A citation-based method for searching scientific literature

Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen Spranger, Andrea Superti-Furga, Matthew Warman, Sheila Unger. Am J Med Genet A 2015
Times Cited: 312







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



Times Cited
  Times     Co-cited
Similarity


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
18

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
233
11

Nosology and classification of genetic skeletal disorders: 2019 revision.
Geert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen Robertson, Luca Sangiorgi, Ravi Savarirayan,[...]. Am J Med Genet A 2019
169
9

Genetic heterogeneity in osteogenesis imperfecta.
D O Sillence, A Senn, D M Danks. J Med Genet 1979
8

The birth prevalence rates for the skeletal dysplasias.
I M Orioli, E E Castilla, J G Barbosa-Neto. J Med Genet 1986
215
8


Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
Deborah Krakow, Ralph S Lachman, David L Rimoin. Genet Med 2009
90
7

Nosology and classification of genetic skeletal disorders: 2010 revision.
Matthew L Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L Rimoin,[...]. Am J Med Genet A 2011
403
7

Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh. Pediatr Radiol 2017
23
26

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
6

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Mouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, Aurélie Fabre, Bruno Dumont, David Genevieve, Isabelle Touitou. Hum Mutat 2016
66
9

The skeletal dysplasias.
Deborah Krakow, David L Rimoin. Genet Med 2010
106
6

Prenatal sonographic diagnosis of skeletal dysplasias.
T Schramm, K P Gloning, S Minderer, C Daumer-Haas, K Hörtnagel, A Nerlich, B Tutschek. Ultrasound Obstet Gynecol 2009
99
5

Osteogenesis imperfecta.
Antonella Forlino, Joan C Marini. Lancet 2016
381
5

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
5


Skeletal dysplasias.
Deborah Krakow. Clin Perinatol 2015
47
10

Osteogenesis imperfecta - A clinical update.
Symeon Tournis, Anastasia D Dede. Metabolism 2018
41
12

Ciliary disorder of the skeleton.
Celine Huber, Valerie Cormier-Daire. Am J Med Genet C Semin Med Genet 2012
149
5

Antenatal detection of skeletal dysplasias.
Barbara V Parilla, Elizabeth A Leeth, Michelle P Kambich, Patricia Chilis, Scott N MacGregor. J Ultrasound Med 2003
104
5

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty. Genet Med 2018
58
8

An atlas of genetic influences on osteoporosis in humans and mice.
John A Morris, John P Kemp, Scott E Youlten, Laetitia Laurent, John G Logan, Ryan C Chai, Nicholas A Vulpescu, Vincenzo Forgetta, Aaron Kleinman, Sindhu T Mohanty,[...]. Nat Genet 2019
204
5

Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases.
Manjiri Dighe, Corinne Fligner, Edith Cheng, Bill Warren, Theodore Dubinsky. Radiographics 2008
47
8



The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
4

Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia.
M Cassart, A Massez, T Cos, L Tecco, D Thomas, N Van Regemorter, F Avni. Ultrasound Obstet Gynecol 2007
66
6

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad,[...]. Hum Mutat 2018
40
10

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
Anastasia Konstantinidou, Charalampos Karadimas, Hans R Waterham, Andrea Superti-Furga, Petros Kaminopetros, Maria Grigoriadou, Haris Kokotas, George Agrogiannis, Aglaia Giannoulia-Karantana, Efstratios Patsouris,[...]. Prenat Diagn 2008
29
13

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
4

The phenotypic spectrum of COL2A1 mutations.
Gen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, Yoko Tanaka, Toru Sonoda, Miho Kitamura, Shuya Shirahama, Taichi Itoh, Eiji Nakashima, Hirofumi Ohashi,[...]. Hum Mutat 2005
112
4

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
426
4

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie. Nat Rev Genet 2013
425
4

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.
B Doray, R Favre, B Viville, B Langer, M Dreyfus, C Stoll. Ann Genet 2000
59
6

What Is New in Prenatal Skeletal Dysplasias?
Teresa Victoria, Xiaowei Zhu, Ralph Lachman, Monica Epelman, Edward R Oliver, N Scott Adzick, David M Biko. AJR Am J Roentgenol 2018
10
40

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.
Ravi Savarirayan, Judith P Rossiter, Julie E Hoover-Fong, Melita Irving, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Tae-Joon Cho, Shawn E Kamps, William G Mackenzie,[...]. Am J Obstet Gynecol 2018
13
30

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
Xinyao Zhou, Natalie Chandler, Linbei Deng, Jia Zhou, Meizhen Yuan, Luming Sun. Prenat Diagn 2018
22
18

Osteogenesis imperfecta.
Frank Rauch, Francis H Glorieux. Lancet 2004
741
4

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
M D Briggs, S M Hoffman, L M King, A S Olsen, H Mohrenweiser, J G Leroy, G R Mortier, D L Rimoin, R S Lachman, E S Gaines. Nat Genet 1995
382
4

Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.
M Shohat, D L Rimoin, H E Gruber, R S Lachman. Pediatr Radiol 1991
48
6

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Sara Baumgartner-Sigl, Edda Haberlandt, Steven Mumm, Sabine Scholl-Bürgi, Consolato Sergi, Lawrence Ryan, Karen L Ericson, Michael P Whyte, Wolfgang Högler. Bone 2007
98
3

Neurosurgical aspects of childhood hypophosphatasia.
H Collmann, E Mornet, S Gattenlöhner, C Beck, H Girschick. Childs Nerv Syst 2009
52
5

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
Deborah Krakow, Yasemin Alanay, Lauren P Rimoin, Victoria Lin, William R Wilcox, Ralph S Lachman, David L Rimoin. Am J Med Genet A 2008
40
7

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.
Michael P Whyte, Cheryl Rockman-Greenberg, Keiichi Ozono, Richard Riese, Scott Moseley, Agustin Melian, David D Thompson, Nicholas Bishop, Christine Hofmann. J Clin Endocrinol Metab 2016
117
3

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Agnès Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet-Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat,[...]. Mol Genet Metab 2015
36
8

Low-dose fetal CT in the prenatal evaluation of skeletal dysplasias and other severe skeletal abnormalities.
Teresa Victoria, Monica Epelman, Beverly G Coleman, Steve Horii, Edward R Oliver, Soroosh Mahboubi, Nahla Khalek, Stefanie Kasperski, J Christopher Edgar, Diego Jaramillo. AJR Am J Roentgenol 2013
38
7


A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
Laura A Lettice, Simon J H Heaney, Lorna A Purdie, Li Li, Philippe de Beer, Ben A Oostra, Debbie Goode, Greg Elgar, Robert E Hill, Esther de Graaff. Hum Mol Genet 2003
721
3

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.
W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F G Dikkers, P Hildering, P J Willems,[...]. J Med Genet 2002
481
3

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
Randall D Little, John P Carulli, Richard G Del Mastro, Josée Dupuis, Mark Osborne, Colleen Folz, Susan P Manning, Pamela M Swain, Shan-Chuan Zhao, Brenda Eustace,[...]. Am J Hum Genet 2002
888
3


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.