Works matching DE "MEDICAL genomics"

Results: 502

Enhancer biology and enhanceropathies.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 3, p. 210, doi. 10.1038/nsmb.2784

By:

Smith, Edwin;
Shilatifard, Ali

Publication type:

Article

Copy number variations in spontaneous abortions: a meta-analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 4, p. 1039, doi. 10.1007/s10815-025-03420-w

By:

Drozdov, Gleb V.;
Kashevarova, Anna A.;
Lebedev, Igor N.

Publication type:

Article

Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 11, p. 2581, doi. 10.1007/s10815-022-02653-3

By:

Capalbo, Antonio;
Gabbiato, Ilaria;
Caroselli, Silvia;
Picchetta, Ludovica;
Cavalli, Pietro;
Lonardo, Fortunato;
Bianca, Sebastiano;
Giardina, Emiliano;
Zuccarello, Daniela

Publication type:

Article

High de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10431-4

By:

Ghalavand, Mohammad Amin;
Asghari, Alimohamad;
Jahanbakhshi, Amin;
Falavarjani, Khalil Ghasemi;
Eftekharian, Ali;
Farhadi, Mohammad;
Emamdjomeh, Hessamaldin;
Garshasbi, Masoud;
Falah, Masoumeh

Publication type:

Article

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Published in:

International Journal of Legal Medicine, 2023, v. 137, n. 2, p. 345, doi. 10.1007/s00414-023-02951-0

By:

Martinez-Barrios, Estefanía;
Sarquella-Brugada, Georgia;
Perez-Serra, Alexandra;
Fernandez-Falgueras, Anna;
Cesar, Sergi;
Alcalde, Mireia;
Coll, Mónica;
Puigmulé, Marta;
Iglesias, Anna;
Ferrer-Costa, Carles;
del Olmo, Bernat;
Picó, Ferran;
Lopez, Laura;
Fiol, Victoria;
Cruzalegui, José;
Hernandez, Clara;
Arbelo, Elena;
Díez-Escuté, Nuria;
Cerralbo, Patricia;
Grassi, Simone

Publication type:

Article

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.

Published in:

2019

By:

Koohiyan, Mahbobeh;
Noori-Daloii, Mohammad Reza;
Hashemzadeh-Chaleshtori, Morteza;
Salehi, Mansoor;
Abtahi, Hamidreza;
Tabatabaiefar, Mohammad Amin;
Noori-Daloii, Mohammad Reza;
Tabatabaiefar, Mohammad Amin

Publication type:

journal article

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.

Published in:

2019

By:

Zarepour, Narges;
Koohiyan, Mahbobeh;
Taghipour-Sheshdeh, Afsaneh;
Nemati-Zargaran, Fatemeh;
Saki, Nader;
Mohammadi-Asl, Javad;
Tabatabaiefar, Mohammad Amin;
Hashemzadeh-Chaleshtori, Morteza;
Tabatabaiefar, Mohammad Amin

Publication type:

journal article

Complex heatmaps reveal patterns and correlations in multidimensional genomic data.

Published in:

Bioinformatics, 2016, v. 32, n. 18, p. 2847, doi. 10.1093/bioinformatics/btw313

By:

Schlesner, Matthias;
Zuguang Gu;
Eils, Roland

Publication type:

Article

seqlm: an MDL based method for identifying differentially methylated regions in high density methylation array data.

Published in:

Bioinformatics, 2016, v. 32, n. 17, p. 2604, doi. 10.1093/bioinformatics/btw304

By:

Kolde, Raivo;
M€artens, Kaspar;
Lokk, Kaie;
Laur, Sven;
Vilo, Jaak

Publication type:

Article

EPGA2: memory-efficient de novo assembler.

Published in:

Bioinformatics, 2015, v. 31, n. 24, p. 3988, doi. 10.1093/bioinformatics/btv487

By:

Junwei Luo;
JianxinWang;
Weilong Li;
Zhen Zhang;
Fang-Xiang Wu;
Min Li;
Yi Pan

Publication type:

Article

Privacy preserving protocol for detecting genetic relatives using rare variants.

Published in:

Bioinformatics, 2014, v. 30, n. 12, p. i204, doi. 10.1093/bioinformatics/btu294

By:

Hormozdiari, Farhad;
Joo, Jong Wha J;
Wadia, Akshay;
Guan, Feng;
Ostrosky, Rafail;
Sahai, Amit;
Eskin, Eleazar

Publication type:

Article

Robust clinical outcome prediction based on Bayesian analysis of transcriptional profiles and prior causal networks.

Published in:

Bioinformatics, 2014, v. 30, n. 12, p. i69, doi. 10.1093/bioinformatics/btu272

By:

Zarringhalam, Kourosh;
Enayetallah, Ahmed;
Reddy, Padmalatha;
Ziemek, Daniel

Publication type:

Article

TP53 and ATM mRNA expression in skin and skeletal muscle after low-level laser exposure.

