Gretchen Golas

4.1k citations

23 papers · 920 · h-index 17

Impact in

Cell Biology top 10%
- melanin and skin pigmentation
Genetics top 10%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research

Papers in

Cell Biology 9
- melanin and skin pigmentation 7
- Skin and Cellular Biology Research 2
Molecular Biology 5
- RNA modifications and cancer 2

Co-authors: William A. Gahl (18 shared papers)David R. Adams (8 shared papers)Cornelius F. Boerkoel (8 shared papers)Thomas C. Markello (9 shared papers)Marjan Huizing (9 shared papers)Cynthia J. Tifft (9 shared papers)Tyler Mark Pierson (5 shared papers)Conisha Holloman (2 shared papers)
Journals: Nature Communications (1 paper)European Journal of Pediatrics (1 paper)Neuromuscular Disorders (1 paper)Neurology (1 paper)Clinical Journal of the American Society of Nephrology (1 paper)
Partner nations: United States Austria Switzerland

In The Last Decade

Gretchen Golas

23 papers receiving 911 citations

Peers

Countries citing papers authored by Gretchen Golas

Since Specialization

Citations

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

Fields of papers citing papers by Gretchen Golas

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Gretchen Golas, 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 Gretchen Golas Line = papers co-authored together Gretchen Golas 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 23 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine Annals of Clinical and Translational Neurology ·Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh, Karin Fuentes‐Fajardo, David R. Adams, Thomas C. Markello, Gretchen Golas, Dimitre R. Simeonov, Conisha Holloman, Anel Tankovic, Manish Karamchandani, John M. Schreiber, James C. Mullikin, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, Stephen F. Traynelis, William A. Gahl	2014	200
2	Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy Nature Communications ·Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis	2014	103
3	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis Clinical Journal of the American Society of Nephrology ·Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda, Toshiyuki Sakaki, Thierry Vilboux, Carla Ciccone, Ronald L. Horst, Yan Huang, Gretchen Golas, Wendy J. Introne, Marjan Huizing, David R. Adams, Cornelius F. Boerkoel, Michael T. Collins, William A. Gahl	2013	100
4	Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease Molecular Medicine ·Bernadette R. Gochuico, Marjan Huizing, Gretchen Golas, Charles D. Scher, Maria Tsokos, Stacey D. Denver, Melissa Frei‐Jones, William A. Gahl	2011	65
5	The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations American Journal of Medical Genetics Part A ·Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann	2015	50
6	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Genetics in Medicine ·Lauren Lawrence, Murat Sincan, Thomas C. Markello, David R. Adams, Fred A. Gill, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Colleen E. Wahl, Lynne A. Wolfe, William A. Gahl, Cornelius F. Boerkoel	2014	49
7	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration European Journal of Human Genetics ·(unknown), Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl	2011	44
8	Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 Journal of Medical Genetics ·Marjan Huizing, Ben Pederson, Richard A. Hess, Allison Griffin, Amanda Helip‐Wooley, Wendy Westbroek, Heidi Dorward, Kevin O’Brien, Gretchen Golas, Ekaterina Tsilou, JG White, William A. Gahl	2009	41
9	A BLOC‐1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky–Pudlak Syndrome type 8 Pigment Cell & Melanoma Research ·Andrew R. Cullinane, James A. Curry, Gretchen Golas, James Pan, Carmelo Carmona‐Rivera, Richard A. Hess, James G. White, Marjan Huizing, William A. Gahl	2012	30
10	Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent Journal of Investigative Dermatology ·Carmelo Carmona‐Rivera, Gretchen Golas, Richard A. Hess, Nicholas Cardillo, Elijah H. Martin, Kevin O’Brien, Ekaterini Tsilou, Bernadette R. Gochuico, James G. White, Marjan Huizing, William A. Gahl	2011	29
11	Compound heterozygosity for loss-of-functionGARSvariants results in a multisystem developmental syndrome that includes severe growth retardation Human Mutation ·Stephanie N. Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C. Markello, David R. Adams, Camilo Toro, Andrea Gropman, Ya‐Ming Hou, May Christine V. Malicdan, William A. Gahl, Cynthia J. Tifft, Anthony Antonellis	2017	28
12	MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis American Journal of Medical Genetics Part A ·Debra S. Regier, Hyuk‐Joon Kwon, Jean M. Johnston, Gretchen Golas, Sandra Yang, Edythe Wiggs, Yvonne L. Latour, Sarah Thomas, Cindy Portner, David Adams, Gilbert Vézina, Eva H. Baker, Cynthia J. Tifft	2015	27
13	Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM ₁ -gangliosidosis Neurology ·Tyler Mark Pierson, David A. Adams, Thomas C. Markello, Gretchen Golas, Sandra Yang, Murat Sincan, Dimitre R. Simeonov, Karin Fuentes Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, Jamie K. Teer, James C. Mullikin, (unknown), Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft	2012	24
14	MED23‐associated intellectual disability in a non‐consanguineous family American Journal of Medical Genetics Part A ·Aditi Trehan, Jacqueline M. Brady, Valerie V. Maduro, William P. Bone, Yan Huang, Gretchen Golas, Megan Kane, Paul R. Lee, Audrey Thurm, Andrea Gropman, Scott M. Paul, Gilbert Vézina, Thomas C. Markello, William A. Gahl, Cornelius F. Boerkoel, Cynthia J. Tifft	2015	21
15	Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man Neuromuscular Disorders ·Tyler Mark Pierson, Gary Tart, David R. Adams, Camilo Toro, Gretchen Golas, Cynthia J. Tifft, William A. Gahl	2011	20
16	Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1 American Journal of Medical Genetics Part A ·Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C. Markello, Wendy J. Introne, Dawn Maynard, Ben Pederson, Ekaterini Tsilou, Michael B. Jordan, P. Suzanne Hart, James G. White, William A. Gahl, Marjan Huizing	2010	19
17	Novel mutations in the HPS1 gene among Puerto Rican patients Clinical Genetics ·Carmelo Carmona‐Rivera, RA Hess, Kevin O’Brien, Gretchen Golas, Ekaterina Tsilou, JG White, WA Gahl, Marjan Huizing	2010	17
18	Hermansky–Pudlak syndrome type 1 in patients of Indian descent Molecular Genetics and Metabolism ·Lisa M. Vincent, David R. Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin O’Brien, James G. White, Marjan Huizing, William A. Gahl	2009	15
19	Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence Research in Nursing & Health ·Gretchen Golas, Peggy L. Parks	1986	15
20	Abnormal glycosylation in Joubert syndrome type 10 PubMed ·Megan Kane, Mariska Davids, Michelle Bond, (unknown), Megan E. Grout, Ian G. Phelps, Diana R. O’Day, Jennifer C. Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vézina, Meral Gunay‐Aygun, John A. Hanover, Dan Doherty, Miao He, May Christine V. Malicdan, William A. Gahl, Cornelius F. Boerkoel	2017	11

