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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z
By:
- Dawes, Ruebena;
- Lek, Monkol;
- Cooper, Sandra T.
Publication type:
Article
Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0082-y
By:
- Chougule, Rohit A.;
- Shah, Kinjal;
- Moharram, Sausan A.;
- Vallon-Christersson, Johan;
- Kazi, Julhash U.
Publication type:
Article
Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine.
Published in:
2019
By:
- Yehia, Lamis;
- Eng, Charis
Publication type:
Editorial
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
By:
- Leblond, Claire S;
- Cliquet, Freddy;
- Carton, Coralie;
- Huguet, Guillaume;
- Mathieu, Alexandre;
- Kergrohen, Thomas;
- Buratti, Julien;
- Lemière, Nathalie;
- Cuisset, Laurence;
- Bienvenu, Thierry;
- Boland, Anne;
- Deleuze, Jean-François;
- Stora, Tormodur;
- Biskupstoe, Rannva;
- Halling, Jónrit;
- Andorsdóttir, Guðrið;
- Billstedt, Eva;
- Gillberg, Christopher;
- Bourgeron, Thomas
Publication type:
Article
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0103-x
By:
- Byrne, Alicia B.;
- Arts, Peer;
- Polyak, Steven W.;
- Feng, Jinghua;
- Schreiber, Andreas W.;
- Kassahn, Karin S.;
- Hahn, Christopher N.;
- Mordaunt, Dylan A.;
- Fletcher, Janice M.;
- Lipsett, Jillian;
- Bratkovic, Drago;
- Booker, Grant W.;
- Smith, Nicholas J.;
- Scott, Hamish S.
Publication type:
Article
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. 1, doi. 10.1038/s41525-019-0105-8
By:
- Milko, Laura V.;
- Chen, Flavia;
- Chan, Kee;
- Brower, Amy M.;
- Agrawal, Pankaj B.;
- Beggs, Alan H.;
- Berg, Jonathan S.;
- Brenner, Steven E.;
- Holm, Ingrid A.;
- Koenig, Barbara A.;
- Parad, Richard B.;
- Powell, Cynthia M.;
- Kingsmore, Stephen F.
Publication type:
Article
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0104-9
By:
- Lauhasurayotin, Supanun;
- Cuvelier, Geoff D.;
- Klaassen, Robert J.;
- Fernandez, Conrad V.;
- Pastore, Yves D.;
- Abish, Sharon;
- Rayar, Meera;
- Steele, MacGregor;
- Jardine, Lawrence;
- Breakey, Vicky R.;
- Brossard, Josee;
- Sinha, Roona;
- Silva, Mariana;
- Goodyear, Lisa;
- Lipton, Jeffrey H.;
- Michon, Bruno;
- Corriveau-Bourque, Catherine;
- Sung, Lillian;
- Shabanova, Iren;
- Li, Hongbing
Publication type:
Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
By:
- Steward, Charles A.;
- Roovers, Jolien;
- Suner, Marie-Marthe;
- Gonzalez, Jose M.;
- Uszczynska-Ratajczak, Barbara;
- Pervouchine, Dmitri;
- Fitzgerald, Stephen;
- Viola, Margarida;
- Stamberger, Hannah;
- Hamdan, Fadi F.;
- Ceulemans, Berten;
- Leroy, Patricia;
- Nava, Caroline;
- Lepine, Anne;
- Tapanari, Electra;
- Keiller, Don;
- Abbs, Stephen;
- Sanchis-Juan, Alba;
- Grozeva, Detelina;
- Rogers, Anthony S.
Publication type:
Article
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Published in:
2019
By:
- Corbett, Mark A.;
- van Eyk, Clare L.;
- Webber, Dani L.;
- Bent, Stephen J.;
- Newman, Morgan;
- Harper, Kelly;
- Berry, Jesia G.;
- Azmanov, Dimitar N.;
- Woodward, Karen J.;
- Gardner, Alison E.;
- Slee, Jennie;
- Pérez-Jurado, Luís A.;
- MacLennan, Alastair H.;
- Gecz, Jozef
Publication type:
Correction Notice
RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0084-9
By:
- Farmanbar, Amir;
- Kneller, Robert;
- Firouzi, Sanaz
Publication type:
Article
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0083-x
By:
- Chan, Ada J. S.;
- Cytrynbaum, Cheryl;
- Hoang, Ny;
- Ambrozewicz, Patricia M.;
- Weksberg, Rosanna;
- Drmic, Irene;
- Ritzema, Anne;
- Schachar, Russell;
- Walker, Susan;
- Uddin, Mohammed;
- Zarrei, Mehdi;
- Yuen, Ryan K. C.;
- Scherer, Stephen W.
