| Functions of plasmalogen lipids in health and disease NE Braverman, AB Moser Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012 | 1067 | 2012 |
| Phenylalanine hydroxylase deficiency: diagnosis and management guideline J Vockley, HC Andersson, KM Antshel, NE Braverman, BK Burton, ... Genetics in medicine 16 (2), 188-200, 2014 | 629 | 2014 |
| Peroxisome biogenesis disorders SJ Steinberg, G Dodt, GV Raymond, NE Braverman, AB Moser, ... Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1733-1748, 2006 | 596 | 2006 |
| Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata N Braverman, G Steel, C Obie, A Moser, H Moser, SJ Gould, D Valle Nature genetics 15 (4), 369-376, 1997 | 522 | 1997 |
| Using whole-exome sequencing to identify inherited causes of autism WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ... Neuron 77 (2), 259-273, 2013 | 514 | 2013 |
| Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders G Dodt, N Braverman, C Wong, A Moser, HW Moser, P Watkins, D Valle, ... Nature genetics 9 (2), 115-125, 1995 | 509 | 1995 |
| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 401 | 2004 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 301 | 2014 |
| Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome N Braverman, P Lin, FF Moebius, C Obie, A Moser, H Glossmann, ... Nature genetics 22 (3), 291-294, 1999 | 301 | 1999 |
| An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes N Braverman, G Dodt, SJ Gould, D Valle Human molecular genetics 7 (8), 1195-1205, 1998 | 254 | 1998 |
| VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis R Hua, D Cheng, É Coyaud, S Freeman, E Di Pietro, Y Wang, A Vissa, ... Journal of Cell Biology 216 (2), 367-377, 2017 | 253 | 2017 |
| Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines NE Braverman, GV Raymond, WB Rizzo, AB Moser, ME Wilkinson, ... Molecular genetics and metabolism 117 (3), 313-321, 2016 | 241 | 2016 |
| The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. T Yahraus, N Braverman, G Dodt, JE Kalish, JC Morrell, HW Moser, ... The EMBO journal 15 (12), 2914-2923, 1996 | 211 | 1996 |
| Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives NE Braverman, MD D'Agostino, GE MacLean Developmental disabilities research reviews 17 (3), 187-196, 2013 | 185 | 2013 |
| Defective membrane expression of the Na+-HCO3− cotransporter NBCe1 is associated with familial migraine M Suzuki, W Van Paesschen, I Stalmans, S Horita, H Yamada, ... Proceedings of the National Academy of Sciences 107 (36), 15963-15968, 2010 | 165 | 2010 |
| Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, ... Human mutation 20 (4), 284-297, 2002 | 159 | 2002 |
| Peroxisome-mediated metabolism is required for immune response to microbial infection F Di Cara, A Sheshachalam, NE Braverman, RA Rachubinski, ... Immunity 47 (1), 93-106. e7, 2017 | 138 | 2017 |
| Zellweger spectrum disorder SJ Steinberg, GV Raymond, NE Braverman, AB Moser | 134* | 2020 |
| The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum S Steinberg, L Chen, L Wei, A Moser, H Moser, G Cutting, N Braverman Molecular genetics and metabolism 83 (3), 252-263, 2004 | 133 | 2004 |
| CHILD syndrome caused by deficiency of 3β‐hydroxysteroid‐Δ8, Δ7‐isomerase DK Grange, LE Kratz, NE Braverman, RI Kelley American journal of medical genetics 90 (4), 328-335, 2000 | 131 | 2000 |
Ann B MoserKennedy Krieger InstituteVerified email at kennedykrieger.org
