa G. Shaffer, & Blake C. Ballif. (2010). Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Molecular Cytogenetics. 3(1). 11–11. 48 indexed citations
13.
Rosenfeld, Jill A., Blake C. Ballif, Donna M. Martin, et al.. (2010). Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human Genetics. 127(4). 421–440. 55 indexed citations
14.
Traylor, Ryan N., Damien L. Bruno, Trent Burgess, et al.. (2010). A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33. PLoS ONE. 5(8). e12462–e12462. 21 indexed citations
15.
Rosenfeld, Jill A., Kathleen A. Leppig, Blake C. Ballif, et al.. (2009). Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genetics in Medicine. 11(11). 797–805. 55 indexed citations
16.
17.
Shaffer, Lisa G., Bassem A. Bejjani, Beth S. Torchia, et al.. (2007). The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 145C(4). 335–345. 128 indexed citations
18.
Liu, Alice Y.‐C., Beth S. Torchia, Barbara R. Migeon, & Robert F. Siliciano. (1997). The HumanNTTGene: Identification of a Novel 17-kb Noncoding Nuclear RNA Expressed in Activated CD4+T Cells. Genomics. 39(2). 171–184. 78 indexed citations
19.
Jani, Mihir, Beth S. Torchia, G. Shashidhar Pai, & Barbara R. Migeon. (1995). Molecular Characterization of Tiny Ring X Chromosomes from Females with Functional X Chromosome Disomy and Lack of cis X Inactivation. Genomics. 27(1). 182–188. 34 indexed citations
20.
Torchia, Beth S., et al.. (1994). DNA replication analysis of FMR1, XIST, and factor 8C loci by FISH shows nontranscribed X-linked genes replicate late.. PubMed. 55(1). 96–104. 47 indexed citations

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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