Year |
Citation |
Score |
2023 |
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, ... ... Chong JX, et al. Rare variants in increase risk for isolated hypoplastic left heart syndrome. Hgg Advances. 4: 100232. PMID 37663545 DOI: 10.1016/j.xhgg.2023.100232 |
0.306 |
|
2022 |
Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, et al. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. American Journal of Medical Genetics. Part A. PMID 35716026 DOI: 10.1002/ajmg.a.62874 |
0.344 |
|
2021 |
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, ... ... Chong JX, et al. Biallelic variants in , which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta. Hgg Advances. 2: 100051. PMID 35047842 DOI: 10.1016/j.xhgg.2021.100051 |
0.336 |
|
2021 |
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, ... ... Chong JX, et al. Targeted long-read sequencing identifies missing disease-causing variation. American Journal of Human Genetics. PMID 34216551 DOI: 10.1016/j.ajhg.2021.06.006 |
0.331 |
|
2020 |
Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA, et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders. 82: 109-116. PMID 33279834 DOI: 10.1016/j.parkreldis.2020.11.021 |
0.3 |
|
2020 |
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, et al. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. American Journal of Human Genetics. PMID 32707087 DOI: 10.1016/J.Ajhg.2020.06.014 |
0.365 |
|
2020 |
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, ... ... Chong JX, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 581: 434-443. PMID 32461654 DOI: 10.1038/S41586-020-2308-7 |
0.437 |
|
2020 |
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, ... ... Chong JX, et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32424177 DOI: 10.1038/S41436-020-0811-8 |
0.363 |
|
2019 |
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31723249 DOI: 10.1038/S41436-019-0693-9 |
0.314 |
|
2019 |
Bamshad MJ, Nickerson DA, Chong JX. Mendelian Gene Discovery: Fast and Furious with No End in Sight. American Journal of Human Genetics. 105: 448-455. PMID 31491408 DOI: 10.1016/J.Ajhg.2019.07.011 |
0.377 |
|
2019 |
Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, et al. Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Birth Defects Research. PMID 31328417 DOI: 10.1002/Bdr2.1554 |
0.314 |
|
2019 |
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Human Mutation. PMID 31215115 DOI: 10.1002/Humu.23793 |
0.472 |
|
2019 |
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.454 |
|
2018 |
Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX, Ashley E, Priest JR. Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genetic Epidemiology. PMID 30511478 DOI: 10.1002/Gepi.22176 |
0.389 |
|
2018 |
Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, et al. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. American Journal of Human Genetics. PMID 29805042 DOI: 10.1016/J.Ajhg.2018.04.009 |
0.452 |
|
2018 |
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, ... ... Chong JX, et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. American Journal of Human Genetics. PMID 29394990 DOI: 10.1016/J.Ajhg.2017.12.015 |
0.468 |
|
2018 |
Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Annals of the New York Academy of Sciences. PMID 29377152 DOI: 10.1111/Nyas.13585 |
0.398 |
|
2018 |
Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ. Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. Annals of the American Thoracic Society. PMID 29323929 DOI: 10.1513/Annalsats.201706-451Oc |
0.302 |
|
2018 |
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29300383 DOI: 10.1038/Gim.2017.233 |
0.428 |
|
2017 |
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ, Niedernhofer LJ, et al. ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes. Human Mutation. PMID 29105242 DOI: 10.1002/Humu.23367 |
0.4 |
|
2017 |
Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL. Matchmaker Exchange. Current Protocols in Human Genetics. 95: 9.31.1-9.31.15. PMID 29044468 DOI: 10.1002/Cphg.50 |
0.411 |
|
2017 |
Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C, Bamshad MJ, Lessel D. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. American Journal of Medical Genetics. Part A. PMID 28884921 DOI: 10.1002/Ajmg.A.38406 |
0.447 |
