Ruth Sheffer

1.2k citations

22 papers · 627 · h-index 14

Impact in

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders
Sensory Systems top 10%

Papers in

Molecular Biology 12
- ATP Synthase and ATPases Research 3
- Mitochondrial Function and Pathology 3
- Retinal Development and Disorders 2
Genetics 7
- Genomics and Rare Diseases 3
- Genetics and Neurodevelopmental Disorders 2

Co-authors: Christopher F. Hoth (1 shared paper)Aubrey Milunsky (1 shared paper)Clinton T. Baldwin (1 shared paper)Sterling K. Clarren (1 shared paper)Vardiella Meiner (5 shared papers)Ann Saada (4 shared papers)Liza Douiev (3 shared papers)Joël Zlotogora (2 shared papers)
Journals: Scientific Reports (1 paper)British Journal of Haematology (1 paper)Neuroradiology (1 paper)European Journal of Human Genetics (1 paper)Neurology (1 paper)
Partner nations: Israel United States Germany

In The Last Decade

Ruth Sheffer

21 papers receiving 620 citations

Peers

Countries citing papers authored by Ruth Sheffer

Since Specialization

Citations

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

Fields of papers citing papers by Ruth Sheffer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 22 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). PubMed ·Christopher F. Hoth, Aubrey Milunsky, Nina R. Lipsky, Ruth Sheffer, Sterling K. Clarren, Clinton T. Baldwin	1993	191
2	Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function American Journal of Medical Genetics Part A ·Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman, Vardiella Meiner, Ann Saada	2016	78
3	Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia Neurology ·Alexander Lossos, Claudia Stümpfig, Giovanni Stévanin, Marion Gaussen, Bat-El Zimmerman, Emeline Mundwiller, Moriya Asulin, Liat Chamma, Ruth Sheffer, Adel Misk, Shlomo Dotan, John M. Gomori, Penina Ponger, Alexis Brice, Israela Lerer, Vardiella Meiner, Roland Lill	2015	56
4	Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening Human Genetics ·Juanliang Cai, Barbara K. Goodman, Ankita Patel, John B. Mulliken, Lionel Van Maldergem, George Hoganson, William A. Paznekas, Ziva Ben‐Neriah, Ruth Sheffer, Michael L. Cunningham, Donna L. Daentl, Ethylin Wang Jabs	2003	54
5	Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy European Journal of Human Genetics ·Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana, Nitay Fraenkel, Eli M. Eisenstein, Malcolm Rabie, Yoram Nevo, Chaim Jalas, Orly Elpeleg, Simon Edvardson, Tamar Harel	2019	29
6	Autosomal dominant inheritance of Klein–Waardenburg syndrome American Journal of Medical Genetics ·Ruth Sheffer, Joël Zlotogora	1992	24
7	Mucolipidosis type IV: A mild form with late onset American Journal of Medical Genetics ·Shmuel Ries, Ruth Sheffer, Saul Merin, Anthony Luder, Gideon Bach	1993	24
8	Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells Cells ·Liza Douiev, Ruth Sheffer, Gabriella Horváth, Ann Saada	2020	24
9	MRI of mannosidosis Neuroradiology ·Michael N. Patlas, Moran Shapira, A Nagler, Ruth Sheffer, John M. Gomori	2001	17
10	Behr's Syndrome and 3-Methylglutaconic Aciduria American Journal of Ophthalmology ·Ruth Sheffer, Joël Zlotogora, Orly Elpeleg, Jerusalem Raz, D. BenEzra	1992	16
11	TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations Scientific Reports ·Alaa AlTalbishi, Lina Zelinger, Christina Zeitz, Karen Hendler, Prasanthi Namburi, Isabelle Audo, Ruth Sheffer, Claudia Yahalom, Samer Khateb, Eyal Banin, Dror Sharon	2019	15
12	Early-onset sensorineural hearing loss is a prominent feature of H syndrome International Journal of Pediatric Otorhinolaryngology ·Yuval Ramot, Koji Sayama, Ruth Sheffer, Victoria Doviner, Nurith Hiller, Michal Kaufmann-Yehezkely, Abraham Zlotogorski	2010	15
13	Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia Clinical Genetics ·Eli B. Cadoff, Ruth Sheffer, Shlomo Wientroub, Dror Ovadia, Vardiella Meiner, Jean E. Schwarzbauer	2018	14
14	Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D Journal of Biological Chemistry ·Edgar Garza-López, Josue A. Lopez, Jussara Hagen, Ruth Sheffer, Vardiella Meiner, Amy Lee	2018	13
15	Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel Prenatal Diagnosis ·Mordechai Shohat, Edna Akstein, Bella Davidov, Gad Barkai, Cyril Legum, M David, Hanna Dar, Yitzhak Romem, Aliza Amiel, H Cohen, Gideon Bach, Ziva Ben‐Neriah, Ruth Sheffer, Z. Appelman, Juan Chemke, Pnina Zadka, Tamy Zer, Boleslaw Goldman	1995	12
16	De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy Molecular Genetics & Genomic Medicine ·Maja Tarailo‐Graovac, Farah Zahir, Irena Živković, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia Stöckler‐Ipsiroglu, Ruth Sheffer, Ann Saada, Jan M. Friedman, Clara van Karnebeek, Gabriella Horváth	2019	12
17	Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene Neurogenetics ·Ruth Sheffer, Odeya Bennett-Back, Yaacov Barak, Simon Edvardson, Moshe Gomori, Marion Werner, Duha Fahham, Irene Anteby, Ayala Frumkin, Vardiella Meiner, Orly Elpeleg	2014	10
18	Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state Journal of Medical Genetics ·Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuß, Peter Burfeind, Bernd Wollnik, Knut Brockmann	2021	10
19	A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma British Journal of Dermatology ·Ghalia Ashoor, M. Massé, Luigia Luciano, Ruth Sheffer, Amalia Martı́nez-Mir, Angela M. Christiano, A. Zlotogorski	2006	7
20	Disturbed patterns of globin chain synthesis in childhood monosomy 7 myeloproliferative syndrome British Journal of Haematology ·Ruth Sheffer, Gabriel Cividalli, Y. Zaharan, Hanna Tamari, E Okon	1988	5

About Ruth Sheffer

Ruth Sheffer is a scholar working on Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Pediatrics, Perinatology and Child Health and Clinical Biochemistry, having authored 22 papers that have together received 627 indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (3 papers), ATP Synthase and ATPases Research (3 papers), Genomics and Rare Diseases (3 papers), Mitochondrial Function and Pathology (3 papers), Lysosomal Storage Disorders Research (2 papers), Genetics and Neurodevelopmental Disorders (2 papers), Retinal Development and Disorders (2 papers) and Mast cells and histamine (1 paper). The work is most often cited by research in Clinical Biochemistry (94 citations), Sensory Systems (46 citations), Cell Biology (118 citations), Molecular Biology (417 citations) and Genetics (156 citations). Ruth Sheffer has collaborated with scholars based in Israel, United States and Germany. Frequent co-authors include Christopher F. Hoth, Aubrey Milunsky, Clinton T. Baldwin, Sterling K. Clarren, Vardiella Meiner, Ann Saada, Liza Douiev, Joël Zlotogora, Simon Edvardson and Devorah Soiferman. Their work appears in journals such as Scientific Reports, British Journal of Haematology, Neuroradiology, European Journal of Human Genetics and Neurology.

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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