A citation-based method for searching scientific literature

Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
Times Cited: 159



David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein, W Andrew Faucett, Lars Feuk, Jan M Friedman, Ada Hamosh, Laird Jackson, Erin B Kaminsky, Klaas Kok, Ian D Krantz, Robert M Kuhn, Charles Lee, James M Ostell, Carla Rosenberg, Stephen W Scherer, Nancy B Spinner, Dimitri J Stavropoulos, James H Tepperberg, Erik C Thorland, Joris R Vermeesch, Darrel J Waggoner, Michael S Watson, Christa Lese Martin, David H Ledbetter. Am J Hum Genet 2010
Times Cited: 1469




List of shared articles



Times cited

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E Schwartz,[...]. Genet Med 2021
0

Comorbidities associated with genetic abnormalities in children with intellectual disability.
Jia-Shing Chen, Wen-Hao Yu, Meng-Che Tsai, Pi-Lien Hung, Yi-Fang Tu. Sci Rep 2021
0

Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage.
Jong-Mi Lee, So Young Shin, Guk Won Kim, Woo Jeng Kim, Jeong Ha Wie, Subeen Hong, Dain Kang, Hayoung Choi, Jisook Yim, Yonggoo Kim,[...]. Mol Diagn Ther 2021
0


Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
Julie De Backer, Antoine Bondue, Werner Budts, Arturo Evangelista, Pastora Gallego, Guillaume Jondeau, Bart Loeys, Maria L Peña, Gisela Teixido-Tura, Ingrid van de Laar,[...]. Eur J Prev Cardiol 2020
7


Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Jelena Ruml Stojanovic, Aleksandra Miletic, Borut Peterlin, Ales Maver, Marija Mijovic, Nikola Borlja, Brankica Dimitrijevic, Ivan Soldatovic, Goran Cuturilo. J Child Neurol 2020
5

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen,[...]. J Med Genet 2020
12

Genomic Stability Testing of Pluripotent Stem Cells.
Erik McIntire, Seth Taapken, Kimberly Leonhard, Anna Lisa Larson. Curr Protoc Stem Cell Biol 2020
2

Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
Stela Z Berisha, Shashi Shetty, Thomas W Prior, Anna L Mitchell. Birth Defects Res 2020
1

Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.
Cherisse A Marcou, Beth Pitel, Clinton E Hagen, Nicole J Boczek, Ross A Rowsey, Linda B Baughn, Nicole L Hoppman, Erik C Thorland, Hutton M Kearney. Genet Med 2020
0

Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Megan Boothe, Robert Morris, Nathaniel Robin. J Pers Med 2020
0

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.
Vaidehi Jobanputra, Peter Andrews, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Dino Robinson, Ferrah London, Inessa Hakker, Kazimierz Wrzeszczynski, Michael Ronemus. J Mol Diagn 2020
0

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Rongyue Wang, Tingying Lei, Fang Fu, Ru Li, Xiangyi Jing, Xin Yang, Juan Liu, Dongzhi Li, Can Liao. Pediatr Neonatol 2019
9

European guidelines for constitutional cytogenomic analysis.
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
31

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
44

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Pavlina Capkova, Josef Srovnal, Zuzana Capkova, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch,[...]. PeerJ 2019
2

Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
Wahab A Khan, Ninette Cohen, Stuart A Scott, Elaine M Pereira. BMC Med Genomics 2019
5

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.
Gorazd Rudolf, Luca Lovrečić, Nataša Tul, Nataša Teran, Borut Peterlin. Mol Genet Genomic Med 2019
3

Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.
Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong Li. Mol Med Rep 2019
4

Pitfalls in molecular diagnostics.
Lulu Sun, John D Pfeifer. Semin Diagn Pathol 2019
3

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Mariana R Botton, Xingwu Lu, Geping Zhao, Elena Repnikova, Yoshinori Seki, Andrea Gaedigk, Eric E Schadt, Lisa Edelmann, Stuart A Scott. Hum Mutat 2019
4

Clinical utility of genomic sequencing.
Matthew B Neu, Kevin M Bowling, Gregory M Cooper. Curr Opin Pediatr 2019
5

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon,[...]. Front Genet 2019
4

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
E Robert Wassman, Karen S Ho, Diana Bertrand, Kyle W Davis, Megan M Martin, Stephanie Page, Andreas Peiffer, Aparna Prasad, Moises A Serrano, Hope Twede,[...]. Neurol Genet 2019
1

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
A Vetro, D Goidin, I Lesende, I Limongelli, G N Ranzani, F Novara, M C Bonaglia, B Rinaldi, F Franchi, E Manolakos,[...]. Clin Genet 2018
9


Towards precision nephrology: the opportunities and challenges of genomic medicine.
Jordan G Nestor, Emily E Groopman, Ali G Gharavi. J Nephrol 2018
6

Genetic basis of human congenital anomalies of the kidney and urinary tract.
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G Gharavi. J Clin Invest 2018
32

Genomic medicine for kidney disease.
Emily E Groopman, Hila Milo Rasouly, Ali G Gharavi. Nat Rev Nephrol 2018
45

The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis.
Melissa Stosic, Brynn Levy, Ronald Wapner. Obstet Gynecol Clin North Am 2018
18


Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction.
Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu, Fang Yang. Mol Cytogenet 2018
3

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
145