Gabriele Richard

10.6k citations

91 papers · 5.2k · h-index 41

Impact in

Sensory Systems top 1%
- Hearing, Cochlea, Tinnitus, Genetics
Nephrology top 1%
- Parathyroid Disorders and Treatments

Papers in

Molecular Biology 55
- Connexins and lens biology 27
- Wnt/β-catenin signaling in development and cancer 9
- RNA regulation and disease 9
Genetics 34
- Genetic and rare skin diseases. 8
- Dermatological and Skeletal Disorders 7

Co-authors: Jouni Uitto (23 shared papers)Thomas W. White (3 shared papers)Eli Sprecher (20 shared papers)Gülistan Meşe (2 shared papers)Sherri J. Bale (11 shared papers)John J. DiGiovanna (7 shared papers)Margarita Indelman (9 shared papers)Orit Topaz (7 shared papers)
Journals: Journal of Investigative Dermatology (18 papers)Genetics in Medicine (5 papers)The American Journal of Human Genetics (4 papers)Human Genetics (3 papers)Clinics in Dermatology (3 papers)
Partner nations: United States Israel United Kingdom

In The Last Decade

Gabriele Richard

88 papers receiving 5.1k citations

Peers

Countries citing papers authored by Gabriele Richard

Since Specialization

Citations

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

Fields of papers citing papers by Gabriele Richard

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Gabriele Richard, 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 Gabriele Richard Line = papers co-authored together Gabriele Richard 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 91 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis Nature Genetics ·Orit Topaz, Daniel L. Shurman, (unknown), Margarita Indelman, Paulina Ratajczak, Mordechai Mizrachi, Ziad Khamaysi, Doron M. Behar, Dan Petronius, Vered Friedman, Israel Zelikovic, S. Raimer, Arieh Metzker, Gabriele Richard, Eli Sprecher	2004	425
2	Gap Junctions: Basic Structure and Function Journal of Investigative Dermatology ·Gülistan Meşe, Gabriele Richard, Thomas W. White	2007	335
3	Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome The American Journal of Human Genetics ·Gabriele Richard, Fatima Rouan, Colin E. Willoughby, Nkecha Brown, Pil Joong Chung, Markku Ryynänen, Ethylin Wang Jabs, Sherri J. Bale, John J. DiGiovanna, Jouni Uitto, Laura Russell	2002	267
4	Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis Nature Genetics ·Gabriele Richard, Lisa E. Smith, Regina A. Bailey, Peter Itin, Daniel Hohl, Ervin H. Epstein, John J. DiGiovanna, John G. Compton, Sherri J. Bale	1998	248
5	Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders Epilepsia ·Amanda Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee McKnight	2018	193
6	Mutations and polymorphisms of the skeletal muscle Î±-actin gene (ACTA1) Human Mutation ·Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, Hanns LochmÃ ⁄ ller, Claudio Graziano, Stella Mitrani‐Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs, (unknown)	2009	173
7	Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14 The American Journal of Human Genetics ·Dana Fuchs‐Telem, Ofer Sarig, Maurice A. M. Van Steensel, Ofer Isakov, Shirli Israeli, Janna Nousbeck, Katharina Richard, Véronique Winnepenninckx, Marigje Vernooij, Noam Shomron, Jouni Uitto, Philip Fleckman, Gabriele Richard, Eli Sprecher	2012	163
8	LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum Journal of Investigative Dermatology ·Akemi Ishida‐Yamamoto, Céline Deraison, Chrystelle Bonnart, Emmanuelle Bitoun, R.A. Robinson, Timothy J. O’Brien, Kotaro Wakamatsu, Sawa Ohtsubo, Hidetoshi Takahashi, Yoshio Hashimoto, Patricia J.C. Dopping-Hepenstal, John A. McGrath, Hajime Iizuka, Gabriele Richard, Alain Hovnanian	2005	123
9	High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders Genetics in Medicine ·Mary Beth Stosser, Amanda Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M. Piccirillo-Stosser, Gabriele Richard, Dianalee McKnight	2017	122
10	Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness American Journal of Physiology-Cell Physiology ·Dwan A. Gerido, Adam M. DeRosa, Gabriele Richard, Thomas W. White	2007	120
