| Year |
Citation |
Score |
| 2020 |
Martin CL, Wain KE, Oetjens MT, Tolwinski K, Palen E, Hare-Harris A, Habegger L, Maxwell EK, Reid JG, Walsh LK, Myers SM, Ledbetter DH. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. Jama Psychiatry. PMID 32697297 DOI: 10.1001/Jamapsychiatry.2020.2159 |
0.35 |
|
| 2020 |
Buchanan AH, Lester Kirchner H, Schwartz MLB, Kelly MA, Schmidlen T, Jones LK, Hallquist MLG, Rocha H, Betts M, Schwiter R, Butry L, Lazzeri AL, Frisbie LR, Rahm AK, Hao J, ... ... Ledbetter DH, et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32601386 DOI: 10.1038/S41436-020-0876-4 |
0.317 |
|
| 2020 |
Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Research : Official Journal of the International Society For Autism Research. PMID 32597026 DOI: 10.1002/Aur.2332 |
0.396 |
|
| 2020 |
Finucane BM, Myers SM, Martin CL, Ledbetter DH. Long overdue: including adults with brain disorders in precision health initiatives. Current Opinion in Genetics & Development. 65: 47-52. PMID 32544666 DOI: 10.1016/J.Gde.2020.05.001 |
0.39 |
|
| 2020 |
Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. Insufficient Evidence for "Autism-Specific" Genes. American Journal of Human Genetics. PMID 32359473 DOI: 10.1016/J.Ajhg.2020.04.004 |
0.387 |
|
| 2019 |
Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. Nature Communications. 10: 4897. PMID 31653860 DOI: 10.1038/S41467-019-12869-0 |
0.413 |
|
| 2019 |
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, ... ... Ledbetter DH, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nature Medicine. PMID 31548702 DOI: 10.1038/S41591-019-0581-5 |
0.391 |
|
| 2019 |
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31182824 DOI: 10.1038/S41436-019-0554-6 |
0.388 |
|
| 2019 |
Martin C, Finucane B, Taylor CM, Challman TD, Luca AMD, Wain K, Myers S, Ledbetter DH. Shared Genomic Contributors To Developmental And Neuropsychiatric Disorders European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.07.042 |
0.334 |
|
| 2018 |
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, et al. ClinGen's GenomeConnect registry enables patient-centered data sharing. Human Mutation. 39: 1668-1676. PMID 30311371 DOI: 10.1002/Humu.23633 |
0.309 |
|
| 2018 |
Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, ... ... Ledbetter DH, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. Journal of the American College of Cardiology. 72: 662-680. PMID 30071997 DOI: 10.1016/J.Jacc.2018.05.044 |
0.359 |
|
| 2018 |
Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, ... ... Ledbetter DH, et al. Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes. American Journal of Human Genetics. 102: 874-889. PMID 29727688 DOI: 10.1016/J.Ajhg.2018.03.012 |
0.327 |
|
| 2018 |
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, Gleeson JG, ... ... Ledbetter DH, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29671837 DOI: 10.1038/Gim.2018.8 |
0.343 |
|
| 2017 |
Martin CL, Ledbetter DH. Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders. Jama. 317: 2545-2546. PMID 28654998 DOI: 10.1097/01.Ogx.0000526707.08622.D5 |
0.381 |
|
| 2017 |
Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, et al. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28471438 DOI: 10.1038/Gim.2017.40 |
0.319 |
|
| 2016 |
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, ... ... Ledbetter DH, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science (New York, N.Y.). 354. PMID 28008010 DOI: 10.1126/Science.Aaf7000 |
0.31 |
|
| 2016 |
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, ... ... Ledbetter DH, et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science (New York, N.Y.). 354. PMID 28008009 DOI: 10.1126/Science.Aaf6814 |
0.35 |
|
| 2016 |
Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, et al. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. Journal of Autism and Developmental Disorders. PMID 27207092 DOI: 10.1007/S10803-016-2807-4 |
0.384 |
|
| 2016 |
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, ... ... Ledbetter DH, et al. Recommendations for the integration of genomics into clinical practice. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27171546 DOI: 10.1038/Gim.2016.17 |
0.336 |
|
| 2016 |
Gonzalez-Mantilla AJ, Moreno-De-Luca A, Ledbetter DH, Martin CL. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. Jama Psychiatry. PMID 26817790 DOI: 10.1001/Jamapsychiatry.2015.2692 |
0.41 |
|
| 2015 |
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, ... ... Ledbetter DH, et al. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. Jama Psychiatry. 1-11. PMID 26629640 DOI: 10.1001/Jamapsychiatry.2015.2123 |
0.322 |
|
| 2015 |
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Ledbetter DH, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016 |
0.789 |
|
| 2015 |
Kirkpatrick BE, Riggs ER, Azzariti DR, Miller VR, Ledbetter DH, Miller DT, Rehm H, Martin CL, Faucett WA. GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge. Human Mutation. PMID 26178529 DOI: 10.1002/Humu.22838 |
0.34 |
|
| 2015 |
Finucane B, Challman TD, Martin CL, Ledbetter DH. Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26158229 DOI: 10.1038/Gim.2015.92 |
0.353 |
|
| 2015 |
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, ... ... Ledbetter DH, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26066539 DOI: 10.1038/Gim.2015.78 |
0.425 |
|
| 2015 |
Martin CL, Kirkpatrick BE, Ledbetter DH. Copy Number Variants, Aneuploidies, and Human Disease. Clinics in Perinatology. 42: 227-242. PMID 26042902 DOI: 10.1016/J.Clp.2015.03.001 |
0.414 |
|
| 2015 |
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. The New England Journal of Medicine. 372: 2235-42. PMID 26014595 DOI: 10.1056/Nejmsr1406261 |
0.329 |
|
| 2015 |
Martin CL, Ledbetter DH. Molecular cytogenetic analysis of telomere rearrangements. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 84: 8.11.1-8.11.15. PMID 25599669 DOI: 10.1002/0471142905.Hg0811S84 |
0.441 |
|
| 2015 |
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, et al. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry. 77: 775-84. PMID 25534755 DOI: 10.1016/J.Biopsych.2014.09.017 |
0.768 |
|
| 2015 |
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, ... Ledbetter DH, et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. Jama Psychiatry. 72: 119-26. PMID 25493922 DOI: 10.1001/Jamapsychiatry.2014.2147 |
0.72 |
|
| 2015 |
Wilson RD, Ledbetter DH, Pergament E. Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome-wide testing for prenatally identified fetal congenital anomalies. Prenatal Diagnosis. 35: 19-22. PMID 25393822 DOI: 10.1002/Pd.4531 |
0.301 |
|
| 2015 |
Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, ... ... Ledbetter DH, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biological Psychiatry. 77: 785-93. PMID 25064419 DOI: 10.1016/J.Biopsych.2014.04.021 |
0.383 |
|
| 2014 |
