A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker, Heather C Mefford, Jeffrey M Kidd, Sharon R Browning, Brian L Browning, Diane E Dickel, Deborah L Levy, Blake C Ballif, Kathryn Platky, Darren M Farber, Gordon C Gowans, Jessica J Wetherbee, Alexander Asamoah, David D Weaver, Paul R Mark, Jennifer Dickerson, Bhuwan P Garg, Sara A Ellingwood, Rosemarie Smith, Valerie C Banks, Wendy Smith, Marie T McDonald, Joe J Hoo, Beatrice N French, Cindy Hudson, John P Johnson, Jillian R Ozmore, John B Moeschler, Urvashi Surti, Luis F Escobar, Dima El-Khechen, Jerome L Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M McDonald-McGinn, Elaine H Zackai, Matthew A Deardorff, Tamim H Shaikh, Eric Haan, Kathryn L Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E DeLisi, Jonathan Sebat, Mary-Claire King, Lisa G Shaffer, Evan E Eichler. Nat Genet 2010
Times Cited: 411



Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
Times Cited: 184




List of shared articles



Times cited

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.
Lilia Romdhane, Nessrine Mezzi, Hamza Dallali, Olfa Messaoud, Jingxuan Shan, Khalid A Fakhro, Rym Kefi, Lotfi Chouchane, Sonia Abdelhak. NPJ Genom Med 2021
0

Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Stacey D Edwards, Katharina V Schulze, Jill A Rosenfeld, Lauren E Westerfield, Amanda Gerard, Bo Yuan, Elena L Grigorenko, Jennifer E Posey, Weimin Bi, Pengfei Liu. Am J Med Genet A 2021
0

Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.
Xiaoqing Wu, Gang An, Xiaorui Xie, Linjuan Su, Meiying Cai, Xuemei Chen, Ying Li, Na Lin, Deqin He, Meiying Wang,[...]. J Clin Lab Anal 2020
6

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano. Genes (Basel) 2020
0

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Caitlin M Hudac, Joanna Bove, Shelley Barber, Michael Duyzend, Ari Wallace, Christa Lese Martin, David H Ledbetter, Ellen Hanson, Robin P Goin-Kochel, LeeAnne Green-Snyder,[...]. Autism Res 2020
6

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China.
Bin Liang, Yan Wang, Na Lin, Hailong Huang, Lingji Chen, Meihuan Chen, Donghong Yu, Xuemei Chen, Deqin He, Liangpu Xu. Clin Chim Acta 2020
2

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.
Giovanna Cantini Tolezano, Silvia Souza da Costa, Marília de Oliveira Scliar, Walter Luis Magalhães Fernandes, Paulo Alberto Otto, Débora Romeo Bertola, Carla Rosenberg, Angela Maria Vianna-Morgante, Ana Cristina Victorino Krepischi. Int J Mol Cell Med 2020
0

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Maryam Al Shehhi, Eva B Forman, Jacqueline E Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R Betts, Linda Mc Ardle, Kathleen M Gorman, Mary D King,[...]. Eur J Med Genet 2019
24


Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo,[...]. Am J Med Genet C Semin Med Genet 2019
12

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova,[...]. BMC Med Genomics 2019
2

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
27

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.
Lisa A Lansdon, Benjamin W Darbro, Aline L Petrin, Alissa M Hulstrand, Jennifer M Standley, Rachel B Brouillette, Abby Long, M Adela Mansilla, Robert A Cornell, Jeffrey C Murray,[...]. Genetics 2018
8

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Kate Wolfe, Andrew McQuillin, Viola Alesi, Elise Boudry Labis, Peter Cutajar, Bruno Dallapiccola, Maria Lisa Dentici, Anne Dieux-Coeslier, Benedicte Duban-Bedu, Tina Duelund Hjortshøj,[...]. Am J Med Genet B Neuropsychiatr Genet 2018
6


A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Anna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, Tatiana V Nikitina, Stanislav A Vasilyev, Ekaterina N Tolmacheva, Mariya E Lopatkina, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina A Vorotelyak,[...]. Am J Med Genet A 2018
5

A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3.
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes. Cytogenet Genome Res 2018
1

Clinical utility gene card for: 16p12.2 microdeletion.
Lucilla Pizzo, Joris Andrieux, David J Amor, Santhosh Girirajan. Eur J Hum Genet 2017
3

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
Lutgarde Govaerts, Malgorzata Srebniak, Karin Diderich, Marieke Joosten, Sam Riedijk, Maarten Knapen, Attie Go, Dimitri Papatsonis, Katja de Graaf, Toon Toolenaar,[...]. Prenat Diagn 2017
7

Microarrays in prenatal diagnosis.
Beatrice Oneda, Anita Rauch. Best Pract Res Clin Obstet Gynaecol 2017
20

Copy number variation analysis of patients with intellectual disability from North-West Spain.
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros. Gene 2017
11

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra,[...]. Genome Med 2017
9