Works by Lupski, James

Results: 295

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
By:
- Chander, Varuna;
- Mahmoud, Medhat;
- Hu, Jianhong;
- Dardas, Zain;
- Grochowski, Christopher M.;
- Dawood, Moez;
- Khayat, Michael M.;
- Li, He;
- Li, Shoudong;
- Jhangiani, Shalini;
- Korchina, Viktoriya;
- Shen, Hua;
- Weissenberger, George;
- Meng, Qingchang;
- Gingras, Marie‐Claude;
- Muzny, Donna M.;
- Doddapaneni, Harsha;
- Posey, Jennifer E.;
- Lupski, James R.;
- Sabo, Aniko
Publication type:
Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
By:
- Rodrigues, Eliete da S.;
- Griffith, Sean;
- Martin, Renan;
- Antonescu, Corina;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Doheny, Kimberly F.;
- Lupski, James R.;
- Valle, David;
- Bamshad, Michael J.;
- Hamosh, Ada;
- Sheffer, Assaf;
- Chong, Jessica X.;
- Einhorn, Yaron;
- Cupak, Miro;
- Sobreira, Nara
Publication type:
Article
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190
By:
- Khayat, Michael M.;
- Li, He;
- Chander, Varuna;
- Hu, Jianhong;
- Hansen, Adam W.;
- Li, Shoudong;
- Traynelis, Josh;
- Shen, Hua;
- Weissenberger, George;
- Stossi, Fabio;
- Johnson, Hannah L.;
- Lupski, James R.;
- Posey, Jennifer E.;
- Sabo, Aniko;
- Meng, Qingchang;
- Murdock, David R.;
- Wangler, Michael;
- Gibbs, Richard A.
Publication type:
Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Published in:
Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
By:
- Pettersson, Maria;
- Grochowski, Christopher M.;
- Wincent, Josephine;
- Eisfeldt, Jesper;
- Breman, Amy M.;
- Cheung, Sau W.;
- Krepischi, Ana C. V.;
- Rosenberg, Carla;
- Lupski, James R.;
- Ottosson, Jesper;
- Lovmar, Lovisa;
- Gacic, Jelena;
- Lundberg, Elisabeth S.;
- Nilsson, Daniel;
- Carvalho, Claudia M. B.;
- Lindstrand, Anna
Publication type:
Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537
By:
- Grochowski, Christopher M.;
- Gu, Shen;
- Yuan, Bo;
- TCW, Julia;
- Brennand, Kristen J.;
- Sebat, Jonathan;
- Malhotra, Dheeraj;
- McCarthy, Shane;
- Rudolph, Uwe;
- Lindstrand, Anna;
- Chong, Zechen;
- Levy, Deborah L.;
- Lupski, James R.;
- Carvalho, Claudia M. B.
Publication type:
Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
By:
- Nilsson, Daniel;
- Pettersson, Maria;
- Gustavsson, Peter;
- Förster, Alisa;
- Hofmeister, Wolfgang;
- Wincent, Josephine;
- Zachariadis, Vasilios;
- Anderlid, Britt‐Marie;
- Nordgren, Ann;
- Mäkitie, Outi;
- Wirta, Valtteri;
- Käller, Max;
- Vezzi, Francesco;
- Lupski, James R;
- Nordenskjöld, Magnus;
- Syk Lundberg, Elisabeth;
- Carvalho, Claudia M. B.;
- Lindstrand, Anna
Publication type:
Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 804, doi. 10.1002/humu.23012
By:
- Fieremans, Nathalie;
- Esch, Hilde;
- Holvoet, Maureen;
- Goethem, Gert;
- Devriendt, Koenraad;
- Rosello, Monica;
- Mayo, Sonia;
- Martinez, Francisco;
- Jhangiani, Shalini;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lupski, James R.;
- Vermeesch, Joris R.;
- Marynen, Peter;
- Froyen, Guy
Publication type:
Article
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Published in:
Human Mutation, 2016, v. 37, n. 3, p. 231, doi. 10.1002/humu.22944
By:
- Campbell, Ian M.;
- Gambin, Tomasz;
- Jhangiani, Shalini N.;
- Grove, Megan L.;
- Veeraraghavan, Narayanan;
- Muzny, Donna M.;
- Shaw, Chad A.;
- Gibbs, Richard A.;
- Boerwinkle, Eric;
- Yu, Fuli;
- Lupski, James R.