Cronin RM, Field JR, Bradford Y, Shaffer CM, Carroll RJ, Mosley JD, Bastarache L, Edwards TL, Hebbring SJ, Lin S, Hindorff LA, Crane PK, Pendergrass SA, Ritchie MD, Crawford DC, ... ... Ledbetter DH, et al. Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Frontiers in Genetics. 5: 250. PMID 25177340 DOI: 10.3389/Fgene.2014.00250 |
0.31 |
|
| 2014 |
Riggs ER, Ledbetter DH, Martin CL. Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. Current Genetic Medicine Reports. 2: 146-150. PMID 25152847 DOI: 10.1007/S40142-014-0048-4 |
0.35 |
|
| 2014 |
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/Aur.1378 |
0.788 |
|
| 2014 |
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, ... ... Ledbetter DH, et al. Characterizing genetic variants for clinical action. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166: 93-104. PMID 24634402 DOI: 10.1002/Ajmg.C.31386 |
0.362 |
|
| 2014 |
Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, et al. The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors. Frontiers in Genetics. 5: 16. PMID 24575121 DOI: 10.3389/Fgene.2014.00016 |
0.311 |
|
| 2014 |
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/Ejhg.2013.135 |
0.352 |
|
| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Ledbetter DH, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.746 |
|
| 2013 |
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74: 576-84. PMID 23746936 DOI: 10.1016/J.Biopsych.2013.04.018 |
0.759 |
|
| 2013 |
Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. The Lancet. Neurology. 12: 406-14. PMID 23518333 DOI: 10.1016/S1474-4422(13)70011-5 |
0.727 |
|
| 2013 |
Riggs ER, Wain KE, Riethmaier D, Savage M, Smith-Packard B, Kaminsky EB, Rehm HL, Martin CL, Ledbetter DH, Faucett WA. Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting. Human Mutation. 34: 915-9. PMID 23463607 DOI: 10.1002/Humu.22306 |
0.308 |
|
| 2013 |
Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, et al. Implementing genomic medicine in the clinic: the future is here. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 258-67. PMID 23306799 DOI: 10.1097/01.Ogx.0000435523.89711.77 |
0.336 |
|
| 2013 |
Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Molecular Psychiatry. 18: 1090-5. PMID 23044707 DOI: 10.1038/Mp.2012.138 |
0.741 |
|
| 2012 |
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, et al. Diagnostic interpretation of array data using public databases and internet sources. Human Mutation. 33: 930-40. PMID 26285306 DOI: 10.1002/Humu.22049 |
0.304 |
|
| 2012 |
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, ... ... Ledbetter DH, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine. 367: 2175-84. PMID 23215555 DOI: 10.1097/01.Ogx.0000429294.57890.B8 |
0.408 |
|
| 2012 |
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, et al. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism. 3: 9. PMID 23067556 DOI: 10.1186/2040-2392-3-9 |
0.77 |
|
| 2012 |
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, ... ... Ledbetter DH, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics. 49: 660-8. PMID 23054248 DOI: 10.1136/Jmedgenet-2012-101203 |
0.417 |
|
| 2012 |
Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM. The introduction of arrays in prenatal diagnosis: a special challenge. Human Mutation. 33: 923-9. PMID 22508381 DOI: 10.1002/Humu.22050 |
0.361 |
|
| 2012 |
Moreno-De-Luca A, Ledbetter DH, Martin CL. Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies. The Lancet. Neurology. 11: 283-92. PMID 22261432 DOI: 10.1016/S1474-4422(11)70287-3 |
0.374 |
|
| 2012 |
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Towards an evidence-based process for the clinical interpretation of copy number variation. Clinical Genetics. 81: 403-12. PMID 22097934 DOI: 10.1111/J.1399-0004.2011.01818.X |
0.38 |
|
| 2011 |
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, ... ... Ledbetter DH, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 777-84. PMID 21844811 DOI: 10.1097/Gim.0B013E31822C79F9 |
0.734 |
|
| 2011 |
Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Human Molecular Genetics. 20: 3769-78. PMID 21729882 DOI: 10.1093/Hmg/Ddr293 |
0.488 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Ledbetter DH, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.8 |
|
| 2011 |
Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. Journal of Medical Genetics. 48: 141-4. PMID 20972249 DOI: 10.1136/Jmg.2010.082263 |
0.369 |
|
| 2011 |
Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, ... ... Ledbetter DH, et al. Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630)) American Journal of Human Genetics. 88. DOI: 10.1016/J.Ajhg.2010.12.005 |
0.726 |
|
| 2010 |
Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, ... ... Ledbetter DH, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American Journal of Human Genetics. 87: 618-30. PMID 21055719 DOI: 10.1016/J.Ajhg.2010.10.004 |
0.747 |
|
| 2010 |
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, ... ... Ledbetter DH, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics. 86: 749-64. PMID 20466091 DOI: 10.1016/J.Ajhg.2010.04.006 |
0.449 |
|
| 2009 |
Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Human Molecular Genetics. 18: 2957-62. PMID 19443486 DOI: 10.1093/Hmg/Ddp233 |
0.46 |
|
| 2009 |
Ledbetter DH. Chaos in the embryo. Nature Medicine. 15: 490-1. PMID 19424206 DOI: 10.1038/Nm0509-490 |
0.333 |
|
| 2009 |
Labuda M, Fujiwara TM, Ross MV, Morgan K, Garcia‐Heras J, Ledbetter DH, Hughes MR, Glorieux FH. Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. Journal of Bone and Mineral Research. 7: 1447-1453. PMID 1336301 DOI: 10.1002/Jbmr.5650071212 |
0.371 |
|
| 2008 |
Ledbetter DH. Cytogenetic technology--genotype and phenotype. The New England Journal of Medicine. 359: 1728-30. PMID 18784093 DOI: 10.1056/Nejme0806570 |
0.375 |
|
| 2008 |
Das S, Bale SJ, Ledbetter DH. Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 332-6. PMID 18496031 DOI: 10.1097/Gim.0B013E318172838D |
0.352 |
|
| 2008 |
Ledbetter DH. Gene patenting and licensing: the role of academic researchers and advocacy groups. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 314-9. PMID 18496028 DOI: 10.1097/Gim.0B013E3181729Dab |
0.325 |
|
| 2008 |
Ledbetter DH, Faucett WA. Issues in genetic testing for ultra-rare diseases: background and introduction. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 309-13. PMID 18496027 DOI: 10.1097/Gim.0B013E3181729D99 |
0.31 |
|
| 2008 |
Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. American Journal of Human Genetics. 82: 398-410. PMID 18252220 DOI: 10.1016/J.Ajhg.2007.10.013 |
0.454 |
|
| 2008 |
Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics. 82: 150-9. PMID 18179893 DOI: 10.1016/J.Ajhg.2007.09.005 |
0.429 |
|
| 2008 |
Mulley JC, Turner AM, Gedeon AK, Berdoukas VA, Huang THM, Ledbetter DH, Grierson H, Purtilo DT. X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male. Clinical Genetics. 42: 76-79. PMID 1358486 DOI: 10.1111/J.1399-0004.1992.Tb03143.X |
0.349 |
|
