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



Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. N Engl J Med 2012
Times Cited: 350




List of shared articles



Times cited


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

Genetic Testing in Neurodevelopmental Disorders.
Juliann M Savatt, Scott M Myers. Front Pediatr 2021
3

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai,[...]. PLoS Genet 2021
0

Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions.
Jennifer Gladys Mulle, Patrick F Sullivan, Jens Hjerling-Leffler. Curr Opin Genet Dev 2021
0


Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P Coe, Hui Guo, Kendra Hoekzema, Trygve E Bakken,[...]. Nat Genet 2021
0





Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.
Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M Heine, Samuel J R A Chawner, Antonio Rodriguez-Moreno,[...]. Mol Autism 2020
4

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
5

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Anna Lengyel, Éva Pinti, Henriett Pikó, Eszter Jávorszky, Dezső David, Mariann Tihanyi, Éva Gönczi, Eszter Kiss, Zsuzsa Tóth, Kálmán Tory,[...]. Eur J Med Genet 2020
0

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

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck,[...]. Genet Med 2019
51

Effect of inbreeding on intellectual disability revisited by trio sequencing.
Kimia Kahrizi, Hao Hu, Masoumeh Hosseini, Vera M Kalscheuer, Zohreh Fattahi, Maryam Beheshtian, Vanessa Suckow, Marzieh Mohseni, Bettina Lipkowitz, Sepideh Mehvari,[...]. Clin Genet 2019
23

Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin. Pediatr Neonatol 2019
1

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Karen J Woodward, Julie Stampalia, Hannah Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad-Rokny,[...]. Mol Genet Genomic Med 2019
8


Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà,[...]. Int J Mol Sci 2019
13

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
Elisa Tassano, Patrizia Ronchetto, Annalisa Calcagno, Patrizia Fiorio, Giorgio Gimelli, Valeria Capra, Marcello Scala. J Genet 2019
1

Genetic Causes and Modifiers of Autism Spectrum Disorder.
Lauren Rylaarsdam, Alicia Guemez-Gamboa. Front Cell Neurosci 2019
40

Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.
Julio Rodríguez-López, Beatriz Sobrino, Jorge Amigo, Noa Carrera, Julio Brenlla, Santiago Agra, Eduardo Paz, Ángel Carracedo, Mario Páramo, Manuel Arrojo,[...]. Eur Arch Psychiatry Clin Neurosci 2018
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

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
Matthew Jensen, R Frank Kooy, Tony J Simon, Edwin Reyniers, Santhosh Girirajan, Flora Tassone. Eur J Med Genet 2018
9



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

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
M N Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, I van der Werf, S M Waszak, M Zazhytska, I Roberts-Caldeira, N Gheldof,[...]. Mol Psychiatry 2017
36

High-resolution copy number variation analysis of schizophrenia in Japan.
I Kushima, B Aleksic, M Nakatochi, T Shimamura, T Shiino, A Yoshimi, H Kimura, Y Takasaki, C Wang, J Xing,[...]. Mol Psychiatry 2017
54

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
6

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

Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics.
Kristel T E Kleijer, Guillaume Huguet, Julie Tastet, Thomas Bourgeron, J P H Burbach. Adv Anat Embryol Cell Biol 2017
7

Intragenic CNTNAP2 Deletions: A Bridge Too Far?
Martin Poot. Mol Syndromol 2017
17

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


Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Elana Pinchefsky, Laurence Laneuville, Myriam Srour. Child Neurol Open 2017
7

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Amy B Wilfert, Arvis Sulovari, Tychele N Turner, Bradley P Coe, Evan E Eichler. Genome Med 2017
52