Publication type:
Article
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 160, doi. 10.1002/humu.22929
By:
- Gu, Shen;
- Posey, Jennifer E.;
- Yuan, Bo;
- Carvalho, Claudia M.B.;
- Luk, H.M.;
- Erikson, Kelly;
- Lo, Ivan F.M.;
- Leung, Gordon K.C.;
- Pickering, Curtis R.;
- Chung, Brian H.Y.;
- Lupski, James R.
Publication type:
Article
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
Published in:
Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626
By:
- Zernant, Jana;
- Collison, Frederick T.;
- Lee, Winston;
- Fishman, Gerald A.;
- Noupuu, Kalev;
- Yuan, Bo;
- Cai, Carolyn;
- Lupski, James R.;
- Yannuzzi, Lawrence A.;
- Tsang, Stephen H.;
- Allikmets, Rando
Publication type:
Article
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N).
Published in:
Human Mutation, 2014, v. 35, n. 4, p. 512, doi. 10.1002/humu.22527
By:
- McLaughlin, Heather M.;
- Sakaguchi, Reiko;
- Giblin, William;
- Wilson, Thomas E.;
- Biesecker, Leslie;
- Lupski, James R.;
- Talbot, Kevin;
- Vance, Jeffery M.;
- Züchner, Stephan;
- Lee, Yi‐Chung;
- Kennerson, Marina;
- Hou, Ya‐Ming;
- Nicholson, Garth;
- Antonellis, Anthony
Publication type:
Article
Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1439, doi. 10.1002/humu.22387
By:
- Ligt, Joep;
- Boone, Philip M.;
- Pfundt, Rolph;
- Vissers, Lisenka E.L.M.;
- Richmond, Todd;
- Geoghegan, Joel;
- O'Moore, Kathleen;
- Leeuw, Nicole;
- Shaw, Christine;
- Brunner, Han G.;
- Lupski, James R.;
- Veltman, Joris A.;
- Hehir‐Kwa, Jayne Y.
Publication type:
Article
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Published in:
2014
By:
- Gonzaga-Jauregui, Claudia;
- Mir, Sabina;
- Penney, Samantha;
- Jhangiani, Shalini;
- Midgen, Craig;
- Finegold, Milton;
- Muzny, Donna M;
- Wang, Min;
- Bacino, Carlos A;
- Gibbs, Richard A;
- Lupski, James R;
- Kellermayer, Richard;
- Hanchard, Neil A
Publication type:
journal article
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Published in:
Human Genetics, 2023, v. 142, n. 6, p. 721, doi. 10.1007/s00439-023-02550-4
By:
- Zemet, Roni;
- Du, Haowei;
- Gambin, Tomasz;
- Lupski, James R.;
- Liu, Pengfei;
- Stankiewicz, Paweł
Publication type:
Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
By:
- Du, Renqian;
- Dinckan, Nuriye;
- Song, Xiaofei;
- Coban-Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Guven, Yeliz;
- Aktoren, Oya;
- Kayserili, Hulya;
- Petty, Lauren E.;
- Muzny, Donna M.;
- Below, Jennifer E.;
- Boerwinkle, Eric;
- Wu, Nan;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Letra, Ariadne;
- Uyguner, Z. Oya
Publication type:
Article
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).