| 2007 |
Ledbetter DH, Martin CL. Cryptic telomere imbalance: a 15-year update. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 145: 327-34. PMID 17910073 DOI: 10.1002/Ajmg.C.30149 |
0.443 |
|
| 2007 |
Martin CL, Nawaz Z, Baldwin EL, Wallace EJ, Justice AN, Ledbetter DH. The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 566-73. PMID 17873644 DOI: 10.1097/Gim.0B013E318149E1Fc |
0.43 |
|
| 2007 |
Martin CL, Ledbetter DH. Autism and cytogenetic abnormalities: solving autism one chromosome at a time. Current Psychiatry Reports. 9: 141-7. PMID 17389126 DOI: 10.1007/S11920-007-0084-9 |
0.461 |
|
| 2007 |
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, ... ... Ledbetter D, et al. Strong association of de novo copy number mutations with autism. Science (New York, N.Y.). 316: 445-9. PMID 17363630 DOI: 10.1126/Science.1138659 |
0.449 |
|
| 2007 |
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, ... ... Ledbetter DH, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985 |
0.476 |
|
| 2006 |
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. Journal of Medical Genetics. 43: 478-89. PMID 16199540 DOI: 10.1136/Jmg.2005.036350 |
0.326 |
|
| 2006 |
Sebat J, Lakshmi B, Troge J, Martin C, Spence S, Ledbetter D, Gilliam TC, Ye K, Geschwind D, Sutcliffe J, Wigler MH. High-resolution analysis of genome copy number variation in autism International Journal of Developmental Neuroscience. 24: 474. DOI: 10.1016/J.Ijdevneu.2006.09.013 |
0.335 |
|
| 2005 |
Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter. American Journal of Medical Genetics. Part A. 136: 38-44. PMID 15937949 DOI: 10.1002/Ajmg.A.30774 |
0.437 |
|
| 2005 |
Wong A, Lese Martin C, Heretis K, Ruffalo T, Wilber K, King W, Ledbetter DH. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 264-71. PMID 15834244 DOI: 10.1097/01.Gim.0000160076.14102.Ec |
0.376 |
|
| 2004 |
Huang B, Martin CL, Sandlin CJ, Wang S, Ledbetter DH. Mitotic and meiotic instability of a telomere association involving the Y chromosome. American Journal of Medical Genetics. Part A. 129: 120-3. PMID 15316974 DOI: 10.1002/Ajmg.A.30146 |
0.419 |
|
| 2004 |
Wong A, Vallender EJ, Heretis K, Ilkin Y, Lahn BT, Martin CL, Ledbetter DH. Diverse fates of paralogs following segmental duplication of telomeric genes. Genomics. 84: 239-47. PMID 15233989 DOI: 10.1016/J.Ygeno.2004.03.001 |
0.431 |
|
| 2004 |
Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. American Journal of Human Genetics. 74: 1168-74. PMID 15127362 DOI: 10.1086/421250 |
0.461 |
|
| 2003 |
Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics. 82: 238-44. PMID 12837273 DOI: 10.1016/S0888-7543(03)00108-3 |
0.375 |
|
| 2003 |
Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/Sj.Ejhg.5200995 |
0.435 |
|
| 2003 |
Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genetics. 34: 274-85. PMID 12796778 DOI: 10.1038/Ng1169 |
0.322 |
|
| 2003 |
Cardoso C, Leventer RJ, Ward HL, Toyo-oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 American Journal of Human Genetics. 72: 918-930. PMID 12621583 DOI: 10.1086/374320 |
0.393 |
|
| 2002 |
D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, ... ... Ledbetter DH, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain : a Journal of Neurology. 125: 2507-22. PMID 12390976 DOI: 10.1093/Brain/Awf248 |
0.345 |
|
| 2002 |
Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics. 39: 734-40. PMID 12362030 DOI: 10.1136/Jmg.39.10.734 |
0.459 |
|
| 2002 |
Herzing LB, Cook EH, Ledbetter DH. Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Human Molecular Genetics. 11: 1707-18. PMID 12095913 DOI: 10.1093/Hmg/11.15.1707 |
0.414 |
|
| 2002 |
Martin CL, Wong A, Gross A, Chung J, Fantes JA, Ledbetter DH. The evolutionary origin of human subtelomeric homologies--or where the ends begin. American Journal of Human Genetics. 70: 972-84. PMID 11875757 DOI: 10.1086/339768 |
0.435 |
|
| 2002 |
Kim SJ, Herzing LB, Veenstra-VanderWeele J, Lord C, Courchesne R, Leventhal BL, Ledbetter DH, Courchesne E, Cook EH. Mutation screening and transmission disequilibrium study of ATP10C in autism. American Journal of Medical Genetics. 114: 137-43. PMID 11857573 DOI: 10.1002/Ajmg.10238 |
0.391 |
|
| 2002 |
Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Human Mutation. 19: 4-15. PMID 11754098 DOI: 10.1002/Humu.10028 |
0.307 |
|
| 2002 |
Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 57: 416-22. PMID 11502906 DOI: 10.1212/Wnl.57.3.416 |
0.314 |
|
| 2001 |
Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1: from cortical malformation to essential protein of cellular dynamics. Trends in Neurosciences. 24: 489-92. PMID 11506866 DOI: 10.1016/S0166-2236(00)01887-7 |
0.309 |
|
| 2001 |
Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 57: 327-30. PMID 11468322 DOI: 10.1212/Wnl.57.2.327 |
0.32 |
|
| 2001 |
Herzing LBK, Kim S, Cook EH, Ledbetter DH. The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression American Journal of Human Genetics. 68: 1501-1505. PMID 11353404 DOI: 10.1086/320616 |
0.443 |
|
| 2001 |
Simonic I, Nyholt DR, Gericke GS, Gordon D, Matsumoto N, Ledbetter DH, Ott J, Weber JL. Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. American Journal of Medical Genetics. 105: 163-7. PMID 11304830 DOI: 10.1002/Ajmg.1192 |
0.458 |
|
| 2001 |
Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. American Journal of Human Genetics. 68: 874-83. PMID 11231899 DOI: 10.1086/319506 |
0.41 |
|
| 2001 |
Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 9: 5-12. PMID 11175293 DOI: 10.1038/Sj.Ejhg.5200548 |
0.309 |
|
| 2000 |
Matsumoto N, David DE, Johnson EW, Konecki D, Burmester JK, Ledbetter DH, Weber JL. Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. European Journal of Human Genetics : Ejhg. 8: 875-83. PMID 11093278 DOI: 10.1038/Sj.Ejhg.5200549 |
0.482 |
|
| 2000 |
Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. American Journal of Human Genetics. 67: 1586-91. PMID 11038325 DOI: 10.1086/316897 |
0.371 |
|
| 2000 |
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, et al. An optimized set of human telomere clones for studying telomere integrity and architecture. American Journal of Human Genetics. 67: 320-32. PMID 10869233 DOI: 10.1086/302998 |
0.432 |
|
| 2000 |
Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Molecular Medicine Today. 6: 277-84. PMID 10859564 DOI: 10.1016/S1357-4310(00)01730-5 |
0.406 |
|
| 2000 |
Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 Clinical Genetics. 57: 349-358. PMID 10852369 DOI: 10.1034/J.1399-0004.2000.570505.X |
0.429 |
|
| 1999 |
Storto PD, Diehn TN, O'Malley DP, Bullard BA, Netzloff ML, VanDyke DL, Feldman GL, Precht KS, Ledbetter DH, Lese CM. Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent. Prenatal Diagnosis. 19: 1088-9. PMID 10589072 DOI: 10.1002/(Sici)1097-0223(199911)19:11<1088::Aid-Pd692>3.0.Co;2-R |
0.366 |
|
| 1999 |
Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rosenfield RL. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatric Research. 46: 510-3. PMID 10541311 DOI: 10.1203/00006450-199911000-00004 |
