Berkley R. Powell

2.7k citations

32 papers · 1.7k indexed · h-index 22

Clinical Biochemistry top 1%
- Metabolism and Genetic Disorders 9
Genetics top 5%
- Genomics and Rare Diseases 4
- Connective tissue disorders research 2
Molecular Biology top 10%
- Muscle Physiology and Disorders 5
- Retinal Development and Disorders 4
- Mitochondrial Function and Pathology 3
- Biochemical and Molecular Research 2
Cellular and Molecular Neuroscience top 5%
Immunology top 10%
Rheumatology
- Folate and B Vitamins Research 4

Co-authors: Neil R.M. Buist Peter Stenzel Jianzhou Wang Lisa Schwartz Eric P. Hoffman Cecilia Rojas Robert H. Brown Richard I. Kelley
Cited by: Clinical Biochemistry Genetics Molecular Biology
Journals: Nature (1 paper)Nature Genetics (1 paper)Neurology (1 paper)
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

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

All Works

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20 of 20 papers shown

#	Work
1	CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy 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,Katherine Kim,Wendy K. Chung,William B. Dobyns,Soma Das	2013	37
2	Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening Molecular Genetics and Metabolism ·Jaffar Alfardan,Al‐Walid Mohsen,Sara Copeland,Jay W. Ellison,Laura Keppen-Davis,Marianne Rohrbach,Berkley R. Powell,Jane Gillis,Dietrich Matern,Jeffrey A. Kant,Jerry Vockley	2010	28
3	Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Genetics in Medicine ·Ayman W. El‐Hattab,Fangyuan Li,Joseph Shen,Berkley R. Powell,Erawati V. Bawle,Darius J. Adams,Erica Wahl,Joyce A. Kobori,Brett H. Graham,Fernando Scaglia,Lee‐Jun Wong	2010	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 American Journal of Medical Genetics Part A ·Xiaodong Han,Berkley R. Powell,Judith Phalin,Farid Chehab	2006	32
5	Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene The American Journal of Human Genetics ·Daniel H. Cohn,Nadia Ehtesham,Deborah Krakow,Sheila Unger,Alan Shanske,Kent A. Reinker,Berkley R. Powell,David L. Rimoin	2003	41
6	Clinical diagnoses that overlap with choroideremia Canadian Journal of Ophthalmology ·Thomas K.M. Lee,Kerry E. McTaggart,Paul A. Sieving,John R. Heckenlively,Alex V. Levin,Jacquie Greenberg,Richard G. Weleber,Patrick Tong,Edward F. Anhalt,Berkley R. Powell,Ian M. MacDonald	2003	21
7	Dyggve-Melchior-Clausen Syndrome: Report of Seven Patients With the Smith-McCort Variant and Review of the Literature Journal of Pediatric Orthopaedics ·Catherine M. Burns,Berkley R. Powell,Y. Edward Hsia,Kent A. Reinker	2003	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 The American Journal of Human Genetics ·Nadia Ehtesham,Rita M. Cantor,Lily King,Kent A. Reinker,Berkley R. Powell,Alan Shanske,Sheila Unger,David L. Rimoin,Daniel H. Cohn	2002	22
9	Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome Journal of Pediatric Surgery ·Walton K.T. Shim,Marta Derieg,Berkley R. Powell,Y. Edward Hsia	1999	13
10	Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 The American Journal of Human Genetics ·Deborah Krakow,Kent A. Reinker,Berkley R. Powell,Rita M. Cantor,Mary Ann Priore,Ann Garber,Ralph S. Lachman,David L. Rimoin,Daniel H. Cohn	1998	41
11	Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del) Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Young‐Soo Hong,Douglas S. Kerr,Te-Chung Liu,Marilyn M Lusk,Berkley R. Powell,Mulchand S. Patel	1997	44
12	Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency The Journal of Pediatrics ·Ajey Jain,Neil R.M. Buist,Nancy G. Kennaway,Berkley R. Powell,Peter A.M. Auld,Johan Mårtensson	1994	22
13	Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy Ophthalmology ·Dayle Sigesmund,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	1994	67
14	Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome The Journal of Pediatrics ·Berkley R. Powell,Sarojini S. Budden,Neil R.M. Buist	1993	12
15	X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria The Journal of Pediatrics ·Richard I. Kelley,John P. Cheatham,Bernard J. Clark,Michael A. Nigro,Berkley R. Powell,Geoffrey Sherwood,John T. Sladky,William P. Swisher	1991	206
16	A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis Nature ·Cecilia Rojas,Jianzhou Wang,Lisa Schwartz,Eric P. Hoffman,Berkley R. Powell,Robert H. Brown	1991	250
17	Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports Clinical Genetics ·Terrence Wardinsky,Roberta A Pagon,Berkley R. Powell,Barbara McGillivray,Mark Stephan,J. Zonana,Ann B. Moser	1990	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 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	1990	27
19	Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. PubMed ·D.-A. M. Pillers,Jeffrey A. Towbin,Jeffrey S. Chamberlain,Darong Wu,Joel E. Ranier,Berkley R. Powell,Edward R.B. McCabe	1990	19
20	An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy The Journal of Pediatrics ·Berkley R. Powell,Neil R.M. Buist,Peter Stenzel	1982	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), Genomics and Rare Diseases (4 papers), Retinal Development and Disorders (4 papers), Folate and B Vitamins Research (4 papers), Mitochondrial Function and Pathology (3 papers), Biochemical and Molecular Research (2 papers) and Connective tissue disorders research (2 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.

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