Published in:
JBMR Plus, 2020, v. 4, n. 3, p. 1, doi. 10.1002/jbm4.10335
By:
- Chen, Shan;
- Jain, Mahim;
- Jhangiani, Shalini;
- Akdemir, Zeynep C;
- Campeau, Philippe M;
- Klein, Robert F;
- Nielson, Carrie;
- Dai, Hongzheng;
- Muzny, Donna M;
- Boerwinkle, Eric;
- Gibbs, Richard A;
- Orwoll, Eric S;
- Lupski, James R;
- Posey, Jennifer E;
- Lee, Brendan
Publication type:
Article
Excess folic acid intake increases DNA de novo point mutations.
Published in:
Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-022-00512-0
By:
- Cao, Xuanye;
- Xu, Jianfeng;
- Lin, Ying L.;
- Cabrera, Robert M.;
- Chen, Qiuying;
- Zhang, Chaofan;
- Steele, John W.;
- Han, Xiao;
- Gross, Steven S.;
- Wlodarczyk, Bogdan J.;
- Lupski, James R.;
- Li, Wei;
- Wang, Hongyan;
- Finnell, Richard H.;
- Lei, Yunping
Publication type:
Article
Cognitive Phenotypes and Genomic Copy Number Variations.
Published in:
2015
By:
- Lupski, James R.
Publication type:
Editorial
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.
Published in:
2013
By:
- Green, Robert C;
- Lupski, James R;
- Biesecker, Leslie G
Publication type:
journal article
Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but Not Exceptional.
Published in:
2013
By:
- Green, Roberte C.;
- Lupski, James R.;
- Biesecker, Leslie G.
Publication type:
Opinion
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63455
By:
- Bhola, Priya T.;
- Mishra, Radha;
- Posey, Jennifer E.;
- Hamilton, Leslie E.;
- Graham, Gail E.;
- Punetha, Jaya;
- Lupski, James R.;
- Boycott, Kym M.;
- D'Amours, Damien;
- Kernohan, Kristin D.
Publication type:
Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
By:
- Penon‐Portmann, Monica;
- Eldomery, Mohammad K.;
- Potocki, Lorraine;
- Marafi, Dana;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Harel, Tamar;
- Grochowski, Christopher M.;
- Loucks, Hailey;
- Devine, Walter Patrick;
- Van Ziffle, Jessica;
- Doherty, Dan;
- Lupski, James R.;
- Shieh, Joseph T.
Publication type:
Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
By:
- Taşdelen, Elifcan;
- Calame, Daniel G.;
- Akay, Gulsen;
- Mitani, Tadahiro;
- Fatih, Jawid M.;
- Herman, Isabella;
- Du, Haowei;
- Coban‐Akdemir, Zeynep;
- Marafi, Dana;
- Jhangiani, Shalini N.;
- Posey, Jennifer E.;
- Gibbs, Richard A.;
- Altıparmak, Taylan;
- Kutlay, Nüket Yürür;
- Lupski, James R.;
- Pehlivan, Davut
Publication type:
Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
By:
- Herman, Isabella;
- Jolly, Angad;
- Du, Haowei;
- Dawood, Moez;
- Abdel‐Salam, Ghada M. H.;
- Marafi, Dana;
- Mitani, Tadahiro;
- Calame, Daniel G.;
- Coban‐Akdemir, Zeynep;
- Fatih, Jawid M.;
- Hegazy, Ibrahim;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Posey, Jennifer E.;
- Lupski, James R.
Publication type:
Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
By:
- Abdel‐Salam, Ghada M. H.;
- Duan, Ruizhi;
- Abdel‐Hamid, Mohamed S.;
- Sayed, Inas S. M.;
- Jhangiani, Shalini N.;
- Khan, Ziad;
- Du, Haowei;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Lupski, James R.