0.421 |
|
| 1999 |
Lese CM, Fantes JA, Riethman HC, Ledbetter DH. Characterization of physical gap sizes at human telomeres Genome Research. 9: 888-894. PMID 10508848 DOI: 10.1101/Gr.9.9.888 |
0.434 |
|
| 1999 |
Matsumoto N, Ledbetter DH. Molecular cloning and characterization of the human NUDC gene Human Genetics. 104: 498-504. PMID 10453739 DOI: 10.1007/S004390050994 |
0.389 |
|
| 1999 |
Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 53: 270-7. PMID 10430413 DOI: 10.1212/Wnl.53.2.270 |
0.366 |
|
| 1999 |
Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith ACM. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3 American Journal of Medical Genetics. 85: 369-375. PMID 10398263 DOI: 10.1002/(Sici)1096-8628(19990806)85:4<369::Aid-Ajmg13>3.0.Co;2-L |
0.384 |
|
| 1999 |
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13) Human Molecular Genetics. 8: 1025-1037. PMID 10332034 DOI: 10.1093/Hmg/8.6.1025 |
0.465 |
|
| 1999 |
Matsumoto N, Pilz DT, Ledbetter DH. Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). Genomics. 56: 179-183. PMID 10051403 DOI: 10.1006/Geno.1998.5673 |
0.414 |
|
| 1999 |
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Human Molecular Genetics. 8: 129-35. PMID 9887341 DOI: 10.1093/Hmg/8.1.129 |
0.386 |
|
| 1999 |
Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. The Journal of Pediatrics. 134: 42-6. PMID 9880447 DOI: 10.1016/S0022-3476(99)70370-7 |
0.383 |
|
| 1999 |
Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? Journal of Medical Genetics. 35: 920-3. PMID 9832039 DOI: 10.1136/Jmg.35.11.920 |
0.309 |
|
| 1998 |
Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1: 29-33. PMID 11261426 DOI: 10.1097/00125817-199811000-00007 |
0.383 |
|
| 1998 |
Pack SD, Pak E, Tanigami A, Ledbetter DH, Fukuda MN. Assignment1 of the bystin gene BYSL to human chromosome band 6p21.1 by in situ hybridization. Cytogenetics and Cell Genetics. 83: 76-7. PMID 9925933 DOI: 10.1159/000015131 |
0.392 |
|
| 1998 |
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH. Two 22q telomere deletions serendipitously detected by FISH. Journal of Medical Genetics. 35: 939-42. PMID 9832042 DOI: 10.1136/Jmg.35.11.939 |
0.433 |
|
| 1998 |
Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human Molecular Genetics. 7: 2029-37. PMID 9817918 DOI: 10.1093/Hmg/7.13.2029 |
0.307 |
|
| 1998 |
Canevini MP, Sgro V, Zuffardi O, Canger R, Carrozzo R, Rossi E, Ledbetter D, Minicucci F, Vignoli A, Piazzini A, Guidolin L, Saltarelli A, Bernardina Bd. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern Epilepsia. 39: 942-951. PMID 9738673 DOI: 10.1111/J.1528-1157.1998.Tb01443.X |
0.42 |
|
| 1998 |
Jacobsen J, King BH, Leventhal BL, Christian SL, Ledbetter DH, Cook EH. Molecular screening for proximal 15q abnormalities in a mentally retarded population. Journal of Medical Genetics. 35: 534-8. PMID 9678696 DOI: 10.1136/Jmg.35.7.534 |
0.405 |
|
| 1998 |
Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Human Molecular Genetics. 7: 1011-9. PMID 9580665 DOI: 10.1093/Hmg/7.6.1011 |
0.415 |
|
| 1998 |
Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Research. 8: 146-57. PMID 9477342 DOI: 10.1101/Gr.8.2.146 |
0.453 |
|
| 1998 |
Nacheva EP, Grace CD, Bittner M, Ledbetter DH, Jenkins RB, Green AR. Comparative genomic hybridization: a comparison with molecular and cytogenetic analysis. Cancer Genetics and Cytogenetics. 100: 93-105. PMID 9428351 DOI: 10.1016/S0165-4608(97)00021-6 |
0.453 |
|
| 1997 |
Pack SD, Tanigami A, Ledbetter DH, Sato T, Fukuda MN. Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22-->p11.21 by in situ hybridization. Cytogenetics and Cell Genetics. 79: 123-4. PMID 9533028 DOI: 10.1159/000134698 |
0.377 |
|
| 1997 |
Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, Fois A, Bosio L, Simi P, Beccaria L, Zuffardi O, Ledbetter DH. Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome American Journal of Human Genetics. 61: 228-231. PMID 9246004 DOI: 10.1086/513907 |
0.387 |
|
| 1997 |
Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. Genome Research. 7: 625-34. PMID 9199935 DOI: 10.1101/Gr.7.6.625 |
0.453 |
|
| 1997 |
Meroni G, Reymond A, Alcalay M, Borsani G, Tanigami A, Tonlorenzi R, Lo Nigro C, Messali S, Zollo M, Ledbetter DH, Brent R, Ballabio A, Carrozzo R. Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. The Embo Journal. 16: 2892-906. PMID 9184233 DOI: 10.1093/Emboj/16.10.2892 |
0.307 |
|
| 1997 |
Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Research. 7: 368-77. PMID 9110176 DOI: 10.1101/Gr.7.4.368 |
0.419 |
|
| 1997 |
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, ... ... Ledbetter DH, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Human Molecular Genetics. 6: 555-62. PMID 9097958 DOI: 10.1093/Hmg/6.4.555 |
0.42 |
|
| 1997 |
Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Human Molecular Genetics. 6: 157-64. PMID 9063735 DOI: 10.1093/Hmg/6.2.157 |
0.356 |
|
| 1997 |
Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Human Molecular Genetics. 6: 147-55. PMID 9063734 DOI: 10.1093/Hmg/6.2.147 |
0.393 |
|
| 1997 |
Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH. Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. Journal of Medical Genetics. 33: 1011-4. PMID 9004133 DOI: 10.1136/Jmg.33.12.1011 |
0.349 |
|
| 1997 |
Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenatal Diagnosis. 16: 837-44. PMID 8905898 DOI: 10.1002/(Sici)1097-0223(199609)16:9<837::Aid-Pd956>3.0.Co;2-7 |
0.438 |
|
| 1996 |
Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes Human Genetics. 99: 11-17. PMID 9003485 DOI: 10.1007/S004390050301 |
0.442 |
|
| 1996 |
Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. American Journal of Medical Genetics. 66: 426-8. PMID 8989460 DOI: 10.1002/(Sici)1096-8628(19961230)66:4<426::Aid-Ajmg7>3.0.Co;2-I |
0.446 |
|
| 1996 |
Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. American Journal of Medical Genetics. 66: 77-80. PMID 8957518 DOI: 10.1002/(Sici)1096-8628(19961202)66:1<77::Aid-Ajmg18>3.0.Co;2-N |
0.391 |
|
| 1996 |
Paulyson KJ, Sherer DM, Christian SL, Lewis KM, Ledbetter DH, Salafia CM, Meck JM. Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin. Prenatal Diagnosis. 16: 1021-6. PMID 8953635 DOI: 10.1002/(Sici)1097-0223(199611)16:11<1021::Aid-Pd963>3.0.Co;2-I |
0.306 |
|
| 1996 |
Butler MG, Christian SL, Kubota T, Ledbetter DH. A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. American Journal of Medical Genetics. 65: 137-141. PMID 8911606 DOI: 10.1002/(Sici)1096-8628(19961016)65:2<137::Aid-Ajmg11>3.0.Co;2-R |
0.471 |
|
| 1996 |
Ning Y, Roschke A, Christian SL, Lesser J, Sutcliffe JS, Ledbetter DH. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region Genome Research. 6: 742-746. PMID 8858349 DOI: 10.1101/Gr.6.8.742 |
0.314 |
|
| 1996 |
Chong SS, Tanigami A, Roschke AV, Ledbetter DH. 14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. Genome Research. 6: 735-741. PMID 8858348 DOI: 10.1101/Gr.6.8.735 |
