A citation-based method for searching scientific literature

Cristina Gug, Delia Huțanu, Monica Vaida, Gabriela Doroş, Cristina Popa, Ramona Stroescu, Gheorghe Furău, Cristian Furău, Laura Grigoriță, Ioana Mozos. Exp Ther Med 2018
Times Cited: 5







List of co-cited articles
6 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases.
Cristina Gug, Adrian Rațiu, Dan Navolan, Ioan Drăgan, Iulia-Maria Groza, Marius Păpurică, Monica-Adriana Vaida, Ioana Mozoș, Maria C Jurcă. Cytogenet Genome Res 2019
10
80

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.
Cristina Gug, Eusebiu Vlad Gorduza, Adrian Lăcătuşu, Monica Adriana Vaida, Florin Bîrsăşteanu, Maria Puiu, Dorina Stoicănescu. Exp Ther Med 2020
4
75

Polyploidy in First and Second Trimester Pregnancies in Romania - a Retrospective Study.
Cristina Gug, Florin Burada, Mihai Ioana, Anca-Lelia Riza, Mihaela Moldovan, Ioana Mozos, Adrian Ratiu, Violeta Martiniuc, Eusebiu Vlad Gorduza. Clin Lab 2020
4
75

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
40



Genetic causes and mechanisms of Osteogenesis Imperfecta.
Joohyun Lim, Ingo Grafe, Stefanie Alexander, Brendan Lee. Bone 2017
43
20


The classic: congenital osteomalacia. Olaus Jacob Ekman.
L F Peltier. Clin Orthop Relat Res 1981
4
25


Osteogenesis imperfecta: prospects for molecular therapeutics.
A Forlino, J C Marini. Mol Genet Metab 2000
48
20

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2019
24
20

Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.
M Miskulin, R Dalgleish, B Kluve-Beckerman, S I Rennard, P Tolstoshev, M Brantly, R G Crystal. Biochemistry 1986
112
20

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Joan C Marini, Antonella Forlino, Wayne A Cabral, Aileen M Barnes, James D San Antonio, Sarah Milgrom, James C Hyland, Jarmo Körkkö, Darwin J Prockop, Anne De Paepe,[...]. Hum Mutat 2007
429
20

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.
Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan. Mol Genet Genomic Med 2019
5
20

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Luisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, Jochen Hecht, Tilmann Kallinich, Werner Stenzel, Birgit Spors, Arpad von Moers, Stefan Mundlos, Uwe Kornak,[...]. Am J Med Genet A 2016
13
20

Osteogenesis imperfecta.
Antonella Forlino, Joan C Marini. Lancet 2016
394
20

What is new in genetics and osteogenesis imperfecta classification?
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel. J Pediatr (Rio J) 2014
53
20

Osteogenesis imperfecta.
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow,[...]. Nat Rev Dis Primers 2017
242
20

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
637
20

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers. Genet Med 2018
24
20

Osteogenesis imperfecta - A clinical update.
Symeon Tournis, Anastasia D Dede. Metabolism 2018
42
20

Therapy with pamidronate in children with osteogenesis imperfecta.
Otilia Marginean, Raluca Corina Tamasanu, Niculina Mang, Ioana Mozos, Giorgiana Flavia Brad. Drug Des Devel Ther 2017
9
20

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Michael Krawczak, Nick S T Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, David N Cooper. Hum Mutat 2007
253
20

CHARGE syndrome.
Kim D Blake, Chitra Prasad. Orphanet J Rare Dis 2006
146
20

CHARGE syndrome: an update.
Damien Sanlaville, Alain Verloes. Eur J Hum Genet 2007
177
20

Mutation update on the CHD7 gene involved in CHARGE syndrome.
Nicole Janssen, Jorieke E H Bergman, Morris A Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M W Hofstra, Conny M A van Ravenswaaij-Arts, Lies H Hoefsloot. Hum Mutat 2012
147
20

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh-Bergès, I Delpierre, S Audollent, S Wiener-Vacher, A-L Mansbach, J Amiel, C Baumann,[...]. Clin Genet 2007
57
20

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.
Tomohiro Kohmoto, Miki Shono, Takuya Naruto, Miki Watanabe, Ken-Ichi Suga, Ryuji Nakagawa, Shoji Kagami, Kiyoshi Masuda, Issei Imoto. Hum Genome Var 2016
5
20

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Séverine Marcos, Julie Sarfati, Chrystel Leroy, Corinne Fouveaut, Philippe Parent, Chantal Metz, Slawomir Wolczynski, Marion Gérard, Eric Bieth, François Kurtz,[...]. J Clin Endocrinol Metab 2014
48
20


CHARGE syndrome: a review.
Peter Hsu, Alan Ma, Meredith Wilson, George Williams, John Curotta, Craig F Munns, Sam Mehr. J Paediatr Child Health 2014
74
20


Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Mary Ella Pierpont, Martina Brueckner, Wendy K Chung, Vidu Garg, Ronald V Lacro, Amy L McGuire, Seema Mital, James R Priest, William T Pu, Amy Roberts,[...]. Circulation 2018
132
20

Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
E Martínez-Quintana, F Rodríguez-González, P Garay-Sánchez, A Tugores. Mol Syndromol 2014
3
33

CHARGE Syndrome with High Bifurcation of the Abdominal Aorta and a Horseshoe Kidney: A Case Report.
Laura Roider, Amr Abdelaziz, Ayman H Gaballah. J Vasc Interv Radiol 2018
2
50

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
M Albert Basson, Conny van Ravenswaaij-Arts. Trends Genet 2015
45
20


The cardiac phenotype in patients with a CHD7 mutation.
Nicole Corsten-Janssen, Wilhelmina S Kerstjens-Frederikse, Gideon J du Marchie Sarvaas, Maria E Baardman, Marian K Bakker, Jorieke E H Bergman, Hanne D Hove, Ketil R Heimdal, Cecilie F Rustad, Raoul C M Hennekam,[...]. Circ Cardiovasc Genet 2013
32
20

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond, Vaidutis Kučinskas. Genomics Insights 2019
1
100

A simple salting out procedure for extracting DNA from human nucleated cells.
S A Miller, D D Dykes, H F Polesky. Nucleic Acids Res 1988
20

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Gabriel E Zentner, Wanda S Layman, Donna M Martin, Peter C Scacheri. Am J Med Genet A 2010
186
20

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta. Int J Cardiol Heart Vasc 2016
9
20

Adaptive behavior in children with CHARGE syndrome.
Nancy Salem-Hartshorne, Susan Jacob. Am J Med Genet A 2005
20
20

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Jorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, Hermien E K de Walle, Jeroen Schoots, Nanna D Rendtorff, Lisbeth Tranebjaerg, Lies H Hoefsloot, Conny M A van Ravenswaaij-Arts, Robert M W Hofstra. Hum Mutat 2012
45
20

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain,[...]. Am J Med Genet C Semin Med Genet 2017
32
20

Fanconi anemia with cleft palate.
A Jurca, Kozma Kinga, M Bembea, Cristina Gug, Claudia Jurca. Rev Med Chir Soc Med Nat Iasi 2014
3
33

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara,[...]. Hum Genome Var 2018
5
20

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Caitlin L Hale, Adrienne N Niederriter, Glenn E Green, Donna M Martin. Am J Med Genet A 2016
66
20

Proven germline mosaicism in a father of two children with CHARGE syndrome.
S Pauli, L Pieper, J Häberle, P Grzmil, P Burfeind, M Steckel, U Lenz, H W Michelmann. Clin Genet 2009
22
20


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.