Published in:

Journal of Cosmetic & Laser Therapy, 2017, v. 19, n. 4, p. 227, doi. 10.1080/14764172.2017.1293829

By:

Guedes de Almeida, Luciana;
Sergio, Luiz Philippe da Silva;
de Paoli, Flavia;
Mencalha, Andre Luiz;
da Fonseca, Adenilson de Souza

Publication type:

Article

Pathogen genetics: Sequencing of clinical bacterial isolates.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 9, p. 499, doi. 10.1038/nrg4002

By:

Waldron, Denise

Publication type:

Article

Start me up: ways to encourage sharing of genomic information with research participants.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 8, p. 435, doi. 10.1038/nrg3981

By:

Angrist, Misha

Publication type:

Article

Natural selection and infectious disease in human populations.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 6, p. 379, doi. 10.1038/nrg3734

By:

Karlsson, Elinor K.;
Kwiatkowski, Dominic P.;
Sabeti, Pardis C.

Publication type:

Article

Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvaf007

By:

Witchel, Selma F;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A

Publication type:

Article

Germline Variants in Sporadic Pituitary Adenomas.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae085

By:

Alzahrani, Ali S;
Nafisah, Abdulghani Bin;
Alswailem, Meshael;
Alghamdi, Balgees;
Alsaihati, Burair;
Aljafar, Hussain;
Baz, Batoul;
Alhindi, Hindi;
Moria, Yosra;
Butt, Muhammad Imran;
Alkabbani, Abdulrahman Ghiatheddin;
Alshaikh, Omalkhaire M;
Alnassar, Anhar;
Afeef, Ahmed Bin;
AlQuraa, Reem;
Alsuhaibani, Rawan;
Alhadlaq, Omar;
Abothenain, Fayha;
Altwaijry, Yasser A

Publication type:

Article

The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.

Published in:

Andrology, 2024, v. 12, n. 1, p. 98, doi. 10.1111/andr.13446

By:

Zhang, Wei;
Mao, Jiangfeng;
Wang, Xi;
Zhao, Zhiyuan;
Zhang, Xiaoxia;
Sun, Bang;
Cao, Yaqing;
Nie, Min;
Wu, Xueyan

Publication type:

Article

Communicating Genetics and Smoking Through Social Media: Are We There Yet?

Published in:

Journal of Medical Internet Research, 2013, v. 15, n. 9, p. 1, doi. 10.2196/jmir.2653

By:

Viron, Sylviane De;
Suggs, L Suzanne;
Brand, Angela;
Oyen, Herman Van;
Eysenbach, G

Publication type:

Article

Basan syndrome in a family from South India: a novel SMARCAD1 variant.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 4, p. 437, doi. 10.1093/ced/llad393

By:

Mathews, Irene;
Wagh, Shivangi;
Baby, Aimin;
Chandrashekar, Laxmisha;
Dalal, Ashwin

Publication type:

Article

A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1105760

By:

Rui Wu;
Weikang Dou;
Huimin Zhou;
Ming Shi

Publication type:

Article

Genetically Transitional Disease and the Road to Personalized Medicine.

Published in:

Genes, 2025, v. 16, n. 4, p. 401, doi. 10.3390/genes16040401

By:

Yao, Qingping;
Gorevic, Peter D.;
Gibson, Greg

Publication type:

Article

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Published in:

Genes, 2024, v. 15, n. 12, p. 1612, doi. 10.3390/genes15121612

By:

Vanderscheldon, Rachel K.;
Sukov, William R.;
Gardner, Juli-Anne;
Rehder, Catherine W.;
Levy, Brynn;
Velagaleti, Gopalrao V.;
Toydemir, Reha M.;
Tang, Guilin;
Boles, Brittany;
Cao, Yang;
Mixon, Christopher;
Zou, Ying S.;
Astbury, Caroline;
Tsuchiya, Karen D.;
Peterson, Jess F.

Publication type:

Article

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.

Published in:

Genes, 2024, v. 15, n. 8, p. 973, doi. 10.3390/genes15080973

By:

Horovitz, Dafne Dain Gandelman;
Félix, Têmis Maria;
Ferraz, Victor Evangelista de Faria

Publication type:

Article

Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.

