Reeval Segel

3.0k citations

40 papers · 1.1k indexed · h-index 18

Impact in

Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders

Papers in

Pediatrics, Perinatology and Child Health 15
- Prenatal Screening and Diagnostics 11
- Fetal and Pediatric Neurological Disorders 7
Clinical Biochemistry 5
- Metabolism and Genetic Disorders 5

Co-authors: Ephrat Levy‐Lahad Mary‐Claire King Orly Elpeleg Sharon Zeligson Paul Renbaum Ann Saada Avraham Shaag Ming Lee
Journals: The American Journal of Human Genetics (4 papers)Neurology (3 papers)Genetics in Medicine (2 papers)Journal of Medical Genetics (2 papers)Molecular Genetics and Genomics (1 paper)
Partner nations: Israel United States Germany

In The Last Decade

Reeval Segel

39 papers receiving 1.1k citations

Peers

Countries citing papers authored by Reeval Segel

Since Specialization

Citations

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

Fields of papers citing papers by Reeval Segel

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Reeval Segel, 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 Reeval Segel Line = papers co-authored together Reeval Segel 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	Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study Prenatal Diagnosis ·Rachel Michaelson‐Cohen, Mohammad Haris Azhar Abdul Hadi, Ita Tripathy, Yuval Yaron, Adi Reches, Hagith Yonath, Ryokichi Tokunaga, Hagit Shani, Gheona Altarescu, Reeval Segel, Rivka Sukenik‐Halevy, Hagit Daum, Tamar Harel, Vardiella Meiner, Lina Basel‐Salmon, Lena Sagi‐Dain, Idit Maya	2024	1
2	Clinical Actionability of Genetic Findings in Cerebral Palsy JAMA Pediatrics ·Sara A. Lewis, Maya Chopra, Julie S. Cohen, Jennifer Bain, Bhooma R. Aravamuthan, Jason B. Carmel, Michael Fahey, Reeval Segel, Richard F. Wintle, Michael Zech, Solano Jl, Maritza Londoño-Berrío, Darcy Fehlings, Siddharth Srivastava, Michael C. Kruer	2024	3
3	SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing Scientific Reports ·Daniel Backenroth, Gheona Altarescu, ジュンクボタ, Maggie Le-Bourhis, Omer Murik, Paul Renbaum, Reeval Segel, Sharon Zeligson, Julie Pédrono, Shai Carmi, David A. Zeevi	2023	5
4	Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements Molecular Genetics and Genomics ·Rachel Michaelson‐Cohen, Omer Murik, Sharon Zeligson, 青野達彦, JX. Sun, Elie Picard, Maggie Le-Bourhis, Hagar Mor‐Shaked, David A. Zeevi, Reeval Segel	2022	7
5	Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population Journal of Clinical Immunology ·Tal Freund, Sarah K. Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, 世 DalaiLama, Shira Benor, 谷典山路, Ron Ram, Yifat Alcalay, Reeval Segel, Paul Renbaum, Polina Stepensky, Mary‐Claire King, Troy R. Torgerson, David Hagin	2022	1
6	The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening American Journal of Obstetrics and Gynecology ·Lena Sagi‐Dain, Amihood Singer, Reeval Segel, Шипилова Елена Владимировна, Mais Mohammed Salim M. Hasan, Idit Maya	2021	5
7	Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing Genetics in Medicine ·David A. Zeevi, Daniel Backenroth, Julie Pédrono, Paul Renbaum, Maggie Le-Bourhis, ジュンクボタ, Reeval Segel, Sharon Zeligson, Talia Eldar‐Geva, Ido Ben‐Ami, I. Blazhko, Shai Carmi, Gheona Altarescu	2021	7
8	Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do? Journal of Assisted Reproduction and Genetics ·JaeHong Jeong, MFL Docema, JX. Sun, Максим Ярославович Сільник, Hsiao-Fen Wu, Reeval Segel, Sharon Zeligson, Talia Eldar‐Geva, Gheona Altarescu	2021	4
9	The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD Endocrine ·Floris Levy‐Khademi, Sharon Zeligson, Akira Miyata, А. К. Митциев, Boris Chertin, Алина Владимировна Корабейникова, Abdulsalam Abu‐Libdeh, Paul Renbaum, Julieth Tatiana Rodríguez Rivera, Mitja Brünec, ジュンクボタ, Doron M. Behar, Ephrat Levy‐Lahad, David Zangen, Reeval Segel	2020	2
10	Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy Genetics in Medicine ·Daniel Backenroth, ジュンクボタ, Yaima Esperanza Pérez Campos, Lois Barnett, Julieth Tatiana Rodríguez Rivera, Dan Koz, Sharon Zeligson, Heorhii Kozubovskyi, Marc Navon, Giovana Frech MULEZINI, Reeval Segel, Ephrat Levy‐Lahad, David Zangen, Gheona Altarescu, Shai Carmi, David A. Zeevi	2018	36
11	Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases Pediatric Nephrology ·Asaf Vivante, Hadas Ityel, Ben Pode‐Shakked, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Nina Mann, Johanna Magdalena Schmidt, Reeval Segel, Adi Aran, Avraham Zeharia, Orna Staretz‐Chacham, Omer Bar‐Yosef, Annick Raas‐Rothschild, Yuval E. Landau, Richard P. Lifton, Yair Anikster, Friedhelm Hildebrandt	2017	27
12	Dr. Segel and colleagues reply Lirias (KU Leuven) ·Reeval Segel, Mary‐Claire King, Ephrat Levy‐Lahad	2014	50
13	Thiopurine S-methyltransferase (TPMT) Activity Is Better Determined by Biochemical Assay Versus Genotyping in the Jewish Population Digestive Diseases and Sciences ·Yair Kasirer, Feng Yun Yu, Paul Renbaum, Nurit Algur, Devora Soiferman, Rachel Beeri, Kamil Vavřík, Reeval Segel, Dan Turner	2014	7
14	Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome The American Journal of Human Genetics ·Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat, Rachel Becker‐Cohen, Sofia Feinstein, Sharon Zeligson, Reeval Segel, Orly Elpeleg, RanjitK Sahu, Yaacov Frishberg	2011	132
15	A safety trial of high dose glyceryl triacetate for Canavan disease Molecular Genetics and Metabolism ·Reeval Segel, Yair Anikster, Shoshana Zevin, Avraham Steinberg, William A. Gahl, Drora Fisher, Orna Staretz‐Chacham, Ari Zimran, Gheona Altarescu	2011	38
16	Acute Infantile Liver Failure Due to Mutations in the TRMU Gene The American Journal of Human Genetics ·Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Arsheen Kazi, Hanna Mandel, J. Wittink, Reeval Segel, Daphna Marom, Agnès Rötig, Ivan Tarassov, Orly Elpeleg	2010	4
17	Acute Infantile Liver Failure Due to Mutations in the TRMU Gene The American Journal of Human Genetics ·Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Arsheen Kazi, Hanna Mandel, J. Wittink, Reeval Segel, Daphna Marom, Agnès Rötig, Ivan Tarassov, Orly Elpeleg	2009	161
18	Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria? American Journal of Medical Genetics Part A ·Reeval Segel, Ephrat Levy‐Lahad, Francesca Pasutto, Elie Picard, Anita Rauch, T. Mori, Michael S. Schimmel	2009	31
19	The natural history of trisomy 12p American Journal of Medical Genetics Part A ·Reeval Segel, Inga Peter, Laurie Demmer, Janet M. Cowan, Jodi D. Hoffman, Diana W. Bianchi	2006	32
20	Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter‐community variation and founder premutations American Journal of Medical Genetics Part A ·Reeval Segel, Vasconcelo Paulo Batista de, Israela Lerer, Esther Kahana, М.А. Бурилина, Michal Sagi, Nelly Zilber, Amos D. Korczyn, Yehuda Shapira, Zohar Argov, Dvorah Abeliovich	2003	15