|
2017 |
Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. American Journal of Medical Genetics. Part A. PMID 28544784 DOI: 10.1002/Ajmg.A.38291 |
0.384 |
|
2017 |
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. American Journal of Human Genetics. 100: 695-705. PMID 28475856 DOI: 10.1016/J.Ajhg.2017.04.003 |
0.378 |
|
2017 |
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Scientific Reports. 7: 41803. PMID 28205584 DOI: 10.1038/Srep41803 |
0.448 |
|
2016 |
Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 gene mutation manifesting as resistance to thyrotropin (RTSH) phenotype. Thyroid : Official Journal of the American Thyroid Association. PMID 27821020 DOI: 10.1089/Thy.2016.0469 |
0.433 |
|
2016 |
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, et al. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics. PMID 27040692 DOI: 10.1016/J.Ajhg.2016.01.016 |
0.475 |
|
2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. Plos Genetics. 11: e1005424. PMID 26284524 DOI: 10.1371/Journal.Pgen.1005424 |
0.311 |
|
2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.481 |
|
2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. Plos Genetics. 11: e1005273. PMID 26047157 DOI: 10.1371/Journal.Pgen.1005273 |
0.395 |
|
2015 |
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/J.Ajhg.2015.04.004 |
0.496 |
|
2015 |
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics. 96: 462-73. PMID 25683120 DOI: 10.1016/J.Ajhg.2015.01.003 |
0.481 |
|
2014 |
Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, et al. Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396. PMID 25116239 DOI: 10.1371/Journal.Pone.0104396 |
0.587 |
|
2014 |
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, Bamshad MJ. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. American Journal of Human Genetics. 95: 183-93. PMID 25087612 DOI: 10.1016/J.Ajhg.2014.07.006 |
0.41 |
|
2014 |
Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ. Disclosure of genetic research results to members of a founder population. Journal of Genetic Counseling. 23: 984-91. PMID 24777552 DOI: 10.1007/S10897-014-9721-8 |
0.509 |
|
2014 |
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/J.Ajhg.2014.03.015 |
0.458 |
|
2014 |
Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. American Journal of Human Genetics. 94: 161-75. PMID 24507773 DOI: 10.1016/J.Ajhg.2013.10.024 |
0.433 |
|
2013 |
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circulation. Cardiovascular Genetics. 6: 327-36. PMID 23863954 DOI: 10.1161/Circgenetics.113.000097 |
0.572 |
|
2013 |
Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. American Journal of Human Genetics. 93: 181-90. PMID 23830518 DOI: 10.1016/J.Ajhg.2013.05.028 |
0.591 |
|
2013 |
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics. 92: 632-6. PMID 23561849 DOI: 10.1016/J.Ajhg.2013.03.012 |
0.464 |
|
2012 |
Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Estimating the human mutation rate using autozygosity in a founder population. Nature Genetics. 44: 1277-81. PMID 23001126 DOI: 10.1038/Ng.2418 |
0.584 |
|
2012 |
Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. A population-based study of autosomal-recessive disease-causing mutations in a founder population. American Journal of Human Genetics. 91: 608-20. PMID 22981120 DOI: 10.1016/J.Ajhg.2012.08.007 |
0.592 |
|
2012 |
Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. American Journal of Medical Genetics. Part A. 158: 1229-32. PMID 22495976 DOI: 10.1002/Ajmg.A.35302 |
0.498 |
|
2012 |
Uricchio LH, Chong JX, Ross KD, Ober C, Nicolae DL. Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals. Genetic Epidemiology. 36: 312-9. PMID 22460724 DOI: 10.1002/Gepi.21623 |
0.542 |
|
2011 |
Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C. A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. European Journal of Human Genetics : Ejhg. 19: 1045-51. PMID 21610747 DOI: 10.1038/Ejhg.2011.85 |
0.588 |
|
2011 |
Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Human Molecular Genetics. 20: 1285-9. PMID 21212097 DOI: 10.1093/Hmg/Ddq569 |
0.604 |
|
Low-probability matches (unlikely to be authored by this person) |
2013 |
Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ. Practices and policies of clinical exome sequencing providers: analysis and implications. American Journal of Medical Genetics. Part A. 161: 935-50. PMID 23610049 DOI: 10.1002/Ajmg.A.35942 |
0.297 |
|
2017 |
Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR. Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. Plos Pathogens. 13: e1006703. PMID 29108000 DOI: 10.1371/Journal.Ppat.1006703 |
0.293 |
|
2021 |
Gudmundsson S, Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, ... ... Chong JX, et al. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. PMID 34373650 DOI: 10.1038/s41586-021-03758-y |
0.292 |
|
2015 |
Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26656649 DOI: 10.1038/Gim.2015.161 |
0.285 |
|
2023 |
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A, Starita LM, Talkowski M, Montgomery SB, ... ... Chong JX, et al. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. American Journal of Human Genetics. 110: 1229-1248. PMID 37541186 DOI: 10.1016/j.ajhg.2023.06.009 |
0.284 |
|
2024 |
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Bamshad MJ, Rehm HL. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Biorxiv : the Preprint Server For Biology. PMID 38370830 DOI: 10.1101/2024.02.05.579012 |
0.283 |
|
2021 |
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, ... ... Chong JX, et al. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. PMID 33536625 DOI: 10.1038/s41586-020-03174-8 |
0.278 |
|
2023 |
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A, Diseases GRTETGOR, Starita LM, Talkowski M, ... ... Chong JX, et al. Beyond the exome: what's next in diagnostic testing for Mendelian conditions. Arxiv. PMID 36713248 |
0.276 |
|
2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009 |
0.261 |
|
2013 |
Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ. Practices and Policies of Clinical Exome Sequencing Providers American Journal of Medical Genetics Part A. 9999: 935-950. DOI: 10.1002/J.1552-4833.2013.35942.X |
0.259 |
|
2023 |
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, et al. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. American Journal of Medical Genetics. Part A. PMID 36942736 DOI: 10.1002/ajmg.a.63185 |
0.245 |
|
2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Association of CAV2 and TMC6 variants with lung function. Plos Genetics. DOI: 10.1371/Journal.Pgen.1005273.G003 |
0.245 |
|
2023 |
Patterson K, Chong JX, Chung DD, Lisch W, Møller HU, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, et al. Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1: Molecular basis of Lisch epithelial corneal dystrophy. American Journal of Ophthalmology. PMID 37972748 DOI: 10.1016/j.ajo.2023.10.011 |
0.244 |
|
2023 |
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Marín Gabriel MÁ, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, et al. Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Medrxiv : the Preprint Server For Health Sciences. PMID 36945405 DOI: 10.1101/2023.03.07.23286862 |
0.237 |
|
2023 |
Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M, Chong JX, Bamshad MJ, Innes AM, et al. variants in in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. Hgg Advances. 4: 100198. PMID 37181331 DOI: 10.1016/j.xhgg.2023.100198 |
0.232 |
|
2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Primary results for CAV2 from exome discovery and validation phases. Plos Genetics. DOI: 10.1371/Journal.Pgen.1005273.G001 |
0.224 |
|
2022 |
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, et al. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35148959 DOI: 10.1016/j.gim.2021.12.005 |
0.22 |
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2022 |
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, et al. Variant-level matching for diagnosis and discovery: challenges and opportunities. Human Mutation. PMID 35191117 DOI: 10.1002/humu.24359 |
0.218 |
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2020 |
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. Ebiomedicine. 62: 103075. PMID 33242826 DOI: 10.1016/j.ebiom.2020.103075 |
0.21 |
|
2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Power to discover TMC6 with aSKAT-O for a test of size α under the actual ages of the individuals in the extreme samples in this study. Plos Genetics. DOI: 10.1371/Journal.Pgen.1005273.G005 |
0.208 |
