Berkley R. Powell

2.7k citations

32 papers · 1.7k indexed · h-index 22

Molecular Biology top 10%
Genetics top 5%
Clinical Biochemistry top 1%
Cellular and Molecular Neuroscience top 5%
Immunology top 10%

Co-authors: Neil R.M. Buist Peter Stenzel Jianzhou Wang Lisa Schwartz Eric P. Hoffman Cecilia Rojas Robert H. Brown Richard I. Kelley
Topics: Metabolism and Genetic Disorders (9 papers)Muscle Physiology and Disorders (5 papers)Genomics and Rare Diseases (4 papers)
Cited by: Clinical Biochemistry Genetics Molecular Biology
Journals: Nature Nature Genetics Neurology
Partner nations: United States Canada South Sudan

In The Last Decade

Berkley R. Powell

32 papers receiving 1.7k citations

Peers

Countries citing papers authored by Berkley R. Powell

Since Specialization

Citations

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

Fields of papers citing papers by Berkley R. Powell

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Berkley R. Powell. 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 Berkley R. Powell. The network helps show where Berkley R. Powell may publish in the future.

Co-authorship network of co-authors of Berkley R. Powell

This figure shows the co-authorship network connecting the top 25 collaborators of Berkley R. Powell. A scholar is included among the top collaborators of Berkley R. Powell 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 Berkley R. Powell. Berkley R. Powell 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	CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy 2013 ·Pediatric Neurology ·Ghayda Mirzaa,Alex R. Paciorkowski,Eric D. Marsh,Elizabeth Berry‐Kravis,Līvija Medne,Art Grix,Elaine Wirrell,Berkley R. Powell,Katherine Nickels,Barbara K. Burton,Andrea Paras,(unknown),Wendy K. Chung,William B. Dobyns,Soma Das	37
2	Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening 2010 ·Molecular Genetics and Metabolism ·(unknown),Al‐Walid Mohsen,Sara Copeland,Jay W. Ellison,(unknown),Marianne Rohrbach,Berkley R. Powell,Jane Gillis,Dietrich Matern,Jeffrey A. Kant,Jerry Vockley	28
3	Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects 2010 ·Genetics in Medicine ·Ayman W. El‐Hattab,Fangyuan Li,Joseph Shen,Berkley R. Powell,Erawati V. Bawle,Darius J. Adams,(unknown),Joyce A. Kobori,Brett H. Graham,Fernando Scaglia,Lee‐Jun Wong	81
4	Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high‐functioning fragile X male 2006 ·American Journal of Medical Genetics Part A ·Xiaodong Han,Berkley R. Powell,(unknown),Farid Chehab	32
5	Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene 2003 ·The American Journal of Human Genetics ·Daniel H. Cohn,(unknown),Deborah Krakow,Sheila Unger,Alan Shanske,Kent A. Reinker,Berkley R. Powell,David L. Rimoin	41
6	Clinical diagnoses that overlap with choroideremia 2003 ·Canadian Journal of Ophthalmology ·(unknown),(unknown),Paul A. Sieving,John R. Heckenlively,Alex V. Levin,Jacquie Greenberg,Richard G. Weleber,Patrick Tong,(unknown),Berkley R. Powell,Ian M. MacDonald	21
7	Dyggve-Melchior-Clausen Syndrome: Report of Seven Patients With the Smith-McCort Variant and Review of the Literature 2003 ·Journal of Pediatric Orthopaedics ·Catherine M. Burns,Berkley R. Powell,Y. Edward Hsia,Kent A. Reinker	10
8	Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12 2002 ·The American Journal of Human Genetics ·(unknown),Rita M. Cantor,Lily King,Kent A. Reinker,Berkley R. Powell,Alan Shanske,Sheila Unger,David L. Rimoin,Daniel H. Cohn	22
9	Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome 1999 ·Journal of Pediatric Surgery ·Walton K.T. Shim,(unknown),Berkley R. Powell,Y. Edward Hsia	13
10	Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 1998 ·The American Journal of Human Genetics ·Deborah Krakow,Kent A. Reinker,Berkley R. Powell,Rita M. Cantor,(unknown),Ann Garber,(unknown),David L. Rimoin,(unknown)	41
11	Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del) 1997 ·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Young‐Soo Hong,Douglas S. Kerr,(unknown),Marilyn M Lusk,Berkley R. Powell,Mulchand S. Patel	44
12	Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency 1994 ·The Journal of Pediatrics ·(unknown),Neil R.M. Buist,Nancy G. Kennaway,Berkley R. Powell,Peter A.M. Auld,Johan Mårtensson	22
13	Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy 1994 ·Ophthalmology ·(unknown),Richard G. Weleber,De‐Ann M. Pillers,Carol A. Westall,Carole M. Panton,Berkley R. Powell,Elise Héon,William H. Murphey,Maria A. Musarella,Peter N. Ray	67
14	Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome 1993 ·The Journal of Pediatrics ·Berkley R. Powell,(unknown),Neil R.M. Buist	12
15	X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria 1991 ·The Journal of Pediatrics ·Richard I. Kelley,John P. Cheatham,Bernard J. Clark,Michael A. Nigro,Berkley R. Powell,Geoffrey Sherwood,John T. Sladky,(unknown)	206
16	A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis 1991 ·Nature ·Cecilia Rojas,Jianzhou Wang,Lisa Schwartz,Eric P. Hoffman,Berkley R. Powell,Robert H. Brown	250
17	Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports 1990 ·Clinical Genetics ·(unknown),Roberta A Pagon,Berkley R. Powell,Barbara McGillivray,Mark Stephan,J. Zonana,Ann B. Moser	36
18	Åland Island eye disease (Forsius‐Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia 1990 ·American Journal of Medical Genetics ·De‐Ann M. Pillers,Richard G. Weleber,Berkley R. Powell,Cheryl E. Hanna,R. Ellen Magenis,Neil R.M. Buist	27
19	Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. 1990 ·PubMed ·D.-A. M. Pillers,Jeffrey A. Towbin,Jeffrey S. Chamberlain,Darong Wu,(unknown),Berkley R. Powell,Edward R.B. McCabe	19
20	An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy 1982 ·The Journal of Pediatrics ·Berkley R. Powell,Neil R.M. Buist,Peter Stenzel	309

About Berkley R. Powell

Berkley R. Powell is a scholar working on Clinical Biochemistry, Nephrology and Genetics, having authored 32 papers that have together received 1.7k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (9 papers), Muscle Physiology and Disorders (5 papers) and Genomics and Rare Diseases (4 papers). The work is most often cited by research in Clinical Biochemistry (290 citations), Genetics (428 citations) and Molecular Biology (1.0k citations). Berkley R. Powell has collaborated with scholars based in United States, Canada and South Sudan. Frequent co-authors include Neil R.M. Buist, Peter Stenzel, Jianzhou Wang, Lisa Schwartz, Eric P. Hoffman, Cecilia Rojas, Robert H. Brown, Richard I. Kelley, Geoffrey Sherwood and John P. Cheatham. Their work appears in journals such as Nature, Nature 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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