Joshi, Ricky S.; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T.; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E.; Brunner, Han G.; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P.; Gimelli, Giorgio; Jacobson, Samuel G.; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J.; Montgomery, Stephen B.; Pagnamenta, Alistair T.; Papenhausen, Peter; Robinson, David O.; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A.; Surti, Urvashi; Wassink, Thomas; Sharp, Andrew J.

Amoebae-Based Screening Reveals a Novel Family of Compounds Restricting Intracellular Legionella pneumophila

ACS INFECTIOUS DISEASES

IF3.8

2015-05-1614

OAAI

ONCOIMMUNOLOGY

IF6.3

2014-11-1440

OAAI

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2014-07-0922

OAAI

Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2012-04-0157

OAAI

Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens (vol 32, pg 912, 2011)

HUMAN MUTATION

IF3.7

2012-01-120

OAAI

Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens

HUMAN MUTATION

IF3.7

2011-06-0724

OAAI

Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations

HUMAN MUTATION

IF3.7

2010-07-29100

OAAI

Johnston, Jennifer J.; Sapp, Julie C.; Turner, Joyce T.; Amor, David; Aftimos, Salim; Aleck, Kyrieckos A.; Bocian, Maureen; Bodurtha, Joann N.; Cox, Gerald F.; Curry, Cynthia J.; Day, Ruth; Donnai, Dian; Field, Michael; Fujiwara, Ikuma; Gabbett, Michael; Gal, Moran; Graham, John M., Jr.; Hedera, Peter; Hennekam, Raoul C. M.; Hersh, Joseph H.; Hopkin, Robert J.; Kayserili, Hulya; Kidd, Alexa M. J.; Kimonis, Virginia; Lin, Angela E.; Lynch, Sally Ann; Maisenbacher, Melissa; Mansour, Sahar; McGaughran, Julie; Mehta, Lakshmi; Murphy, Helen; Raygada, Margarita; Robin, Nathaniel H.; Rope, Alan F.; Rosenbaum, Kenneth N.; Schaefer, G. Bradley; Shealy, Amy; Smith, Wendy; Soller, Maria; Sommer, Annmarie; Stalker, Heather J.; Steiner, Bernhard; Stephan, Mark J.; Tilstra, David; Tomkins, Susan; Trapane, Pamela; Tsai, Anne Chun-Hui; Van Allen, Margot I.; Vasudevan, Pradeep C.; Zabel, Bernhard; Zunich, Janice; Black, Graeme C. M.; Biesecker, Leslie G.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2010-07-2134

OAAI

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

GENOME RESEARCH

IF5.5

2010-07-1436

OAAI

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level

EUROPEAN JOURNAL OF HUMAN GENETICS