A citation-based method for searching scientific literature

Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo, Patrick Rump, Constantine A Stratakis, Elizabeth M Thompson, Mary Willis, Thomas L Winder, Alexander A L Jorge, Erich Roessler, Maximilian Muenke. J Med Genet 2014
Times Cited: 41







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



Times Cited
  Times     Co-cited
Similarity


Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
239
70

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Gabriela A Vasques, Claudia C Leite, Berenice B Mendonca, Ivo J P Arnhold. J Clin Endocrinol Metab 2010
73
41

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
127
41

Role of GLI2 in hypopituitarism phenotype.
Ivo J P Arnhold, Marcela M França, Luciani R Carvalho, Berenice B Mendonca, Alexander A L Jorge. J Mol Endocrinol 2015
39
41

Clinical findings in patients with GLI2 mutations--phenotypic variability.
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
43
34

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Sietske H G Kevelam, Jeske J T van Harssel, Bert van der Zwaag, Hubertus J M Smeets, Aimee D C Paulussen, Klaske D Lichtenbelt. Am J Med Genet A 2012
23
47

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Aline P Otto, Fernanda A Correa, Berenice B Mendonca, Ivo J P Arnhold. Clin Endocrinol (Oxf) 2013
26
38

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
G M C Flemming, J Klammt, G Ambler, Y Bao, W F Blum, C Cowell, K Donaghue, N Howard, A Kumar, J Sanchez,[...]. J Clin Endocrinol Metab 2013
26
38

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
95
24

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
43
24

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
861
21

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Jeffrey E Ming, Michelle E Kaupas, Erich Roessler, Han G Brunner, Mahin Golabi, Mustafa Tekin, Robert F Stratton, Eva Sujansky, Sherri J Bale, Maximilian Muenke. Hum Genet 2002
162
21

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
41
21

Genetic regulation of pituitary gland development in human and mouse.
Daniel Kelberman, Karine Rizzoti, Robin Lovell-Badge, Iain C A F Robinson, Mehul T Dattani. Endocr Rev 2009
252
19

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
240
19

Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
109
19

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D Solomon, C Evan Siple, Chen-Ming Fan, Maximilian Muenke. Hum Genet 2012
43
19

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
Mark J McCabe, Carles Gaston-Massuet, Vaitsa Tziaferi, Louise C Gregory, Kyriaki S Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, I Sadaf Farooqi, Jamal Raza,[...]. J Clin Endocrinol Metab 2011
82
19

NOTCH, a new signaling pathway implicated in holoprosencephaly.
Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, Georges Bourrouillou, Usha Kini, Christel Thauvin-Robinet, Timothy P Bohan,[...]. Hum Mol Genet 2011
36
22

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
Ulrike Kordaß, Carmen Schröder, Miriam Elbracht, Lukas Soellner, Thomas Eggermann. Am J Med Genet A 2015
11
72

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
R Mo, A M Freer, D L Zinyk, M A Crackower, J Michaud, H H Heng, K W Chik, X M Shi, L C Tsui, S H Cheng,[...]. Development 1997
478
17

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
M T Dattani, J P Martinez-Barbera, P Q Thomas, J M Brickman, R Gupta, I L Mårtensson, H Toresson, M Fox, J K Wales, P C Hindmarsh,[...]. Nat Genet 1998
500
17

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
P Gustavsson, J Schoumans, J Staaf, G Jönsson, F Carlsson, U Kristoffersson, A Borg, M Nordenskjöld, N Dahl. Clin Genet 2006
15
46


Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
K Machinis, J Pantel, I Netchine, J Léger, O J Camand, M L Sobrier, F Dastot-Le Moal, P Duquesnoy, M Abitbol, P Czernichow,[...]. Am J Hum Genet 2001
174
17

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
51
17

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke,[...]. Nat Genet 2000
304
17

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
104
17

Hedgehog signaling is required for pituitary gland development.
M Treier, S O'Connell, A Gleiberman, J Price, D P Szeto, R Burgess, P T Chuang, A P McMahon, M G Rosenfeld. Development 2001
210
17

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
L C Gregory, C Gaston-Massuet, C L Andoniadou, G Carreno, E A Webb, D Kelberman, M J McCabe, L Panagiotakopoulos, J W Saldanha, H A Spoudeas,[...]. Clin Endocrinol (Oxf) 2015
19
36

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
17


BOC is a modifier gene in holoprosencephaly.
Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L Allen, Daniel J Leahy, Ping Hu, Erich Roessler, Robert S Krauss, Maximilian Muenke. Hum Mutat 2017
20
35

Genetic forms of hypopituitarism and their manifestation in the neonatal period.
Kyriaki S Alatzoglou, Mehul T Dattani. Early Hum Dev 2009
70
14

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
Christina Tatsi, Amalia Sertedaki, Antonis Voutetakis, Eleni Valavani, Maria-Alexandra Magiakou, Christina Kanaka-Gantenbein, George P Chrousos, Catherine Dacou-Voutetakis. J Clin Endocrinol Metab 2013
35
17

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
128
14

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Kathryn S Woods, Maria Cundall, James Turton, Karine Rizotti, Ameeta Mehta, Rodger Palmer, Jacqueline Wong, W K Chong, Mahmoud Al-Zyoud, Maryam El-Ali,[...]. Am J Hum Genet 2005
166
14


New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
78
14

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
June M de la Cruz, Richard N Bamford, Rebecca D Burdine, Erich Roessler, A James Barkovich, Dian Donnai, Alexander F Schier, Maximilian Muenke. Hum Genet 2002
81
14

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Roland W Pfaeffle, Chad S Hunter, Jesse J Savage, Mario Duran-Prado, Rachel D Mullen, Zachary P Neeb, Urs Eiholzer, Volker Hesse, Nadine G Haddad, Heike M Stobbe,[...]. J Clin Endocrinol Metab 2008
71
14

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly.
Wei Zhang, Jong-Sun Kang, Francesca Cole, Min-Jeong Yi, Robert S Krauss. Dev Cell 2006
197
14

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen,[...]. J Med Genet 2012
54
14

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
162
14

Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation.
H L Park, C Bai, K A Platt, M P Matise, A Beeghly, C C Hui, M Nakashima, A L Joyner. Development 2000
521
14

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Francesca De Rienzo, Simona Mellone, Simonetta Bellone, Deepak Babu, Ileana Fusco, Flavia Prodam, Antonella Petri, Ranjith Muniswamy, Filippo De Luca, Mariacarolina Salerno,[...]. Clin Endocrinol (Oxf) 2015
51
14

Functional analysis of mutations in TGIF associated with holoprosencephaly.
Kenia B El-Jaick, Shannon E Powers, Laurent Bartholin, Kenneth R Myers, Jin Hahn, Ieda M Orioli, Maia Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton,[...]. Mol Genet Metab 2007
57
14

Gli proteins in development and disease.
Chi-Chung Hui, Stephane Angers. Annu Rev Cell Dev Biol 2011
469
14

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Erich Roessler, Wuhong Pei, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge Ivan Veléz, Sharmilla Banerjee-Basu, Gretchen Gibney, Philip J Lupo, Laura E Mitchell, Jeffrey A Towbin,[...]. Mol Genet Metab 2009
53
14

Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
29
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.