11	Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin Nature Genetics ·Eli Sprecher, (unknown), Gabriele Richard, Raziel Lurie, Stavit A. Shalev, Dan Petronius, Adel Shalata, Yefim Anbinder, Rina Leibu, Ido Perlman, Nadine Cohen, Raymonde Szargel	2001	120
12	Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development Genetics in Medicine ·Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R. Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola	2017	118
13	The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis Journal of Investigative Dermatology ·Eli Sprecher, Shivan Amin, Karl Nielsen, Ellen G Pfendner, Jouni Uitto, Gabriele Richard, Stéphane Chavanas, John J. DiGiovanna, Julie Prendiville, Robert A. Silverman, Nancy B. Esterly, Mary K. Spraker, Ed Guelig, Margharita Larralde de Luna, Mary L. Williams, Bruce A. Buehler, Elaine C. Siegfried, Lionel Van Maldergem, Sherri J. Bale, Alain Hovnanian	2001	108
14	A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis The American Journal of Human Genetics ·Orit Topaz, Margarita Indelman, Ilana Chefetz, Dan Geiger, Aryeh Metzker, Yoram Altschuler, Mordechai Choder, Dani Bercovich, Jouni Uitto, (unknown), Gabriele Richard, Eli Sprecher	2006	98
15	Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants Genetics in Medicine ·Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora Jh Bean, Arunkanth Ankala, Daniela del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne Meck	2019	92
16	A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification Human Genetics ·Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou, Gabriele Richard, Bernd Wollnik, Margarita Indelman, Friederike Koerber, Orit Topaz, (unknown), Eli Sprecher, Eckhard Schöenau	2005	90
17	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders Journal of Molecular Medicine ·Yaacov Frishberg, Orit Topaz, (unknown), Doron M. Behar, Drora Fisher, Derek Gordon, Gabriele Richard, Eli Sprecher	2004	84
18	Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology ·Eli Sprecher, Christopher J. Miller, Gabriele Richard, Akemi Ishida‐Yamamoto, Oren M. Becker, Lyuben N. Marekov, Peter M. Steinert, Kenneth H. Neldner	2001	80
19	Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2 Journal of Investigative Dermatology ·Gabriele Richard, Nkecha Brown, Akemi Ishida‐Yamamoto, Alfons Krol	2004	80
20	The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome Molecular Biology of the Cell ·Gülistan Meşe, Caterina Sellitto, Leping Li, Hong-Zhan Wang, Virginijus Valiūnas, Gabriele Richard, Peter R. Brink, Thomas W. White	2011	78

About Gabriele Richard

Gabriele Richard is a scholar working on Molecular Biology, Genetics, Cell Biology, Nephrology and Dermatology, having authored 91 papers that have together received 5.2k indexed citations. Recurring topics across this work include Connexins and lens biology (27 papers), Skin and Cellular Biology Research (26 papers), Wnt/β-catenin signaling in development and cancer (9 papers), RNA regulation and disease (9 papers), Genetic and rare skin diseases. (8 papers), Parathyroid Disorders and Treatments (8 papers), Hearing, Cochlea, Tinnitus, Genetics (7 papers) and Dermatological and Skeletal Disorders (7 papers). The work is most often cited by research in Sensory Systems (421 citations), Nephrology (510 citations), Cell Biology (1.2k citations), Genetics (1.4k citations) and Dermatology (410 citations). Gabriele Richard has collaborated with scholars based in United States, Israel and United Kingdom. Frequent co-authors include Jouni Uitto, Thomas W. White, Eli Sprecher, Gülistan Meşe, Sherri J. Bale, John J. DiGiovanna, Margarita Indelman, Orit Topaz, Paulina Ratajczak and Kyle Retterer. Their work appears in journals such as Journal of Investigative Dermatology, Genetics in Medicine, The American Journal of Human Genetics, Human Genetics and Clinics in Dermatology.

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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