0.431 |
|
| 1996 |
McDowell G, Isogai T, Tanigami A, Hazelwood S, Ledbetter D, Polymeropoulos MH, Lichter-Konecki U, Konecki D, Town MM, Van't Hoff WV, Weissenbach J, Gahl WA. Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13. Biochemical and Molecular Medicine. 58: 135-41. PMID 8812732 DOI: 10.1006/Bmme.1996.0041 |
0.428 |
|
| 1996 |
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, et al. X-linked malformations of neuronal migration. Neurology. 47: 331-9. PMID 8757001 DOI: 10.1212/Wnl.47.2.331 |
0.408 |
|
| 1996 |
Christian SL, Smith ACM, Macha M, Black SH, Elder FFB, Johnson JM-, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH. Prenatal Diagnosis Of Uniparental Disomy 15 Following Trisomy 15 Mosaicism Prenatal Diagnosis. 16: 323-332. PMID 8734806 DOI: 10.1002/(Sici)1097-0223(199604)16:4<323::Aid-Pd856>3.0.Co;2-5 |
0.309 |
|
| 1996 |
Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. Multicolor spectral karyotyping of human chromosomes. Science (New York, N.Y.). 273: 494-7. PMID 8662537 DOI: 10.1126/Science.273.5274.494 |
0.407 |
|
| 1996 |
Naruse K, Ueno M, Satoh T, Nomiyama H, Tei H, Takeda M, Ledbetter DH, Coillie EV, Opdenakker G, Gunge N, Sakaki Y, Iio M, Miura R. A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2. Genomics. 34: 236-240. PMID 8661057 DOI: 10.1006/Geno.1996.0274 |
0.426 |
|
| 1996 |
Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Human Genetics. 97: 765-9. PMID 8641694 DOI: 10.1007/Bf02346187 |
0.46 |
|
| 1996 |
Schulze A, Hansen C, Skakkebæk NE, Brøndum-Nielsen K, Ledbetter DH, Tommerup N. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint Nature Genetics. 12: 452-454. PMID 8630505 DOI: 10.1038/Ng0496-452 |
0.486 |
|
| 1996 |
Ledbetter DH, Christian SL, Kubota T, Mutirangura A, Sutcliffe JS, Nakao M, Beaudet AL. Dosage and imprinting effects in abnormalities of human chromosome 15 Acta Geneticae Medicae Et Gemellologiae. 45: 83. DOI: 10.1017/S0001566000001136 |
0.408 |
|
| 1995 |
Reiner O, Bar-Am I, Sapir T, Shmueli O, Carrozzo R, Lindsay EA, Baldini A, Ledbetter DH, Cahana A. LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. Genomics. 30: 251-6. PMID 8586424 DOI: 10.1006/Geno.1995.9880 |
0.433 |
|
| 1995 |
Ledbetter D, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis Human Molecular Genetics. 4: 1757-1764. PMID 8541876 DOI: 10.1093/Hmg/4.Suppl_1.1757 |
0.436 |
|
| 1995 |
Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K. Detection of a subtle rearrangement of chromosome 22 using molecular techniques. American Journal of Medical Genetics. 58: 389-394. PMID 8533859 DOI: 10.1002/Ajmg.1320580426 |
0.411 |
|
| 1995 |
Estabrooks LL, Breg WR, Hayden MR, Ledbetter DH, Myers RM, Wyandt HE, Yang-Feng TL, Hirschhorn K. Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". American Journal of Medical Genetics. 55: 453-8. PMID 7762585 DOI: 10.1002/Ajmg.1320550412 |
0.439 |
|
| 1995 |
Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC. Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes & Development. 9: 808-20. PMID 7705658 DOI: 10.1101/Gad.9.7.808 |
0.403 |
|
| 1995 |
Scheuerle A, Zenger-Hain JL, Dyke DLV, Ledbetter DH, Greenberg F, Shaffer LG. Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter). American Journal of Medical Genetics. 56: 403-408. PMID 7604850 DOI: 10.1002/Ajmg.1320560411 |
0.405 |
|
| 1995 |
Polymeropoulos MH, Torres R, Yanovski JA, Chandrasekharappa SC, Ledbetter DH. The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22. Genomics. 28: 123-4. PMID 7590738 DOI: 10.1006/Geno.1995.1118 |
0.393 |
|
| 1994 |
Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Human Molecular Genetics. 3: 309-15. PMID 8004100 DOI: 10.1093/Hmg/3.2.309 |
0.372 |
|
| 1994 |
Ben-Arie N, Lancet D, Taylor C, Khen M, Walker N, Ledbetter DH, Carrozzo R, Patel K, Sheer D, Lehrach H. Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. Human Molecular Genetics. 3: 229-35. PMID 8004088 DOI: 10.1093/Hmg/3.2.229 |
0.338 |
|
| 1994 |
Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 8: 52-8. PMID 7987392 DOI: 10.1038/Ng0994-52 |
0.387 |
|
| 1994 |
Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N. Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions American Journal of Medical Genetics. 50: 64-67. PMID 7909198 DOI: 10.1002/Ajmg.1320500114 |
0.414 |
|
| 1994 |
Woodage T, Deng ZM, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ. A variety of genetic mechanisms are associated with the Prader-Willi syndrome. American Journal of Medical Genetics. 54: 219-26. PMID 7810579 DOI: 10.1002/Ajmg.1320540308 |
0.477 |
|
| 1994 |
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N. Molecular and clinical study of 61 Angelman syndrome patients American Journal of Medical Genetics. 52: 158-163. PMID 7802001 DOI: 10.1002/Ajmg.1320520207 |
0.409 |
|
| 1994 |
Isomura M, Tanigami A, Saito H, Harada Y, Katagiri T, Inazawa J, Nakamura Y, Ledbetter DH. Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high‐resolution physical map with 29 markers Genes, Chromosomes and Cancer. 9: 173-179. PMID 7515659 DOI: 10.1002/Gcc.2870090305 |
0.396 |
|
| 1993 |
Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Human Molecular Genetics. 2: 143-51. PMID 8499903 DOI: 10.1093/Hmg/2.2.143 |
0.474 |
|
| 1993 |
Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. American Journal of Medical Genetics. 45: 581-583. PMID 8456828 DOI: 10.1002/Ajmg.1320450512 |
0.438 |
|
| 1993 |
Coppes MJ, Sohl H, Teshima IE, Mutirangura A, Ledbetter DH, Weksberg R. Wilms tumor in a patient with Prader-Willi syndrome. The Journal of Pediatrics. 122: 730-733. PMID 8388447 DOI: 10.1016/S0022-3476(06)80015-6 |
0.393 |
|
| 1993 |
Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 364: 717-21. PMID 8355785 DOI: 10.1038/364717A0 |
0.384 |
|
| 1993 |
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 18: 546-52. PMID 8307564 DOI: 10.1016/S0888-7543(11)80011-X |
0.444 |
|
| 1993 |
Washington SS, Bowcock AM, Gerken S, Matsunami N, Lesh D, Osborne-Lawrence SL, Cowell J, Ledbetter DH, White RL, Chakravarti A. A somatic cell hybrid map of human chromosome 13. Genomics. 18: 486-95. PMID 8307557 DOI: 10.1016/S0888-7543(11)80004-2 |
0.385 |
|
| 1993 |
Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH. Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. American Journal of Medical Genetics. 47: 383-386. PMID 8135286 DOI: 10.1002/Ajmg.1320470317 |
0.456 |
|
| 1993 |
Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Human Molecular Genetics. 2: 1991-4. PMID 8111365 DOI: 10.1093/Hmg/2.12.1991 |
0.44 |
|
| 1993 |
Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. Jama. 270: 2838-42. PMID 7907669 DOI: 10.1001/Jama.1993.03510230076039 |
0.449 |
|
| 1992 |
Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology. 42: 1375-88. PMID 1620349 DOI: 10.1212/Wnl.42.7.1375 |
0.382 |
|
| 1992 |
Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, Lubs HA. Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome American Journal of Medical Genetics. 43: 479-490. PMID 1605230 DOI: 10.1002/Ajmg.1320430172 |
0.371 |
|
| 1992 |
Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE. MRX8: an X-linked mental retardation condition with linkage to Xq21. American Journal of Medical Genetics. 43: 467-74. PMID 1605227 DOI: 10.1002/Ajmg.1320430170 |
0.308 |
|
| 1992 |
Desnick RJ, Schuette JL, Golbus MS, Jackson L, Lubs HA, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Zachary JM, Fowler SE, Rhoads GG, De la Cruz F. First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study Prenatal Diagnosis. 12: 357-372. PMID 1523203 DOI: 10.1002/Pd.1970120505 |
0.332 |
|
| 1992 |
Hendricks-Taylor LR, Bachinski LL, Siciliano MJ, Fertitta A, Trask B, de Jong PJ, Ledbetter DH, Darlington GJ. The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1. Genomics. 14: 12-7. PMID 1427819 DOI: 10.1016/S0888-7543(05)80276-9 |
0.399 |
|
| 1992 |
Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, Ledbetter DH. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis Human Molecular Genetics. 1: 417-425. PMID 1363801 DOI: 10.1093/Hmg/1.6.417 |
0.445 |
|
| 1992 |
Huang TH, Cottingham RW, Ledbetter DH, Zoghbi HY. Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 13: 375-80. PMID 1351869 DOI: 10.1016/0888-7543(92)90256-R |
0.406 |
|
| 1992 |
Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH. Dinucleotide repeat polymorphism at the GABAA receptor β3 (GABRB3) locus in the Angelman/Prader— Willi region (AS/PWS) of chromosome 15 Human Molecular Genetics. 1: 67-67. PMID 1338690 DOI: 10.1093/Hmg/1.1.67 |
0.354 |
|
| 1992 |
Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A Nature Genetics. 1: 29-33. PMID 1301995 DOI: 10.1038/Ng0492-29 |
0.332 |
|
| 1992 |
Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Human Molecular Genetics. 1: 139-139. PMID 1301155 DOI: 10.1093/Hmg/1.2.139-A |
0.419 |
|
| 1991 |
Rollins BJ, Morton CC, Ledbetter DH, Eddy RL, Shows TB. Assignment of the human small inducible cytokine A2 gene, SCYA2 (encoding JE or MCP-1), to 17q11.2-12: evolutionary relatedness of cytokines clustered at the same locus. Genomics. 10: 489-492. PMID 2071154 DOI: 10.1016/0888-7543(91)90338-F |
0.39 |
|
| 1991 |
Morrison N, Goddard JP, Ledbetter DH, Boyd E, Bourn D, Connor JM. Chromosomal assignment of a large tRNA gene cluster (tRNA Leu , tRNA Gln , tRNA Lys , tRNA Arg , tRNA Gly ) to 17p13.1 Human Genetics. 87: 226-230. PMID 2066114 DOI: 10.1007/Bf00204190 |
0.388 |
|
| 1991 |
Ning Y, Weber JL, Killary AM, Ledbetter DH, Smith JR, Pereira-Smith OM. Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proceedings of the National Academy of Sciences of the United States of America. 88: 5635-9. PMID 2062841 DOI: 10.1073/Pnas.88.13.5635 |
0.376 |
|
| 1991 |
Taylor RG, Garcia-Heras J, Sadler SJ, Lafreniere RG, Willard HF, Ledbetter DH, Mcinnes RR. Localization of histidase to human chromosome region 12q22→q24.1 and mouse chromosome region 10C2→D1 Cytogenetic and Genome Research. 56: 178-181. PMID 2055114 DOI: 10.1159/000133082 |
0.404 |
|
| 1991 |
Huang THM, Greenberg F, Ledbetter DH. Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences. Human Genetics. 86: 619-620. PMID 2026425 DOI: 10.1007/Bf00201553 |
0.399 |
|
| 1991 |
Ledbetter SA, Schwartz CE, Davies KE, Ledbetter DH. New somatic cell hybrids for physical mapping in distal Xq and the fragile X region American Journal of Medical Genetics. 38: 418-420. PMID 2018083 DOI: 10.1002/Ajmg.1320380254 |
0.366 |
|
| 1991 |
Pettigrew AL, Jackson LG, Ledbetter DH. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. American Journal of Medical Genetics. 38: 200-207. PMID 2018058 DOI: 10.1002/Ajmg.1320380206 |
0.302 |
|
| 1991 |
Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. Localization of the X inactivation centre on the human X chromosome in Xq13 Nature. 349: 82-84. PMID 1985270 DOI: 10.1038/349082A0 |
0.376 |
|
| 1991 |
Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). American Journal of Medical Genetics. 40: 196-198. PMID 1897574 DOI: 10.1002/Ajmg.1320400214 |
0.411 |
|
| 1991 |
Pettigrew AL, McCabe ERB, Ledbetter DH, Elder FFB. Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center. Human Genetics. 87: 498-502. PMID 1879836 DOI: 10.1007/Bf00197176 |
0.383 |
|
| 1991 |
Pettigrew AL, Greenberg F, Caskey CT, Ledbetter DH. Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. Human Genetics. 87: 452-6. PMID 1879832 DOI: 10.1007/Bf00197167 |
0.444 |
|
| 1991 |
Mares A, Ledbetter SA, Ledbetter DH, Roberts R, Hejtmancik JF. Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR. Genomics. 11: 215-218. PMID 1765380 DOI: 10.1016/0888-7543(91)90122-U |
0.415 |
|
| 1991 |
Surh LC, Ledbetter DH, Greenberg F. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]. American Journal of Medical Genetics. 41: 15-17. PMID 1719812 DOI: 10.1002/Ajmg.1320410105 |
0.394 |
|
| 1991 |
White JJ, Ledbetter DH, Eddy RL, Shows TB, Stewart DA, Nuell MJ, Friedman V, Wood CM, Owens GA, McClung JK. Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism. Genomics. 11: 228-30. PMID 1684951 DOI: 10.1016/0888-7543(91)90126-Y |
0.418 |
|
| 1991 |
Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Human Genetics. 87: 269-77. PMID 1677922 DOI: 10.1007/Bf00200903 |
0.429 |
|
| 1991 |
Hirst MC, Bell MV, MacKinnon RN, Watson JE, Callen D, Sutherland G, Dahl N, Patterson MN, Schwartz C, Ledbetter D. Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site. American Journal of Medical Genetics. 38: 354-6. PMID 1673311 DOI: 10.1002/Ajmg.1320380238 |
0.346 |
|
| 1991 |
Ning Y, Shay JW, Lovell M, Taylor L, Ledbetter DH, Pereira-Smith OM. Tumor suppression by chromosome 11 is not due to cellular senescence. Experimental Cell Research. 192: 220-6. PMID 1670600 DOI: 10.1016/0014-4827(91)90179-X |
0.382 |
|
| 1991 |
Kessel AGv, Leeuw Hd, Dekker EJ, Rijks L, Spurr N, Ledbetter D, Kootwijk E, Vaessen MJ. Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15. Human Genetics. 87: 201-204. PMID 1648546 DOI: 10.1007/Bf00204182 |
0.415 |
|
| 1991 |
Mares A, Hejtmancik JF, Ledbetter SA, Ledbetter DH, Perryman MB, Roberts R. Mapping of the chromosome containing the locus for hypertrophic cardiomyopathy using polymerase chain reaction and radiation hybrids Journal of the American College of Cardiology. 17. DOI: 10.1016/0735-1097(91)91628-R |
0.333 |
|
| 1990 |
Lichter P, Ledbetter SA, Ledbetter DH, Ward DC. Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines Proceedings of the National Academy of Sciences of the United States of America. 87: 6634-6638. PMID 2395866 DOI: 10.1073/Pnas.87.17.6634 |
0.364 |
|
| 1990 |
Ledbetter SA, Wallace MR, Collins FS, Ledbetter DH. Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3 Genomics. 7: 264-269. PMID 2347590 DOI: 10.1016/0888-7543(90)90549-A |
0.409 |
|
| 1990 |
Ledbetter SA, Nelson DL, Warren ST, Ledbetter DH. Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction Genomics. 6: 475-481. PMID 2328990 DOI: 10.1016/0888-7543(90)90477-C |