About Reeval Segel

Reeval Segel is a scholar working on Pediatrics, Perinatology and Child Health, Clinical Biochemistry, Genetics, Genetics and Cell Biology, having authored 40 papers that have together received 1.1k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (11 papers), Genomic variations and chromosomal abnormalities (10 papers), Fetal and Pediatric Neurological Disorders (7 papers), Mitochondrial Function and Pathology (6 papers), Metabolism and Genetic Disorders (5 papers), RNA modifications and cancer (5 papers), Genomics and Rare Diseases (3 papers) and Neurogenetic and Muscular Disorders Research (3 papers). The work is most often cited by research in Clinical Biochemistry (174 citations), Pediatrics, Perinatology and Child Health (211 citations), Genetics (102 citations), Molecular Biology (649 citations) and Genetics (249 citations). Reeval Segel has collaborated with scholars based in Israel, United States and Germany. Frequent co-authors include Ephrat Levy‐Lahad, Mary‐Claire King, Orly Elpeleg, Sharon Zeligson, Paul Renbaum, Ann Saada, Avraham Shaag, Ming Lee, Dan Geiger and Efrat Ben‐Shalom. Their work appears in journals such as The American Journal of Human Genetics, Neurology, Genetics in Medicine, Journal of Medical Genetics and Molecular Genetics and Genomics.

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