| Year |
Citation |
Score |
| 2020 |
Larson DP, Akkari YM, Van Dyke DL, Raca G, Gardner JA, Rehder CW, Kaiser-Rogers KA, Eagle P, Yuhas JA, Gu J, Toydemir RM, Kearney H, Conlin LK, Tang G, Dolan MM, et al. Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Archives of Pathology & Laboratory Medicine. PMID 32886736 DOI: 10.5858/Arpa.2020-0089-Cp |
0.32 |
|
| 2020 |
Rentas S, Pillai V, Wertheim GB, Akgumus GT, Nichols KE, Deardorff MA, Conlin LK, Li MM, Olson TS, Luo M. Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genetics. 245: 42-48. PMID 32619790 DOI: 10.1016/J.Cancergen.2020.06.002 |
0.379 |
|
| 2020 |
Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, et al. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia. Journal of Human Genetics. PMID 32277176 DOI: 10.1038/S10038-020-0748-4 |
0.365 |
|
| 2020 |
Rajagopalan R, Murrell JR, Luo M, Conlin LK. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Medicine. 12: 14. PMID 32000839 DOI: 10.1186/S13073-020-0712-0 |
0.354 |
|
| 2020 |
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly-inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Human Mutation. PMID 31944481 DOI: 10.1002/Humu.23986 |
0.337 |
|
| 2019 |
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, ... Conlin LK, et al. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31147633 DOI: 10.1038/S41436-019-0551-9 |
0.38 |
|
| 2019 |
Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, et al. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. European Journal of Human Genetics : Ejhg. PMID 30626929 DOI: 10.1038/S41431-018-0328-7 |
0.373 |
|
| 2018 |
Correll-Tash S, Conlin L, Mininger BA, Lilley B, Mennuti MT, Emanuel BS. The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event. Cytogenetic and Genome Research. PMID 30566958 DOI: 10.1159/000494648 |
0.338 |
|
| 2018 |
Carson JC, Hoffner L, Conlin L, Parks WT, Fisher RA, Spinner N, Yatsenko SA, Bonadio J, Surti U. Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. American Journal of Medical Genetics. Part A. PMID 30302900 DOI: 10.1002/Ajmg.A.40646 |
0.319 |
|
| 2018 |
Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, et al. Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. American Journal of Medical Genetics. Part A. PMID 30289601 DOI: 10.1002/Ajmg.A.40499 |
0.341 |
|
| 2018 |
Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, ... ... Conlin LK, et al. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Molecular Genetics & Genomic Medicine. PMID 30133189 DOI: 10.1002/Mgg3.453 |
0.327 |
|
| 2018 |
Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29915380 DOI: 10.1038/S41436-018-0040-6 |
0.379 |
|
| 2018 |
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, ... ... Conlin LK, et al. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29907799 DOI: 10.1038/S41436-018-0004-X |
0.321 |
|
| 2018 |
Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, ... ... Conlin LK, et al. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29595809 DOI: 10.1038/Gim.2018.48 |
0.347 |
|
| 2018 |
Conlin LK, Luo M, Weckselblatt B, Rafferty KA, Kalish J, Zackai EH, Dulik MA, Spinner NB. 34. Genome-wide mosaicism, chimerism, and contamination: Recognizing and interpreting genotyping patterns from SNP arrays Cancer Genetics and Cytogenetics. 49. DOI: 10.1016/J.Cancergen.2018.04.095 |
0.309 |
|
| 2017 |
Iwata-Otsubo A, Ritter AL, Weckselbatt B, Ryan NR, Burgess D, Conlin LK, Izumi K. DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. American Journal of Medical Genetics. Part A. PMID 29130632 DOI: 10.1002/Ajmg.A.38517 |
0.38 |
|
| 2017 |
Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP. Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. American Journal of Hematology. PMID 28960434 DOI: 10.1002/Ajh.24917 |
0.382 |
|
| 2017 |
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, ... ... Conlin LK, et al. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. Jama Neurology. PMID 28806457 DOI: 10.1001/Jamaneurol.2017.1714 |
0.304 |
|
| 2017 |
Luo M, Fan J, Wenger TL, Harr MH, Racobaldo M, Mulchandani S, Dubbs H, Zackai EH, Spinner NB, Conlin LK. CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. American Journal of Medical Genetics. Part A. PMID 28504353 DOI: 10.1002/Ajmg.A.38277 |
0.399 |
|
| 2016 |
O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, et al. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27811861 DOI: 10.1038/Gim.2016.152 |
0.326 |
|
| 2016 |
Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K. Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Molecular Genetics & Genomic Medicine. 4: 257-61. PMID 27247953 DOI: 10.1002/Mgg3.200 |
0.341 |
|
| 2016 |
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics. PMID 27181684 DOI: 10.1016/J.Ajhg.2016.03.024 |
0.364 |
|
| 2016 |
Romasko EJ, Biswas S, Devkota B, Vijayakumar J, Jairam S, Thom CS, Dulik MC, Conlin LK, Spinner NB, Krantz ID, Lambert MP. Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study Blood. 128: 3726-3726. DOI: 10.1182/Blood.V128.22.3726.3726 |
0.372 |
|
| 2016 |
Fan J, Mulchandani S, Dulik M, Chen J, Gleason A, Jayaraman P, Sarmady M, Zackai E, Luo M, Spinner N, Conlin L. Assessing Copy Number Variants Involving ACMGG Secondary Finding Genes Identified by Routine Chromosomal SNP Array in a Clinical Pediatric Population Cancer Genetics. 209: 230. DOI: 10.1016/J.Cancergen.2016.05.005 |
0.378 |
|
| 2016 |
Rajagopalan R, Devkota B, Jayaraman V, Biswas S, Spinner NB, Krantz ID, Conlin LK. Copy Number Detection in Exome Sequencing Compared to Chromosomal Microarray in a Clinical Setting Cancer Genetics. 209: 300. DOI: 10.1016/J.Cancergen.2016.04.052 |
0.391 |
|
| 2015 |
Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. American Journal of Medical Genetics. Part A. PMID 26198585 DOI: 10.1002/Ajmg.A.37261 |
0.4 |
|
| 2015 |
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, ... ... Conlin LK, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research. 25: 305-15. PMID 25637381 DOI: 10.1101/Gr.183483.114 |
0.339 |
|
| 2015 |
Ganguly A, Bhatti T, Ganapathy K, Conlin L, MacMullen C, Becker S, Ruchelli E, Stanley C. Abstract 3293: Molecular evidence for a parent of origin effect in pediatric insulinomas Cancer Research. 75: 3293-3293. DOI: 10.1158/1538-7445.Am2015-3293 |
0.358 |
|
| 2014 |
Spinner NB, Conlin LK. Mosaicism and clinical genetics. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166: 397-405. PMID 25424979 DOI: 10.1002/Ajmg.C.31421 |
0.4 |
|
| 2014 |
Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID. Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. Plos One. 9: e108853. PMID 25329894 DOI: 10.1371/Journal.Pone.0108853 |
0.392 |
|
| 2014 |
Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. American Journal of Medical Genetics Part A. 164: 1659-1665. PMID 24700634 DOI: 10.1002/Ajmg.A.36512 |
0.42 |
|
| 2014 |
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P. Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. American Journal of Medical Genetics. Part A. 164: 1765-9. PMID 24677512 DOI: 10.1002/Ajmg.A.36503 |
0.382 |
|
| 2014 |
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. The Journal of Investigative Dermatology. 134: 658-65. PMID 24008425 DOI: 10.1038/Jid.2013.370 |
0.346 |
|
| 2013 |
Shackelford AL, Conlin LK, Hummel M, Spinner NB, Wenger SL. Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood. Case Reports in Genetics. 2013: 857926. PMID 24151566 DOI: 10.1155/2013/857926 |
0.384 |
|
| 2013 |
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. Plos One. 8: e75770. PMID 24086631 DOI: 10.1371/Journal.Pone.0075770 |
0.306 |
|
| 2013 |
Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, et al. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. American Journal of Medical Genetics. Part A. 161: 2134-47. PMID 23897863 DOI: 10.1002/Ajmg.A.36038 |
0.391 |
|
| 2013 |
Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. American Journal of Medical Genetics. Part A. 161: 1929-39. PMID 23804593 DOI: 10.1002/Ajmg.A.36045 |
0.301 |
|
| 2013 |
Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, et al. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. American Journal of Medical Genetics. Part A. 161: 993-1001. PMID 23532898 DOI: 10.1002/Ajmg.A.35831 |
0.388 |
|
| 2013 |
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, ... Conlin LK, et al. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400. PMID 23453666 DOI: 10.1016/J.Ajhg.2013.02.004 |
0.346 |
|
| 2013 |
Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. American Journal of Medical Genetics. Part A. 161: 166-71. PMID 23225330 DOI: 10.1002/Ajmg.A.35625 |
0.419 |
|
| 2012 |
Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. American Journal of Medical Genetics. Part A. 158: 3046-53. PMID 23169773 DOI: 10.1002/Ajmg.A.35726 |
0.358 |
|
| 2012 |
Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. American Journal of Medical Genetics. Part A. 158: 3033-45. PMID 23169682 DOI: 10.1002/Ajmg.A.35500 |