0.399 |
|
| 1990 |
Ledbetter DH, Martin AO, Verlinsky Y, Pergament E, Jackson L, Yang-Feng T, Schonberg SA, Gilbert F, Zachary JM, Barr M, Copeland KL, DiMaio MS, Fine B, Rosinsky B, Schuette J, et al. Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study American Journal of Obstetrics and Gynecology. 162: 495-501. PMID 2309837 DOI: 10.1016/0002-9378(90)90419-8 |
0.317 |
|
| 1990 |
Sifers RN, Ledley FD, Reed-Fourquet L, Ledbetter DH, Ledbetter SA, Woo SL. Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin. Genomics. 6: 100-4. PMID 2303252 DOI: 10.1016/0888-7543(90)90453-2 |
0.303 |
|
| 1990 |
Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. American Journal of Medical Genetics. 35: 148-51. PMID 2301468 DOI: 10.1002/Ajmg.1320350131 |
0.415 |
|
| 1990 |
Lemons RS, Eilender D, Waldmann RA, Rebentisch M, Frej A, Ledbetter DH, Willman C, McConnell T, O'Connell P. Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes, Chromosomes and Cancer. 2: 79-87. PMID 2278973 DOI: 10.1002/Gcc.2870020202 |
0.454 |
|
| 1990 |
Ledbetter SA, Garcia-Heras J, Ledbetter DH. “PCR-Karyotype” of human chromosomes in somatic cell hybrids Genomics. 8: 614-622. PMID 2276735 DOI: 10.1016/0888-7543(90)90247-R |
0.414 |
|
| 1990 |
Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH. Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Human Genetics. 85: 555-9. PMID 2227942 DOI: 10.1007/Bf00194237 |
0.352 |
|
| 1990 |
O'Connell P, Viskochil D, Buchberg AM, Fountain J, Cawthon RM, Culver M, Stevens J, Rich DC, Ledbetter DH, Wallace M, Carey JC, Jenkins NA, Copeland NG, Collins FS, White R. The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics. 7: 547-554. PMID 2117565 DOI: 10.1016/0888-7543(90)90198-4 |
0.409 |
|
| 1990 |
Patel PI, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR. Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] Nucleic Acids Research. 18: 1087-1087. PMID 1969146 DOI: 10.1093/Nar/18.4.1087 |
0.37 |
|
| 1990 |
Weber JL, Kwitek AE, May PE, Wallance MR, Collins FS, Ledbetter DH. Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci Nucleic Acids Research. 18: 4640-4640. DOI: 10.1093/Nar/18.15.4640-A |
0.337 |
|
| 1989 |
Nelson DL, Ledbetter SA, Corbo L, Victoria MF, RamÃrez-Solis R, Webster TD, Ledbetter DH, Caskey CT. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proceedings of the National Academy of Sciences of the United States of America. 86: 6686-90. PMID 2771952 DOI: 10.1073/Pnas.86.17.6686 |
0.407 |
|
| 1989 |
Ledbetter DH, Ledbetter SA, vanTuinen P, Summers KM, Robinson TJ, Nakamura Y, Wolff R, White R, Barker DF, Wallace MR. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proceedings of the National Academy of Sciences of the United States of America. 86: 5136-40. PMID 2740347 DOI: 10.1073/Pnas.86.13.5136 |
0.484 |
|
| 1989 |
Baker SJ, Fearon ER, Nigro JM, Hamilton SR, Preisinger AC, Jessup JM, vanTuinen P, Ledbetter DH, Barker DF, Nakamura Y, White R, Vogelstein B. Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (New York, N.Y.). 244: 217-21. PMID 2649981 DOI: 10.1126/Science.2649981 |
0.357 |
|
| 1989 |
Litt M, Buder A, Vissing H, Tuinen Pv, Ledbetter DH. An anonymous single-copy clone, p55-B1, from chromosome 17 identifies a TaqI RFLP [HGM9 no. D17S86]. Nucleic Acids Research. 17: 2371-2371. PMID 2565029 DOI: 10.1093/Nar/17.6.2371 |
0.402 |
|
| 1989 |
O'connell P, Leach R, Cawthon RM, Culver M, Stevens J, Viskochil D, Fournier REK, Rich DC, Ledbetter DH, White R. Two NF1 translocations map within a 600-kilobase segment of 17q11.2. Science. 244: 1087-1088. PMID 2543077 DOI: 10.1126/Science.2543077 |
0.34 |
|
| 1989 |
Menon AG, Ledbetter DH, Rich DC, Seizinger BR, Rouleau GA, Michels VF, Schmidt MA, Dewald G, DallaTorre CM, Haines JL. Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17. Genomics. 5: 245-9. PMID 2507442 DOI: 10.1016/0888-7543(89)90053-0 |
0.453 |
|
| 1989 |
Cassidy SB, Ledbetter DH. Prader-Willi syndrome. Neurologic Clinics. 7: 37-54. DOI: 10.1016/S0733-8619(18)30827-2 |
0.466 |
|
| 1988 |
Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH. Duplication of proximal 15q as a cause of Prader-Willi syndrome. American Journal of Medical Genetics. 28: 791-802. PMID 3688017 DOI: 10.1002/Ajmg.1320280403 |
0.441 |
|
| 1988 |
Herman GE, Greenberg F, Ledbetter DH, Optiz JM, Reynolds JF. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q) American Journal of Medical Genetics. 29: 909-915. PMID 3400736 DOI: 10.1002/Ajmg.1320290423 |
0.378 |
|
| 1988 |
Ledley FD, Ledbetter SA, Ledbetter DH, Woo SL. Localization of mouse phenylalanine hydroxylase locus on chromosome 10. Cytogenetics and Cell Genetics. 47: 125-6. PMID 3378451 DOI: 10.1159/000132528 |
0.406 |
|
| 1988 |
Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Le Beau MM, Beaudet AL, Gray JW, Sekhon G, Krassikoff N. Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. American Journal of Medical Genetics. 31: 643-54. PMID 3228143 DOI: 10.1002/Ajmg.1320310320 |
0.419 |
|
| 1988 |
Greenberg F, Ledbetter DH. Chromosome abnormalities and Williams syndrome. American Journal of Medical Genetics. 30: 993-994. PMID 3189419 DOI: 10.1002/Ajmg.1320300423 |
0.413 |
|
| 1988 |
Greenberg F, Courtney KB, Wessels RA, Huhta J, Carpenter RJ, Rich DC, Ledbetter DH, Opitz JM, Reynolds JF. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly American Journal of Medical Genetics. 31: 1-4. PMID 3066218 DOI: 10.1002/Ajmg.1320310102 |
0.343 |
|
| 1988 |
Rich DC, Witkowski CM, Summers KM, Tuinen Pv, Ledbetter DH. Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. (HGM9 provisional no. D15S24) Nucleic Acids Research. 16: 8740-8740. PMID 2901727 DOI: 10.1093/Nar/16.17.8740 |
0.407 |
|
| 1988 |
Litt M, Kondoleon S, Vissing H, Tuinen Pv, Ledbetter DH. Cosmid 128 defines three RFLPs on chromosome 17q23-qter. [HGM9 no. D17S77]. Nucleic Acids Research. 16: 6251-6251. PMID 2899874 DOI: 10.1093/Nar/16.13.6251 |
0.418 |
|
| 1988 |
Luty J, Kondoleon S, Tuinen Pv, Ledbetter DH, Vissing H, Ramsay A, Litt M. RFLPs revealed by cosmid 131 [HGM9 no. D17S78]. Nucleic Acids Research. 16: 6250-6250. PMID 2899873 DOI: 10.1093/Nar/16.13.6250 |
0.384 |
|
| 1988 |
Zhou YZ, Slagle BL, Donehower LA, vanTuinen P, Ledbetter DH, Butel JS. Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma. Journal of Virology. 62: 4224-4231. PMID 2845134 DOI: 10.1128/Jvi.62.11.4224-4231.1988 |
0.344 |
|
| 1988 |
Sosnoski DM, Emanuel BS, Hawkins AL, Van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS, Fitzgerald LA, Poncz M. Chromosomal localization of the genes for the vitronectin and fibronectin receptors α subunits and for platelet glycoproteins IIb and IIIa Journal of Clinical Investigation. 81: 1993-1998. PMID 2454952 DOI: 10.1172/Jci113548 |
0.365 |
|
| 1988 |
Selvanayagam P, Blick M, Narni F, Tuinen Pv, Ledbetter D, Alexanian R, Saunders G, Barlogie B. Alteration and abnormal expression of the c-myc oncogene in human multiple myeloma. Blood. 71: 30-35. DOI: 10.1182/Blood.V71.1.30.30 |