Publication type:
Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
By:
- Safarova, Maya S.;
- Satterfield, Benjamin A.;
- Fan, Xiao;
- Austin, Erin E.;
- Ye, Zhan;
- Bastarache, Lisa;
- Zheng, Neil;
- Ritchie, Marylyn D.;
- Borthwick, Kenneth M.;
- Williams, Marc S.;
- Larson, Eric B.;
- Scrol, Aaron;
- Jarvik, Gail P.;
- Crosslin, David R.;
- Leppig, Kathleen;
- Rasmussen-Torvik, Laura J.;
- Pendergrass, Sarah A.;
- Sturm, Amy C.;
- Namjou, Bahram;
- Shah, Amy Sanghavi
Publication type:
Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
By:
- Steward, Charles A.;
- Roovers, Jolien;
- Suner, Marie-Marthe;
- Gonzalez, Jose M.;
- Uszczynska-Ratajczak, Barbara;
- Pervouchine, Dmitri;
- Fitzgerald, Stephen;
- Viola, Margarida;
- Stamberger, Hannah;
- Hamdan, Fadi F.;
- Ceulemans, Berten;
- Leroy, Patricia;
- Nava, Caroline;
- Lepine, Anne;
- Tapanari, Electra;
- Keiller, Don;
- Abbs, Stephen;
- Sanchis-Juan, Alba;
- Grozeva, Detelina;
- Rogers, Anthony S.
Publication type:
Article
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0101-z
By:
- van Eyk, C. L.;
- Corbett, M. A.;
- Frank, M. S. B.;
- Webber, D. L.;
- Newman, M.;
- Berry, J. G.;
- Harper, K.;
- Haines, B. P.;
- McMichael, G.;
- Woenig, J. A.;
- MacLennan, A. H.;
- Gecz, J.
Publication type:
Article
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6
By:
- Owaidah, Tarek;
- Saleh, Mahasen;
- Baz, Batoul;
- Abdulaziz, Basma;
- Alzahrani, Hazza;
- Tarawah, Ahmed;
- Almusa, Abdulrahman;
- AlNounou, Randa;
- AbaAlkhail, Hala;
- Al-Numair, Nouf;
- Altahan, Rahaf;
- Abouelhoda, Mohammed;
- Alamoudi, Thamer;
- Monies, Dorota;
- Jabaan, Amjad;
- Al Tassan, Nada
Publication type:
Article
Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0102-y
By:
- Park, C. S.;
- De, T.;
- Xu, Y.;
- Zhong, Y.;
- Smithberger, E.;
- Alarcon, C.;
- Gamazon, E. R.;
- Perera, M. A.
Publication type:
Article
Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0077-8
By:
- Fan, Shicai;
- Tang, Jianxiong;
- Li, Nan;
- Zhao, Ying;
- Ai, Rizi;
- Zhang, Kai;
- Wang, Mengchi;
- Du, Wei;
- Wang, Wei
Publication type:
Article
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0076-1
By:
- Scocchia, Alicia;
- Wigby, Kristen M.;
- Masser-Frye, Diane;
- Del Campo, Miguel;
- Galarreta, Carolina I.;
- Thorpe, Erin;
- McEachern, Julia;
- Robinson, Keisha;
- Gross, Andrew;
- Ajay, Subramanian S.;
- Rajan, Vani;
- Perry, Denise L.;
- Belmont, John W.;
- Bentley, David R.;
- Jones, Marilyn C.;
- Taft, Ryan J.
Publication type:
Article
Tracking human genes along the translational continuum.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0100-0
By:
- Lee, Kyubum;
- Clyne, Mindy;
- Yu, Wei;
- Lu, Zhiyong;
- Khoury, Muin J.
Publication type:
Article
Genome-wide association study for proliferative diabetic retinopathy in Africans.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0094-7
By:
- Liu, Chang;
- Chen, Guanjie;
- Bentley, Amy R.;
- Doumatey, Ayo;
- Zhou, Jie;
- Adeyemo, Adebowale;
- Yang, Jinkui;
- Rotimi, Charles
Publication type:
Article
Can one overcome "unhealthy genes"?
Published in:
2019
By:
- Lazarte, Julieta;
- Hegele, Robert A.
Publication type:
Editorial
A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0097-4
By:
- Rosa, Mickael;
- Chignon, Arnaud;
- Li, Zhonglin;
- Boulanger, Marie-Chloé;
- Arsenault, Benoit J.;
- Bossé, Yohan;
- Thériault, Sébastien;
- Mathieu, Patrick
Publication type:
Article
Impact of free cancer predisposition cascade genetic testing on uptake in Singapore.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0096-5
By:
- Courtney, Eliza;
- Chok, Amanda Kay-Lyn;
- Ting Ang, Zoe Li;
- Shaw, Tarryn;
- Li, Shao-Tzu;
- Yuen, Jeanette;
- Ngeow, Joanne
Publication type:
Article
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0095-6
By:
- Sugunaraj, J. P.;
- Brosius, H. M.;
- Murray, M. F.;
- Manickam, K.;
- Stamm, J. A.;
- Carey, D. J.;
- Mirshahi, U. L.