About Gretchen Golas

Gretchen Golas is a scholar working on Cell Biology, Molecular Biology, Genetics, Nutrition and Dietetics and Immunology and Allergy, having authored 23 papers that have together received 920 indexed citations. Recurring topics across this work include melanin and skin pigmentation (7 papers), Biochemical Analysis and Sensing Techniques (3 papers), Cell Adhesion Molecules Research (3 papers), Skin and Cellular Biology Research (2 papers), Genomics and Rare Diseases (2 papers), Lysosomal Storage Disorders Research (2 papers), RNA modifications and cancer (2 papers) and Folate and B Vitamins Research (1 paper). The work is most often cited by research in Cell Biology (199 citations), Genetics (285 citations), Cellular and Molecular Neuroscience (183 citations), Psychiatry and Mental health (130 citations) and Immunology and Allergy (34 citations). Gretchen Golas has collaborated with scholars based in United States, Austria and Switzerland. Frequent co-authors include William A. Gahl, David R. Adams, Cornelius F. Boerkoel, Thomas C. Markello, Marjan Huizing, Cynthia J. Tifft, Tyler Mark Pierson, Conisha Holloman, Stephen F. Traynelis and Hongjie Yuan. Their work appears in journals such as Nature Communications, European Journal of Pediatrics, Neuromuscular Disorders, Neurology and Clinical Journal of the American Society of Nephrology.

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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