| 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 |
|
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