Publication type:
Article
A large data resource of genomic copy number variation across neurodevelopmental disorders.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0098-3
By:
- Zarrei, Mehdi;
- Burton, Christie L.;
- Engchuan, Worrawat;
- Young, Edwin J.;
- Higginbotham, Edward J.;
- MacDonald, Jeffrey R.;
- Trost, Brett;
- Chan, Ada J. S.;
- Walker, Susan;
- Lamoureux, Sylvia;
- Heung, Tracy;
- Mojarad, Bahareh A.;
- Kellam, Barbara;
- Paton, Tara;
- Faheem, Muhammad;
- Miron, Karin;
- Lu, Chao;
- Wang, Ting;
- Samler, Kozue;
- Wang, Xiaolin
Publication type:
Article
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0088-5
By:
- Keskitalo, Salla;
- Haapaniemi, Emma M.;
- Glumoff, Virpi;
- Liu, Xiaonan;
- Lehtinen, Ville;
- Fogarty, Christopher;
- Rajala, Hanna;
- Chiang, Samuel C.;
- Mustjoki, Satu;
- Kovanen, Panu;
- Lohi, Jouko;
- Bryceson, Yenan T.;
- Seppänen, Mikko;
- Kere, Juha;
- Heiskanen, Kaarina;
- Varjosalo, Markku
Publication type:
Article
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0093-8
By:
- Feliciano, Pamela;
- Zhou, Xueya;
- Astrovskaya, Irina;
- Turner, Tychele N.;
- Wang, Tianyun;
- Brueggeman, Leo;
- Barnard, Rebecca;
- Hsieh, Alexander;
- Snyder, LeeAnne Green;
- Muzny, Donna M.;
- Sabo, Aniko;
- Gibbs, Richard A.;
- Eichler, Evan E.;
- O'Roak, Brian J.;
- Michaelson, Jacob J.;
- Volfovsky, Natalia;
- Shen, Yufeng;
- Chung, Wendy K.
Publication type:
Article
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0092-9
By:
- Sarret, Catherine;
- Ashkavand, Zahra;
- Paules, Evan;
- Dorboz, Imen;
- Pediaditakis, Peter;
- Sumner, Susan;
- Eymard-Pierre, Eléonore;
- Francannet, Christine;
- Krupenko, Natalia I.;
- Boespflug-Tanguy, Odile;
- Krupenko, Sergey A.
Publication type:
Article
Fetal sex determination in twin pregnancies using non-invasive prenatal testing.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0089-4
By:
- Villela, Darine;
- Che, Huiwen;
- Van Ghelue, Marijke;
- Dehaspe, Luc;
- Brison, Nathalie;
- Van Den Bogaert, Kris;
- Devriendt, Koen;
- Lewi, Liesbeth;
- Bayindir, Baran;
- Vermeesch, Joris Robert
Publication type:
Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
By:
- Yu, Mullin Ho-Chung;
- Tsang, Mandy Ho-Yin;
- Lai, Sophie;
- Ho, Matthew Sai-Pong;
- Tse, Donald M. L.;
- Willis, Brooke;
- Kwong, Anna Ka-Yee;
- Chou, Yen-Yin;
- Lin, Shuan-Pei;
- Quinzii, Catarina M;
- Hwu, Wuh-Liang;
- Chien, Yin-Hsiu;
- Kuo, Pao-Lin;
- Chan, Victor Chi-Man;
- Tsoi, Cheung;
- Chong, Shuk-Ching;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Mak, Christopher Chun-Yu;
- Yeung, Kit-San
Publication type:
Article
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z
By:
- Dawes, Ruebena;
- Lek, Monkol;
- Cooper, Sandra T.