0.357 |
|
| 2012 |
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, et al. Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. American Journal of Medical Genetics. Part A. 158: 2152-61. PMID 22847950 DOI: 10.1002/Ajmg.A.35574 |
0.399 |
|
| 2012 |
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Ring chromosome 20. European Journal of Medical Genetics. 55: 381-7. PMID 22406087 DOI: 10.1016/J.Ejmg.2012.02.004 |
0.389 |
|
| 2012 |
Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. American Journal of Medical Genetics. Part A. 158: 298-308. PMID 22147502 DOI: 10.1002/Ajmg.A.34391 |
0.396 |
|
| 2012 |
Hosain SA, Conlin L, Spinner NB. Ring chromosome 20 epilepsy syndrome: An overview Journal of Pediatric Epilepsy. 1: 5-10. DOI: 10.3233/Pep-2012-003 |
0.332 |
|
| 2011 |
Zhang L, Znoyko I, Costa LJ, Conlin LK, Daber RD, Self SE, Wolff DJ. Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia. Cancer Genetics. 204: 654-65. PMID 22285017 DOI: 10.1016/J.Cancergen.2011.10.012 |
0.377 |
|
| 2011 |
Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI. Mechanisms of ring chromosome formation, ring instability and clinical consequences. Bmc Medical Genetics. 12: 171. PMID 22188645 DOI: 10.1186/1471-2350-12-171 |
0.304 |
|
| 2011 |
Kearney HM, Kearney JB, Conlin LK. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. Clinics in Laboratory Medicine. 31: 595-613, ix. PMID 22118739 DOI: 10.1016/J.Cll.2011.08.003 |
0.396 |
|
| 2011 |
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Mosaic trisomy 17: variable clinical and cytogenetic presentation. American Journal of Medical Genetics. Part A. 155: 2489-95. PMID 21998853 DOI: 10.1002/Ajmg.A.34172 |
0.356 |
|
| 2011 |
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Annals of Neurology. 69: 206-11. PMID 21280092 DOI: 10.1002/Ana.22283 |
0.389 |
|
| 2011 |
Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Journal of Medical Genetics. 48: 1-9. PMID 20972251 DOI: 10.1136/Jmg.2010.080382 |
0.361 |
|
| 2010 |
Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI. Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. American Journal of Medical Genetics. Part A. 152: 2865-9. PMID 20979193 DOI: 10.1002/Ajmg.A.33689 |
0.358 |
|
| 2010 |
Sampson MG, Coughlin CR, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. American Journal of Medical Genetics. Part A. 152: 2618-22. PMID 20799338 DOI: 10.1002/Ajmg.A.33628 |
0.317 |
|
| 2010 |
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, ... ... Conlin LK, et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? European Journal of Medical Genetics. 53: 93-9. PMID 20132918 DOI: 10.1016/J.Ejmg.2010.01.004 |
0.418 |
|
| 2010 |
Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. American Journal of Medical Genetics. Part A. 152: 373-82. PMID 20101690 DOI: 10.1002/Ajmg.A.33219 |
0.363 |
|
| 2010 |
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Human Molecular Genetics. 19: 1263-75. PMID 20053666 DOI: 10.1093/Hmg/Ddq003 |
0.388 |
|
| 2010 |
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin L, Spinner N, Shaikh T, Neumeyer AM, Bliss L, Winder T, Bönnemann CG. P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD Neuromuscular Disorders. 20: 602-603. DOI: 10.1016/J.Nmd.2010.07.026 |
0.365 |
|
| 2009 |
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Research. 19: 1682-90. PMID 19592680 DOI: 10.1101/Gr.083501.108 |
0.383 |
|
| 2009 |
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Human Mutation. 30: 371-8. PMID 19058200 DOI: 10.1002/Humu.20863 |
0.427 |
|
| 2008 |
DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. American Journal of Medical Genetics. Part A. 146: 730-9. PMID 18257100 DOI: 10.1002/Ajmg.A.32216 |
0.412 |
|
| 2008 |
Dashnau JL, Conlin LK, Nelson HC, Vanderkooi JM. Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock. Biochimica Et Biophysica Acta. 1780: 41-50. PMID 17961925 DOI: 10.1016/J.Bbagen.2007.09.011 |
0.611 |
|
| 2007 |
Conlin LK, Nelson HC. The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor. Molecular and Cellular Biology. 27: 1505-15. PMID 17145780 DOI: 10.1128/Mcb.01158-06 |
0.603 |
|
| 2003 |
Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS. Natural variation in human gene expression assessed in lymphoblastoid cells. Nature Genetics. 33: 422-5. PMID 12567189 DOI: 10.1038/Ng1094 |
0.325 |
|
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