0.302 |
|
| 1987 |
Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. American Journal of Medical Genetics. 26: 59-64. PMID 3812578 DOI: 10.1002/Ajmg.1320260111 |
0.3 |
|
| 1987 |
Greenberg F, Elder FFB, Opitz JM, Reynolds JF, Ledbetter DH. Neonatal diagnosis of Prader-Willi syndrome and its implications American Journal of Medical Genetics. 28: 845-856. PMID 3688023 DOI: 10.1002/Ajmg.1320280409 |
0.311 |
|
| 1987 |
Butler MG, Jenkins BB, Orth DN, Reynolds JF, Ledbetter DH. Plasma immunoreactive β‐melanocyte stimulating hormone (lipotro‐pin) levels in individuals with prader‐labhart‐willi syndrome American Journal of Medical Genetics. 28: 839-844. PMID 3688022 DOI: 10.1002/Ajmg.1320280408 |
0.317 |
|
| 1987 |
Lubinsky M, Zellweger H, Greenswag L, Larson G, Hansmann I, Ledbetter D. Familial Prader-Willi syndrome with apparently normal chromosomes. American Journal of Medical Genetics. 28: 37-43. PMID 3674116 DOI: 10.1002/Ajmg.1320280106 |
0.389 |
|
| 1987 |
Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proceedings of the National Academy of Sciences of the United States of America. 84: 6521-6525. PMID 3476958 DOI: 10.1073/Pnas.84.18.6521 |
0.4 |
|
| 1987 |
Liou GI, Fong SL, Gosden J, van Tuinen P, Ledbetter DH, Christie S, Rout D, Bhattacharya S, Cook RG, Li Y. Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization. Somatic Cell and Molecular Genetics. 13: 315-23. PMID 3455009 DOI: 10.1007/Bf01534925 |
0.353 |
|
| 1987 |
Tuinen Pv, Rich DC, Summers KM, Ledbetter DH. Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1 Genomics. 1: 374-381. PMID 3130306 DOI: 10.1016/0888-7543(87)90042-5 |
0.417 |
|
| 1987 |
Humphreys-Beher MG, Bunnell B, vanTuinen P, Ledbetter DH, Kidd VJ. Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase. Proceedings of the National Academy of Sciences of the United States of America. 83: 8918-22. PMID 3097639 DOI: 10.1073/Pnas.83.23.8918 |
0.301 |
|
| 1987 |
Buroker NE, Kondoleon S, vanTuinen P, Ledbetter DH, Litt M. Cosmid 1–26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20] Nucleic Acids Research. 15: 9097-9097. PMID 2891105 DOI: 10.1093/Nar/15.21.9097 |
0.417 |
|
| 1987 |
Kondoleon S, vanTuinen P, Ledbetter DH, Vissing H, Litt M. An anonymous single-copy clone, pC63, from chromosome 17q23-qter identifies a frequent RFLP [HGM9 No. D17S21]. Nucleic Acids Research. 15: 9096-9096. PMID 2891104 DOI: 10.1093/Nar/15.21.9096 |
0.433 |
|
| 1987 |
Ledley FD, Grenett HE, Bartos DP, van Tuinen P, Ledbetter DH, Woo SL. Assignment of human tryptophan hydroxylase locus to chromosome 11: gene duplication and translocation in evolution of aromatic amino acid hydroxylases. Somatic Cell and Molecular Genetics. 13: 575-80. PMID 2889273 DOI: 10.1007/Bf01534499 |
0.444 |
|
| 1986 |
Greenberg F, Stratton RF, Lockhart LH, Elder FF, Dobyns WB, Ledbetter DH. Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. American Journal of Medical Genetics. 23: 853-9. PMID 3963054 DOI: 10.1002/Ajmg.1320230402 |
0.431 |
|
| 1986 |
Ledbetter DH, Ledbetter SA, Nussbaum RL. Implications of fragile X expression in normal males for the nature of the mutation Nature. 324: 161-163. PMID 3785381 DOI: 10.1038/324161A0 |
0.339 |
|
| 1986 |
Greenberg F, Valdes C, Rosenblatt HM, Kirkland JL, Ledbetter DH. Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. The Journal of Pediatrics. 109: 489-92. PMID 3509963 DOI: 10.1016/S0022-3476(86)80124-X |
0.369 |
|
| 1986 |
Nussbaum RL, Airhart SD, Ledbetter DH, Opitz JM, Reynolds JF. Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. American Journal of Medical Genetics. 23: 715-721. PMID 3456708 DOI: 10.1002/Ajmg.1320230162 |
0.377 |
|
| 1986 |
Chen SH, Tuinen PV, Ledbetter DH, Smith LC, Chan L. Human liver fatty acid binding protein gene is located on chromosome 2. Somatic Cell and Molecular Genetics. 12: 303-306. PMID 3012800 DOI: 10.1007/Bf01570790 |
0.352 |
|
| 1986 |
Nussbaum RL, Airhart SD, Ledbetter DH, Opitz JM, Reynolds JF. A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. American Journal of Medical Genetics. 23: 457-466. PMID 2937300 DOI: 10.1002/Ajmg.1320230137 |
0.386 |
|
| 1986 |
Ledbetter DH, Airhart SD, Nussbaum RL, Opitz JM, Reynolds JF. Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. American Journal of Medical Genetics. 23: 429-443. PMID 2937298 DOI: 10.1002/Ajmg.1320230135 |
0.303 |
|
| 1985 |
Chan L, VanTuinen P, Ledbetter DH, Daiger SP, Gotto AM, Chen SH. The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2. Biochemical and Biophysical Research Communications. 133: 248-255. PMID 4074366 DOI: 10.1016/0006-291X(85)91868-6 |
0.402 |
|
| 1984 |
Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Human Genetics. 67: 193-200. PMID 6745939 DOI: 10.1007/Bf00273000 |
0.447 |
|
| 1984 |
Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22 Human Genetics. 65: 317-319. PMID 6693120 DOI: 10.1007/Bf00291554 |
0.407 |
|
| 1984 |
Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC. Organization of the HPRT gene and related sequences in the human genome. Somatic Cell and Molecular Genetics. 10: 483-93. PMID 6089358 DOI: 10.1007/Bf01534853 |
0.441 |
|
| 1983 |
Nussbaum RL, Airhart SD, Ledbetter DH. Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Human Genetics. 64: 148-150. PMID 6885049 DOI: 10.1007/Bf00327113 |
0.358 |
|
| 1983 |
Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: lissencephaly and monosomy 17p. The Journal of Pediatrics. 102: 552-8. PMID 6834189 DOI: 10.1016/S0022-3476(83)80183-8 |
0.396 |
|
| 1983 |
Greenberg F, Carpenter RJ, Ledbetter DH. Cystic hygroma and hydrops fetalis in a fetus with trisomy 13. Clinical Genetics. 24: 389-391. PMID 6652950 DOI: 10.1111/J.1399-0004.1983.Tb00091.X |
0.399 |
|
| 1983 |
Tuinen Pv, Ledbetter DH. Cytogenetic comparison and phylogeny of three species of hylobatidae American Journal of Physical Anthropology. 61: 453-466. PMID 6624889 DOI: 10.1002/Ajpa.1330610408 |
0.337 |
|
| 1982 |
Hittner HM, King RA, Riccardi VM, Ledbetter DH, Borda RP, Ferrell RE, Kretzer FL. Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. American Journal of Ophthalmology. 94: 328-37. PMID 6812426 DOI: 10.1016/0002-9394(82)90358-0 |
0.346 |
|
| 1981 |
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. The New England Journal of Medicine. 304: 325-9. PMID 7442771 DOI: 10.1056/Nejm198102053040604 |
0.354 |
|
| 1981 |
Michels VV, Driscoll DJ, Ledbetter DH, Riccardi VM. Phenotype associated with ring 10 chromosome: Report of patient and review of literature American Journal of Medical Genetics. 9: 231-237. PMID 7025632 DOI: 10.1002/Ajmg.1320090309 |
0.391 |
|
| 1980 |
Riccardi VM, Hittner HM, Francke U, Yunis JJ, Ledbetter D, Borges W. The aniridia-Wilms tumor association: The critical role of chromosome band 11p13☆ Cancer Genetics and Cytogenetics. 2: 131-137. DOI: 10.1016/0165-4608(80)90056-4 |
0.349 |
|
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