Publication type:
Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
By:
- Zhang, Chaofan;
- Mazzeu, Juliana F.;
- Eisfeldt, Jesper;
- Grochowski, Christopher M.;
- White, Janson;
- Akdemir, Zeynep C.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lindstrand, Anna;
- Lupski, James R.;
- Sutton, V. Reid;
- Carvalho, Claudia M. B.
Publication type:
Article
Risk of sudden cardiac death in EXOSC5‐related disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
By:
- Calame, Daniel G.;
- Herman, Isabella;
- Fatih, Jawid M.;
- Du, Haowei;
- Akay, Gulsen;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep;
- Milewicz, Dianna M.;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Hunter, Jill V.;
- Fan, Yuxin;
- Lupski, James R.;
- Miyake, Christina Y.
Publication type:
Article
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
By:
- Efthymiou, Stephanie;
- Herman, Isabella;
- Rahman, Fatima;
- Anwar, Najwa;
- Maroofian, Reza;
- Yip, Janice;
- Mitani, Tadahiro;
- Calame, Daniel G.;
- Hunter, Jill V.;
- Sutton, V. Reid;
- Gulec, Elif;
- Duan, Ruizhi;
- Fatih, Jawid M.;
- Marafi, Dana;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Maqbool, Shazia;
- Lupski, James R.
Publication type:
Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
By:
- Duan, Ruizhi;
- Saadi, Nebal Waill;
- Grochowski, Christopher M.;
- Bhadila, Ghalia;
- Faridoun, Afnan;
- Mitani, Tadahiro;
- Du, Haowei;
- Fatih, Jawid M.;
- Jhangiani, Shalini N.;
- Akdemir, Zeynep C.;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Posey, Jennifer E.;
- Marafi, Dana;
- Lupski, James R.
Publication type:
Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
By:
- Saad, Ahmed K.;
- Maraf, Dana;
- Mitani, Tadahiro;
- Du, Haowei;
- Rafat, Karima;
- Fatih, Jawid M.;
- Jhangiani, Shalini N.;
- Coban-Akdemir, Zeynep;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Hunter, Jill V.;
- Posey, Jennifer E.;
- Zaki, Maha S.;
- Lupski, James R.
Publication type:
Article
Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 990, doi. 10.1002/ajmg.a.62049
By:
- Mubungu, Gerrye;
- Makay, Prince;
- Boujemla, Bouchra;
- Yanda, Stephane;
- Posey, Jennifer E.;
- Lupski, James R.;
- Bours, Vincent;
- Lukusa, Prosper;
- Devriendt, Koenraad;
- Lumaka, Aimé
Publication type:
Article
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
By:
- Wild, K. Taylor;
- Gordon, Tia;
- Bhoj, Elizabeth J.;
- Du, Haowei;
- Jhangiani, Shalini N.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Scott, Daryl A.;
- Zackai, Elaine H.
Publication type:
Article
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2077, doi. 10.1002/ajmg.a.61741
By:
- Franciskovich, Rachel;
- Soler‐Alfonso, Claudia;
- Neira‐Fresneda, Juanita;
- Lupski, James R.;
- McCann‐Crosby, Bonnie;
- Potocki, Lorraine
Publication type:
Article
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1143, doi. 10.1002/ajmg.a.61539
By:
- Plesser Duvdevani, Morasha;
- Pettersson, Maria;
- Eisfeldt, Jesper;
- Avraham, Ortal;
- Dagan, Judith;
- Frumkin, Ayala;
- Lupski, James R.;
- Lindstrand, Anna;
- Harel, Tamar
Publication type:
Article
Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
By:
- Assia Batzir, Nurit;
- Posey, Jennifer E.;
- Song, Xiaofei;
- Akdemir, Zeynep Coban;
- Rosenfeld, Jill A.;
- Brown, Chester W.;
- Chen, Emily;
- Holtrop, Shannon G.;
- Mizerik, Elizabeth;
- Nieto Moreno, Margarita;
- Payne, Katelyn;
- Raas‐Rothschild, Annick;
- Scott, Richard;
- Vernon, Hilary J.;
- Zadeh, Neda;
- Lupski, James R.;
- Sutton, V. Reid
Publication type:
Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
By:
- Karaca, Ender;
- Posey, Jennifer E.;
- Bostwick, Bret;
- Liu, Pengfei;
- Gezdirici, Alper;
- Yesil, Gozde;
- Coban Akdemir, Zeynep;
- Bayram, Yavuz;
- Harms, Frederike L.;
- Meinecke, Peter;
- Alawi, Malik;
- Bacino, Carlos A.;
- Sutton, V. Reid;
- Kortüm, Fanny;
- Lupski, James R.
