The genetic basis of DOORS syndrome: an exome-sequencing study
Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof
Published in Lancet neurology (2014)
Published in Lancet neurology (2014)
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Journal Article
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
El-Hattab, Ayman W., Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R., Bawle, Erawati V., Adams, Darius J., Wahl, Erica, Kobori, Joyce A., Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun
Published in Genetics in medicine (01.01.2010)
Published in Genetics in medicine (01.01.2010)
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CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy
Mirzaa, Ghayda M., MD, Paciorkowski, Alex R., MD, Marsh, Eric D., MD, Berry-Kravis, Elizabeth M., MD, PhD, Medne, Livija, MS, Grix, Art, MD, Wirrell, Elaine C., MD, Powell, Berkley R., MD, Nickels, Katherine C., MD, Burton, Barbara, MD, Paras, Andrea, MS, Kim, Katherine, MS, Chung, Wendy, MD, Dobyns, William B., MD, Das, Soma, PhD
Published in Pediatric neurology (01.05.2013)
Published in Pediatric neurology (01.05.2013)
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Journal Article
Clinical utility of chromosomal microarray analysis
Ellison, Jay W, Ravnan, J Britt, Rosenfeld, Jill A, Morton, S Annie, Neill, Nicholas J, Williams, Marc S, Lewis, Jodi, Torchia, Beth S, Walker, Cathryn, Traylor, Ryan N, Moles, Kimberly, Miller, Elizabeth, Lantz, Jennifer, Valentin, Caitlin, Minier, Sara L, Leiser, Kimberly, Powell, Berkley R, Wilks, Timothy M, Shaffer, Lisa G
Published in Pediatrics (Evanston) (01.11.2012)
Published in Pediatrics (Evanston) (01.11.2012)
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Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
Alfardan, Jaffar, Mohsen, Al-Walid, Copeland, Sara, Ellison, Jay, Keppen-Davis, Laura, Rohrbach, Marianne, Powell, Berkley R., Gillis, Jane, Matern, Dietrich, Kant, Jeffrey, Vockley, Jerry
Published in Molecular genetics and metabolism (01.08.2010)
Published in Molecular genetics and metabolism (01.08.2010)
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Journal Article
Dystrophin expression in the human retina is required for normal function as defined by electroretinography
Pillers, De-Ann M, Bulman, Dennis E, Weleber, Richard G, Sigesmund, Dayle A, Musarella, Maria A, Powell, Berkley R, Murphey, William H, Westall, Carol, Panton, Carole, Becker, Laurence E, Worton, Ronald G, Ray, Peter N
Published in Nature genetics (01.05.1993)
Published in Nature genetics (01.05.1993)
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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
NISHIMURA, Darryl Y, SEARBY, Charles C, HAIDER, Neena B, KWITEK-BLACK, Anne E, LIHUA YING, DUHL, David M, GORMAN, Susan W, HEON, Elise, IANNACCONE, Alessandro, BONNEAU, Dominique, BIESECKER, Leslie G, JACOBSON, Samuel G, CARMI, Rivka, STONE, Edwin M, SHEFFIELD, Val C, ELBEDOUR, Khalil, VAN MALDERGEM, Lionel, FULTON, Anne B, LAM, Byron L, POWELL, Berkley R, SWIDERSKI, Ruth E, BUGGE, Kevin E
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
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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
Han, Xiao‐Dong, Powell, Berkley R., Phalin, Judith L., Chehab, Farid F.
Published in American journal of medical genetics. Part A (01.07.2006)
Published in American journal of medical genetics. Part A (01.07.2006)
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Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene
Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Journal Article
Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12
Ehtesham, Nadia, Cantor, Rita M., King, Lily M., Reinker, Kent, Powell, Berkley R., Shanske, Alan, Unger, Sheila, Rimoin, David L., Cohn, Daniel H.
Published in American journal of human genetics (01.10.2002)
Published in American journal of human genetics (01.10.2002)
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Journal Article
Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del): Analysis of a family and prenatal testing
Hong, Young Soo, Kerr, Douglas S, Liu, Te-Chung, Lusk, Marilyn, Powell, Berkley R, Patel, Mulchand S
Published in Biochimica et biophysica acta (31.12.1997)
Published in Biochimica et biophysica acta (31.12.1997)
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Journal Article
Clinical diagnoses that overlap with choroideremia
Lee, Thomas K.M., McTaggart, Kerry E., Sieving, Paul A., Heckenlively, John R., Levin, Alex V., Greenberg, Jacquie, Weleber, Richard G., Tong, Patrick Y., Anhalt, Edward F., Powell, Berkley R., MacDonald, Ian M.
Published in Canadian journal of ophthalmology (01.08.2003)
Published in Canadian journal of ophthalmology (01.08.2003)
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Journal Article
Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy
Sigesmund, Dayle A., Weleber, Richard G., Pillers, De-Ann M., Westall, Carol A., Panton, Carole M., Powell, Berkley R., Héon, Elise, Murphey, William H., Musarella, Maria A., Ray, Peter N.
Published in Ophthalmology (Rochester, Minn.) (01.05.1994)
Published in Ophthalmology (Rochester, Minn.) (01.05.1994)
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Journal Article
Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome
Shim, Walton K.T, Derieg, Marta, Powell, Berkley R, Hsia, Y.Edward
Published in Journal of pediatric surgery (01.12.1999)
Published in Journal of pediatric surgery (01.12.1999)
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Journal Article
Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency
Kennaway, N G, Carrero-Valenzuela, R D, Ewart, G, Balan, V K, Lightowlers, R, Zhang, Y Z, Powell, B R, Capaldi, R A, Buist, N R
Published in Pediatric research (01.11.1990)
Published in Pediatric research (01.11.1990)
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