Gretchen Golas

4.0k total citations
21 papers, 869 citations indexed

About

Gretchen Golas is a scholar working on Cell Biology, Molecular Biology and Genetics. According to data from OpenAlex, Gretchen Golas has authored 21 papers receiving a total of 869 indexed citations (citations by other indexed papers that have themselves been cited), including 7 papers in Cell Biology, 6 papers in Molecular Biology and 6 papers in Genetics. Recurrent topics in Gretchen Golas's work include melanin and skin pigmentation (5 papers), Genomics and Rare Diseases (3 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Gretchen Golas is often cited by papers focused on melanin and skin pigmentation (5 papers), Genomics and Rare Diseases (3 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Gretchen Golas collaborates with scholars based in United States, Austria and Switzerland. Gretchen Golas's co-authors include William A. Gahl, Cornelius F. Boerkoel, David R. Adams, Thomas C. Markello, Tyler Mark Pierson, Cynthia J. Tifft, Marjan Huizing, Hongjie Yuan, Stephen F. Traynelis and Conisha Holloman and has published in prestigious journals such as Nature Communications, Neurology and Clinical Journal of the American Society of Nephrology.

In The Last Decade

Gretchen Golas

21 papers receiving 861 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-authorship network of co-authors of Gretchen Golas

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

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Abnormal glycosylation in Joubert syndrome type 10 2017 ·PubMed ·Megan Kane, Mariska Davids, Michelle Bond, David R. Adams, Megan E. Grout, Ian G. Phelps, Diana R. O’Day, Jennifer C. Dempsey, (unknown), Gretchen Golas, Gilbert Vézina, Meral Gunay‐Aygun, John A. Hanover, Dan Doherty, Miao He, May Christine V. Malicdan, William A. Gahl, Cornelius F. Boerkoel	11
2	A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers 2016 ·European Journal of Pediatrics ·Marie Helene Schernthaner-Reiter, David R. Adams, Giampaolo Trivellin, Mary Scott Ramnitz, Margarita Raygada, Gretchen Golas, Fábio R. Faucz, Ola Nilsson, Aikaterini A. Nella, (unknown), Maya Lodish, Paul Lee, Cynthia J. Tifft, Thomas C. Markello, William A. Gahl, Constantine A. Stratakis	10
3	MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis 2015 ·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, (unknown), David Adams, Gilbert Vézina, Eva H. Baker, Cynthia J. Tifft	25
4	MED23‐associated intellectual disability in a non‐consanguineous family 2015 ·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	21
5	The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations 2015 ·American Journal of Medical Genetics Part A ·Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, (unknown), Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann	50
6	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience 2014 ·Genetics in Medicine ·(unknown), 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	49
7	Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy 2014 ·Nature Communications ·Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, (unknown), Conisha Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis	103
8	GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine 2014 ·Annals of Clinical and Translational Neurology ·Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh, (unknown), 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	197
9	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis 2013 ·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	100
10	A BLOC‐1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky–Pudlak Syndrome type 8 2012 ·Pigment Cell & Melanoma Research ·Andrew R. Cullinane, (unknown), Gretchen Golas, James Pan, Carmelo Carmona‐Rivera, Richard A. Hess, James G. White, Marjan Huizing, William A. Gahl	30
11	Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM ₁ -gangliosidosis 2012 ·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	23
12	Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease 2011 ·Molecular Medicine ·Bernadette R. Gochuico, Marjan Huizing, Gretchen Golas, Charles D. Scher, Maria Tsokos, (unknown), Melissa Frei‐Jones, William A. Gahl	65
13	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration 2011 ·European Journal of Human Genetics ·(unknown), Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, (unknown), Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, (unknown), Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl	44
14	Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man 2011 ·Neuromuscular Disorders ·Tyler Mark Pierson, (unknown), David R. Adams, Camilo Toro, Gretchen Golas, Cynthia J. Tifft, William A. Gahl	20
15	Novel mutations in the HPS1 gene among Puerto Rican patients 2010 ·Clinical Genetics ·Carmelo Carmona‐Rivera, (unknown), Kevin O’Brien, Gretchen Golas, Ekaterina Tsilou, JG White, (unknown), Marjan Huizing	17
16	Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1 2010 ·American Journal of Medical Genetics Part A ·Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C. Markello, Wendy J. Introne, Dawn Maynard, (unknown), Ekaterini Tsilou, Michael B. Jordan, P. Suzanne Hart, James G. White, William A. Gahl, Marjan Huizing	19
17	Interstitial Lung Disease In Hermansky-Pudlak Syndrome-2 2010 ·Bernadette R. Gochuico, Marjan Huizing, Gretchen Golas, William A. Gahl	1
18	Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 2009 ·Journal of Medical Genetics ·Marjan Huizing, (unknown), Richard A. Hess, Allison Griffin, Amanda Helip‐Wooley, Wendy Westbroek, Heidi Dorward, Kevin O’Brien, Gretchen Golas, Ekaterina Tsilou, JG White, William A. Gahl	41
19	Developing a peer review system. One HMO's experience. 1997 ·PubMed ·(unknown), (unknown), Gretchen Golas, (unknown), (unknown)	1
20	Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence 1986 ·Research in Nursing & Health ·Gretchen Golas, Peggy L. Parks	15

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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