Publication type:
Article
Objective measures of sleep disturbances in children with Potocki–Lupski syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1982, doi. 10.1002/ajmg.a.61307
By:
- Kaplan, Kevin;
- McCool, Caroline;
- Lupski, James R.;
- Glaze, Daniel;
- Potocki, Lorraine
Publication type:
Article
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
By:
- Lumaka, Aimé;
- Race, Valerie;
- Peeters, Hilde;
- Corveleyn, Anniek;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Song, Xiaofei;
- Mubungu, Gerrye;
- Posey, Jennifer;
- Lupski, James R.;
- Vermeesch, Joris R.;
- Lukusa, Prosper;
- Devriendt, Koenraad
Publication type:
Article
The phenotypic spectrum of Xia‐Gibbs syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1315, doi. 10.1002/ajmg.a.38699
By:
- Jiang, Yunyun;
- Wangler, Michael F.;
- McGuire, Amy L.;
- Lupski, James R.;
- Posey, Jennifer E.;
- Khayat, Michael M.;
- Murdock, David R.;
- Sanchez‐Pulido, Luis;
- Ponting, Chris P.;
- Xia, Fan;
- Hunter, Jill V.;
- Meng, Qingchang;
- Murugan, Mullai;
- Gibbs, Richard A.
Publication type:
Article
A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
By:
- Dinckan, Nuriye;
- Du, Renqian;
- Akdemir, Zeynep C.;
- Bayram, Yavuz;
- Jhangiani, Shalini N.;
- Doddapaneni, Harsha;
- Hu, Jianhong;
- Muzny, Donna M.;
- Guven, Yeliz;
- Aktoren, Oya;
- Kayserili, Hulya;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Uyguner, Zehra O.;
- Letra, Ariadne
Publication type:
Article
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Published in:
NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 243, doi. 10.1385/NMM:8:1-2:243
By:
- Szigeti, Kinga;
- Nelis, Eva;
- Lupski, James
Publication type:
Article
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
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2006
By:
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Publication type:
Editorial
SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
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BMC Genomics, 2017, v. 18, p. 29, doi. 10.1186/s12864-017-4021-y
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Publication type:
Article
Structural variation mutagenesis of the human genome: Impact on disease and evolution.
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Environmental & Molecular Mutagenesis, 2015, v. 56, n. 5, p. 419, doi. 10.1002/em.21943
By:
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Publication type:
Article
Schizophrenia: Incriminating genomic evidence.
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Nature, 2008, v. 455, n. 7210, p. 178, doi. 10.1038/455178a
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Publication type:
Article
The complete genome of an individual by massively parallel DNA sequencing.
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Nature, 2008, v. 452, n. 7189, p. 872, doi. 10.1038/nature06884
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- Ye Yuan
Publication type:
Article
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
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Nature, 2007, v. 448, n. 7149, p. 68, doi. 10.1038/nature05876
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Publication type:
Article
Completing the map of human genetic variation.
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Nature, 2007, v. 447, n. 7141, p. 161, doi. 10.1038/447161a
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Publication type:
Article
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Published in:
2006
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Publication type:
Letter
A large CRISPR-induced bystander mutation causes immune dysregulation.
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Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0321-x
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Publication type:
Article