|
2023 |
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, et al. Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Hgg Advances. 4: 100213. PMID 37457373 DOI: 10.1016/j.xhgg.2023.100213 |
0.194 |
|
2018 |
Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, ... ... Chong J, et al. Plain-language medical vocabulary for precision diagnosis. Nature Genetics. 50: 474-476. PMID 29632381 DOI: 10.1038/S41588-018-0096-X |
0.186 |
|
2014 |
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. American Journal of Medical Genetics. Part A. 164: 2240-9. PMID 24942156 DOI: 10.1002/ajmg.a.36633 |
0.178 |
|
2019 |
Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR. Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. Plos Pathogens. 15: e1007588. PMID 30742678 DOI: 10.1371/journal.ppat.1007588 |
0.161 |
|
2024 |
Rahit KMTH, Avramovic V, Chong JX, Tarailo-Graovac M. GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM. Bmc Bioinformatics. 25: 84. PMID 38413851 DOI: 10.1186/s12859-024-05693-x |
0.12 |
|
2024 |
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena H, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, ... Chong JX, et al. Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications. Medrxiv : the Preprint Server For Health Sciences. PMID 38370698 DOI: 10.1101/2024.02.07.24302406 |
0.12 |
|
2023 |
Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, Alexander JL. Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease. Journal of Pediatric Ophthalmology and Strabismus. 60: e35-e37. PMID 37478202 DOI: 10.3928/01913913-20230518-01 |
0.103 |
|
2018 |
Singh N, Chong J, Ho J, Jayachandra S, Cope D, Azimi F, Eslick GD, Wong E. Predictive factors associated with spontaneous passage of coins: A ten-year analysis of paediatric coin ingestion in Australia. International Journal of Pediatric Otorhinolaryngology. 113: 266-271. PMID 30173999 DOI: 10.1016/j.ijporl.2018.08.010 |
0.075 |
|
2018 |
Mustafa U, Dherange P, Reddy R, DeVillier J, Chong J, Ihsan A, Jones R, Duddyala N, Reddy P, Dominic P. Atrial Fibrillation Is Associated With Higher Overall Mortality in Patients With Implantable Cardioverter-Defibrillator: A Systematic Review and Meta-Analysis. Journal of the American Heart Association. 7: e010156. PMID 30554547 DOI: 10.1161/JAHA.118.010156 |
0.059 |
|
2019 |
Wong EH, Al-Witri A, Chong J, Brown SJ, Dexter MAJ, Singh N. An alternative technique for pituitary tumour removal: Sequential endoscopic-microscopic pituitary procedure (SEMPP). Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. PMID 30955948 DOI: 10.1016/j.jocn.2019.03.059 |
0.051 |
|
2021 |
Wagner JK, Yu JH, Chong JX, Royal CD, Bamshad MJ. Centering Equity in . Hgg Advances. 2: 100048. PMID 35047840 DOI: 10.1016/j.xhgg.2021.100048 |
0.046 |
|
2015 |
Chong JX, Lai S, Yang H. Chitosan combined with calcium chloride impacts fresh-cut honeydew melon by stabilising nanostructures of sodium-carbonate-soluble pectin Food Control. 53: 195-205. DOI: 10.1016/J.Foodcont.2014.12.035 |
0.034 |
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2020 |
Wong E, Deboever N, Chong J, Sritharan N, Singh N. Isolated Topical Decongestion of the Nasal Septum and Swell Body Is Effective in Improving Nasal Airflow. American Journal of Rhinology & Allergy. 1945892420902913. PMID 32008353 DOI: 10.1177/1945892420902913 |
0.027 |
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2020 |
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, et al. Response to Hall et al. American Journal of Human Genetics. 107: 1188-1189. PMID 33275912 DOI: 10.1016/j.ajhg.2020.11.006 |
0.01 |
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2015 |
Schaefer N, Chong J, Griffin A, Little A, Gochee P, Dixon N. Schneiderian-type papilloma of the middle ear: A review of the literature. International Surgery. PMID 25564042 DOI: 10.9738/INTSURG-D-14-00242.1 |
0.01 |
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2007 |
Pong BK, Elim HI, Chong JX, Ji W, Trout BL, Lee JY. New insights on the nanoparticle growth mechanism in the citrate reduction of gold(III) salt: Formation of the Au nanowire intermediate and its nonlinear optical properties Journal of Physical Chemistry C. 111: 6281-6287. DOI: 10.1021/jp068666o |
0.01 |
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