Published in:

Genes, 2023, v. 14, n. 12, p. 2218, doi. 10.3390/genes14122218

By:

Tibelius, Alexandra;
Evers, Christina;
Oeser, Sabrina;
Rinke, Isabelle;
Jauch, Anna;
Hinderhofer, Katrin

Publication type:

Article

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Published in:

Genes, 2023, v. 14, n. 10, p. 1958, doi. 10.3390/genes14101958

By:

Benvenuto, Mario;
Palumbo, Pietro;
Di Muro, Ester;
Perrotta, Concetta Simona;
Mazza, Tommaso;
Mandarà, Giuseppa Maria Luana;
Palumbo, Orazio;
Carella, Massimo

Publication type:

Article

Clinical and Genetic Features of NR2E3 -Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.

Published in:

Genes, 2023, v. 14, n. 8, p. 1525, doi. 10.3390/genes14081525

By:

Xiao, Sainan;
Yi, Zhen;
Xiao, Xueshan;
Li, Shiqiang;
Jia, Xiaoyun;
Lian, Ping;
Sun, Wenmin;
Wang, Panfeng;
Lu, Lin;
Zhang, Qingjiong

Publication type:

Article

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

Published in:

Genes, 2023, v. 14, n. 3, p. 608, doi. 10.3390/genes14030608

By:

Rossen, Jennifer L.;
Bohnsack, Brenda L.;
Zhang, Kevin X.;
Ing, Alexander;
Drackley, Andy;
Castelluccio, Valerie;
Ralay-Ranaivo, Hanta

Publication type:

Article

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Published in:

Genes, 2023, v. 14, n. 2, p. 443, doi. 10.3390/genes14020443

By:

Suzuki, Yasuo;
Katayama, Kan;
Saiki, Ryosuke;
Hirabayashi, Yosuke;
Murata, Tomohiro;
Ishikawa, Eiji;
Ito, Masaaki;
Dohi, Kaoru

Publication type:

Article

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Published in:

Genes, 2022, v. 13, n. 8, p. 1369, doi. 10.3390/genes13081369

By:

Okashah, Sarah;
Vasudeva, Dhanya;
El Jerbi, Aya;
Khodjet-El-khil, Houssein;
Al-Shafai, Mashael;
Syed, Najeeb;
Kambouris, Marios;
Udassi, Sharda;
Saraiva, Luis R.;
Al-Saloos, Hesham;
Udassi, Jai;
Al-Shafai, Kholoud N.

Publication type:

Article

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

Published in:

Genes, 2022, v. 13, n. 7, p. 1252, doi. 10.3390/genes13071252

By:

Toro, Mariana Dalbo Contrera;
Ribeiro, José Dirceu;
Marson, Fernando Augusto Lima;
Ortiz, Érica;
Toro, Adyléia Aparecida Dalbo Contrera;
Bertuzzo, Carmen Silvia;
Jones, Marcus Herbert;
Sakano, Eulália

Publication type:

Article

CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.

Published in:

Genes, 2022, v. 13, n. 3, p. 400, doi. 10.3390/genes13030400

By:

Ben Aissa-Haj, Jihenne;
Kabbage, Maria;
Othmen, Houcemeddine;
Saulnier, Patrick;
Kettiti, Haifa Tounsi;
Jaballah-Gabteni, Amira;
Ferah, Azer;
Medhioub, Mouna;
Khsiba, Amal;
Mahmoudi, Moufida;
Maaloul, Afifa;
Ben Nasr, Sonia;
Chelbi, Emna;
Abdelhak, Sonia;
Boubaker, M. Samir;
Azzouz, Mohamed Mousaddak;
Rouleau, Etienne

Publication type:

Article

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Published in:

Genes, 2021, v. 12, n. 12, p. 1987, doi. 10.3390/genes12121987

By:

Ersoy, Melike;
Uyanik, Bulent;
Gedikbasi, Asuman

Publication type:

Article

Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.

Published in:

Genes, 2021, v. 12, n. 12, p. 1940, doi. 10.3390/genes12121940

By:

Saleem, Irum Badshah;
Masoud, Muhammad Shareef;
Qasim, Muhammad;
Ali, Muhammad;
Ahmed, Zubair M.

Publication type:

Article

BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.

Published in:

Genes, 2021, v. 12, n. 12, p. 1917, doi. 10.3390/genes12121917

By:

Pepe, Francesco;
Pisapia, Pasquale;
Russo, Gianluca;
Nacchio, Mariantonia;
Pallante, Pierlorenzo;
Vigliar, Elena;
De Angelis, Carmine;
Insabato, Luigi;
Bellevicine, Claudio;
De Placido, Sabino;
Troncone, Giancarlo;
Malapelle, Umberto

Publication type:

Article

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

Published in:

Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275

By:

van der Sluijs, Pleuntje J.;
Alders, Mariëlle;
Dingemans, Alexander J. M.;
Parbhoo, Kareesma;
van Bon, Bregje W.;
Dempsey, Jennifer C.;
Doherty, Dan;
den Dunnen, Johan T.;
Gerkes, Erica H.;
Milller, Ilana M.;
Moortgat, Stephanie;
Regier, Debra S.;
Ruivenkamp, Claudia A. L.;
Schmalz, Betsy;
Smol, Thomas;
Stuurman, Kyra E.;
Vincent-Delorme, Catherine;
de Vries, Bert B. A.;
Sadikovic, Bekim;
Hickey, Scott E.

