| The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy I Eisenberg, N Avidan, T Potikha, H Hochner, M Chen, T Olender, ... Nature genetics 29 (1), 83-87, 2001 | 592 | 2001 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 186 | 2012 |
| Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy J Ramser, ME Ahearn, C Lenski, KO Yariz, H Hellebrand, M von Rhein, ... The American Journal of Human Genetics 82 (1), 188-193, 2008 | 186 | 2008 |
| Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene AL Rosenbloom, AS Almonte, MR Brown, DA Fisher, L Baumbach, ... The Journal of Clinical Endocrinology & Metabolism 84 (1), 50-57, 1999 | 172 | 1999 |
| Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis MA Carvalho, SM Marsillac, R Karchin, S Manoukian, S Grist, RF Swaby, ... Cancer research 67 (4), 1494-1501, 2007 | 142 | 2007 |
| Inhibition of DNA replication coordinately reduces cellular levels of core and H1 histone mRNAs: requirement for protein synthesis LL Baumbach, F Marashi, M Plumb, G Stein, J Stein Biochemistry 23 (8), 1618-1625, 1984 | 132 | 1984 |
| Regulation of human histone gene expression: transcriptional and posttranscriptional control in the coupling of histone messenger RNA stability with DNA replication LL Baumbach, GS Stein, JL Stein Biochemistry 26 (19), 6178-6187, 1987 | 115 | 1987 |
| Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome TE Miller, E Estrella, RJ Myerburg, JG de Viera, N Moreno, P Rusconi, ... Circulation 109 (24), 3029-3034, 2004 | 103 | 2004 |
| Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy LG Rider, RC Gurley, JP Pandey, I Garcia‐de la Torre, AE Kalovidouris, ... Arthritis & Rheumatism: Official Journal of the American College of …, 1998 | 93 | 1998 |
| A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11. 3–q11. 2 H Kobayashi, L Baumbach, TC Matise, A Schiavi, F Greenberg, ... Human molecular genetics 4 (7), 1213-1216, 1995 | 92 | 1995 |
| Evidence for a BRCA1 founder mutation in families of West African ancestry HC Mefford, L Baumbach, RCK Panguluri, C Whitfield-Broome, C Szabo, ... The American Journal of Human Genetics 65 (2), 575-578, 1999 | 79 | 1999 |
| Familial inclusion body myositis: evidence for autosomal dominant inheritance HE Neville, LL Baumbach, SP Ringel, LS Russo Jr, E Sujansky, ... Neurology 42 (4), 897-897, 1992 | 70 | 1992 |
| Histone Proteins in HeLa S3 Cells Are Synthesized in a Cell Cycle Stage Specific Manner F Marashi, L Baumbach, R Rickles, F Sierra, JL Stein, GS Stein Science 215 (4533), 683-685, 1982 | 62 | 1982 |
| Germline mutations in NF1 patients with malignancies R Wu, C López‐Correa, JL Rutkowski, LL Baumbach, TW Glover, ... Genes, Chromosomes and Cancer 26 (4), 376-380, 1999 | 57 | 1999 |
| Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron’s syndrome) L Baumbach, A Schiavi, R Bartlett, E Perera, J Day, MR Brown, S Stein, ... The Journal of Clinical Endocrinology & Metabolism 82 (2), 444-451, 1997 | 54 | 1997 |
| Methods to capture and sequence large fragments of dna and diagnostic methods for neuromuscular disease JM Hunter, L Baumbach-Reardon US Patent App. 14/217,266, 2014 | 53 | 2014 |
| Novel pathogenic variants and genes for myopathies identified by whole exome sequencing JM Hunter, ME Ahearn, CD Balak, WS Liang, A Kurdoglu, JJ Corneveaux, ... Molecular genetics & genomic medicine 3 (4), 283-301, 2015 | 52 | 2015 |
| X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping D Dressman, ME Ahearn, KO Yariz, H Basterrecha, F Martínez, F Palau, ... Genetics in Medicine 9 (1), 52-60, 2007 | 36 | 2007 |
| Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. PA Ward, JF Hejtmancik, JA Witkowski, LL Baumbach, S Gunnell, J Speer, ... American journal of human genetics 44 (2), 270, 1989 | 36 | 1989 |
| Requirement of protein synthesis for the coupling of histone mRNA levels and DNA replication S Helms, L Baumbach, G Stein, J Stein FEBS letters 168 (1), 65-69, 1984 | 29 | 1984 |
Kemal YarizProfessor of Biochemistry, New York College of Podiatric MedicineVerified email at nycpm.edu