Publication type:
Article
Implementation of genomics in medical practice to deliver precision medicine for an Asian population.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0085-8
By:
- Bylstra, Yasmin;
- Davila, Sonia;
- Lim, Weng Khong;
- Wu, Ryanne;
- Teo, Jing Xian;
- Kam, Sylvia;
- Lysaght, Tamra;
- Rozen, Steve;
- Teh, Bin Tean;
- Yeo, Khung Keong;
- Cook, Stuart A.;
- Tan, Patrick;
- Jamuar, Saumya Shekhar
Publication type:
Article
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Published in:
2019
By:
- Corbett, Mark A.;
- van Eyk, Clare L.;
- Webber, Dani L.;
- Bent, Stephen J.;
- Newman, Morgan;
- Harper, Kelly;
- Berry, Jesia G.;
- Azmanov, Dimitar N.;
- Woodward, Karen J.;
- Gardner, Alison E.;
- Slee, Jennie;
- Pérez-Jurado, Luís A.;
- MacLennan, Alastair H.;
- Gecz, Jozef
Publication type:
Correction Notice
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0083-x
By:
- Chan, Ada J. S.;
- Cytrynbaum, Cheryl;
- Hoang, Ny;
- Ambrozewicz, Patricia M.;
- Weksberg, Rosanna;
- Drmic, Irene;
- Ritzema, Anne;
- Schachar, Russell;
- Walker, Susan;
- Uddin, Mohammed;
- Zarrei, Mehdi;
- Yuen, Ryan K. C.;
- Scherer, Stephen W.
Publication type:
Article
RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0084-9
By:
- Farmanbar, Amir;
- Kneller, Robert;
- Firouzi, Sanaz
Publication type:
Article
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0087-6
By:
- Bertelsen, Birgitte;
- Tuxen, Ida Viller;
- Yde, Christina Westmose;
- Gabrielaite, Migle;
- Torp, Mathias Husted;
- Kinalis, Savvas;
- Oestrup, Olga;
- Rohrberg, Kristoffer;
- Spangaard, Iben;
- Santoni-Rugiu, Eric;
- Wadt, Karin;
- Mau-Sorensen, Morten;
- Lassen, Ulrik;
- Nielsen, Finn Cilius
Publication type:
Article
Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0082-y
By:
- Chougule, Rohit A.;
- Shah, Kinjal;
- Moharram, Sausan A.;
- Vallon-Christersson, Johan;
- Kazi, Julhash U.
Publication type:
Article
Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine.
Published in:
2019
By:
- Yehia, Lamis;
- Eng, Charis
Publication type:
Editorial
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6
By:
- Owaidah, Tarek;
- Saleh, Mahasen;
- Baz, Batoul;
- Abdulaziz, Basma;
- Alzahrani, Hazza;
- Tarawah, Ahmed;
- Almusa, Abdulrahman;
- AlNounou, Randa;
- AbaAlkhail, Hala;
- Al-Numair, Nouf;
- Altahan, Rahaf;
- Abouelhoda, Mohammed;
- Alamoudi, Thamer;
- Monies, Dorota;
- Jabaan, Amjad;
- Tassan, Nada Al
Publication type:
Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
By:
- Safarova, Maya S.;
- Satterfield, Benjamin A.;
- Fan, Xiao;
- Austin, Erin E.;
- Ye, Zhan;
- Bastarache, Lisa;
- Zheng, Neil;
- Ritchie, Marylyn D.;
- Borthwick, Kenneth M.;
- Williams, Marc S.;
- Larson, Eric B.;
- Scrol, Aaron;
- Jarvik, Gail P.;
- Crosslin, David R.;
- Leppig, Kathleen;
- Rasmussen-Torvik, Laura J.;
- Pendergrass, Sarah A.;
- Sturm, Amy C.;
- Namjou, Bahram;
- Shah, Amy Sanghavi
Publication type:
Article
Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0077-8
By:
- Fan, Shicai;
- Tang, Jianxiong;
- Li, Nan;
- Zhao, Ying;
- Ai, Rizi;
- Zhang, Kai;
- Wang, Mengchi;
- Du, Wei;
- Wang, Wei
Publication type:
Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
By:
- Leblond, Claire S;
- Cliquet, Freddy;
- Carton, Coralie;
- Huguet, Guillaume;
- Mathieu, Alexandre;
- Kergrohen, Thomas;
- Buratti, Julien;
- Lemière, Nathalie;
- Cuisset, Laurence;
- Bienvenu, Thierry;
- Boland, Anne;
- Deleuze, Jean-François;
- Stora, Tormodur;
- Biskupstoe, Rannva;
- Halling, Jónrit;
- Andorsdóttir, Guðrið;
- Billstedt, Eva;
- Gillberg, Christopher;
- Bourgeron, Thomas
Publication type:
Article
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0076-1
By:
- Scocchia, Alicia;
- Wigby, Kristen M.;
- Masser-Frye, Diane;
- Del Campo, Miguel;
- Galarreta, Carolina I.;
- Thorpe, Erin;
- McEachern, Julia;
- Robinson, Keisha;
- Gross, Andrew;
- Ajay, Subramanian S.;
- Rajan, Vani;
- Perry, Denise L.;
- Belmont, John W.;
- Bentley, David R.;
- Jones, Marilyn C.;
- Taft, Ryan J.
Publication type:
Article

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