Publication type:

Article

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.

Published in:

Genes, 2021, v. 12, n. 4, p. 537, doi. 10.3390/genes12040537

By:

Zhang, Lujia;
Li, Ya;
Qin, Litao;
Wu, Yu;
Lei, Bo

Publication type:

Article

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Published in:

Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020

By:

Tresbach, Rafael Hencke;
Sperb-Ludwig, Fernanda;
Ligabue-Braun, Rodrigo;
Tonon, Tássia;
de Oliveira Cardoso, Maria Teresinha;
Heredia, Romina Soledad;
da Silva Rosa, Maria Teresa Alves;
Martins, Bárbara Cátia;
Poubel, Monique Oliveira;
da Silva, Luiz Carlos Santana;
Maillot, François;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

Published in:

Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467

By:

García-García, Gema;
Berzal-Serrano, Alba;
García-Díaz, Piedad;
Villanova-Aparisi, Rebeca;
Juárez-Rodríguez, Sara;
de Paula-Vernetta, Carlos;
Cavallé-Garrido, Laura;
Jaijo, Teresa;
Armengot-Carceller, Miguel;
Millán, José M;
Aller, Elena

Publication type:

Article

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Published in:

Genes, 2020, v. 11, n. 10, p. 1123, doi. 10.3390/genes11101123

By:

Lattante, Serena;
Marangi, Giuseppe;
Doronzio, Paolo Niccolò;
Conte, Amelia;
Bisogni, Giulia;
Zollino, Marcella;
Sabatelli, Mario

Publication type:

Article

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

Published in:

Genes, 2020, v. 11, n. 9, p. 978, doi. 10.3390/genes11090978

By:

Zafar, Saba;
Shahzad, Mohsin;
Ishaq, Rafaqat;
Yousaf, Ayesha;
Shaikh, Rehan S.;
Akram, Javed;
Ahmed, Zubair M.;
Riazuddin, Saima

Publication type:

Article

Bladder cancer epidemiology and genetic susceptibility.

Published in:

Journal of Biomedical Research, 2013, v. 27, n. 3, p. 170, doi. 10.7555/JBR.27.20130026

By:

Haiyan Chu;
Meilin Wang;
Zhengdong Zhang

Publication type:

Article

Asians-a Doping-Friendly Race? Antidoping Research and Popular Discourse on Race in the Postgenomic Era.

Published in:

East Asian Science, Technology & Society, 2016, v. 10, n. 1, p. 5, doi. 10.1215/18752160-3132921

By:

Jaehwan Hyun

Publication type:

Article

PRMT7 contributes to the metastasis phenotype in human non-small-cell lung cancer cells possibly through the interaction with HSPA5 and EEF2.

Published in:

OncoTargets & Therapy, 2018, v. 11, p. 4869, doi. 10.2147/OTT.S166412

By:

Cheng, Dezhi;
He, Zhifeng;
Zheng, Liangcheng;
Xie, Deyao;
Dong, Shangwen;
Zhang, Peng

Publication type:

Article

Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00480-y

By:

Ammar, Tamer H. A.;
Al-Ettribi, Ghada M. M.;
Abo Hashish, Maha M. A.;
Farid, Tarek M.;
Abou-Elalla, Amany A.;
Thomas, Manal M.

Publication type:

Article

In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00351-4

By:

Khamooshian, Sahand;
Kazeminia, Mohsen;
Moradi, Keivan

Publication type:

Article

Medical genomics at Belyaev Conference – 2017.

Published in:

BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0324-3

By:

Orlov, Yuriy L.;
Fernandez-Masso, Julio R.;
Chen, Ming;
Baranova, Ancha V.

Publication type:

Article

Experiences and attitudes of residents regarding a community-based genome cohort study in Japan: a population-based, cross-sectional study.

Published in:

BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0175-8

By:

Miyamoto, Keiko;
Iwakuma, Miho;
Nakayama, Takeo

Publication type:

Article

Preparing the next generation of genomicists: a laboratory-style course in medical genomics.

Published in:

BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s12920-015-0124-y

By:

Linderman, Michael D.;
Bashir, Ali;
Diaz, George A.;
Kasarskis, Andrew;
Sanderson, Saskia C.;
Zinberg, Randi E.;
Mahajan, Milind;
Shah, Hardik;
Suckiel, Sabrina;
Zweig, Micol;
Schadt, Eric E.

Publication type:

Article