ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor by Shigeru Shibata, Kenichi Ishizawa, Qin Wang, Ning Xu, Toshiro Fujita, Shunya Uchida, Richard P. Lifton

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Quantifying concordant genetic effects of de novo mutations on multiple disorders by Hanmin Guo, Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li, Richard P Lifton, Martina Brueckner, Hongyu Zhao, Qiongshi Lu

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Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis. by Tingting Jiang, Weiwei Shi, Vikram B Wali, Lőrinc S Pongor, Charles Li, Rosanna Lau, Balázs Győrffy, Richard P Lifton, William F Symmans, Lajos Pusztai, Christos Hatzis

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Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3 by August A. Allocco, Sheng Chih Jin, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Murat Gunel, Richard P. Lifton, Richard P. Lifton, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle

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A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family by Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja

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LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility by Jae Yeon Hwang, Pengxin Chai, Shoaib Nawaz, Jungmin Choi, Francesc Lopez-Giraldez, Shabir Hussain, Kaya Bilguvar, Shrikant Mane, Richard P Lifton, Wasim Ahmad, Kai Zhang, Jean-Ju Chung

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Mutation spectrum of congenital heart disease in a consanguineous Turkish population by Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner

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130. De Novo Mutations in 555 Trios Implicate Chromatin Modification, Transcriptional Regulation, and Retinoic Acid Signaling in Syndromic Craniosynostosis by Andrew Timberlake, MD, PhD, Garrett Allington, BS, Emre Kiziltug, BS, Erin Wolfe, BS, John Persing, MD, Richard P. Lifton, MD, PhD, Gene Dx, Kristopher T. Kahle, MD, PhD

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Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities by Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl

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Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis by Andrew T. Timberlake, PhD, Charuta G. Furey, BS, Jungmin Choi, PhD, Carol Nelson-Williams, BS, Derek M. Steinbacher, DMD MD, Dawid Larysz, MD, John A. Persing, MD, Richard P. Lifton, MD PhD

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Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation by Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD

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The Congenital Heart Disease Genetic Network Study: Cohort description. by Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian

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Loss of RNA expression and allele-specific expression associated with congenital heart disease by David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb, J. G. Seidman

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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism by Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia by Weilai Dong, Karen H.Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger

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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles by Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton

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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. by Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt

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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. by James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley

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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease by Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen

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Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome by Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Tobias Hermle, Ana C. Onuchic-Whitford, Wei Zhou, Nandini Nagarajan Margam, Roy Duncan, Jonathan Marquez, Mustafa Khokha, Hanan M. Fathy, Jameela A. Kari, Sherif El Desoky, Loai A. Eid, Hazem Subhi Awad, Muna Al-Saffar, Shrikant Mane, Richard P. Lifton, Dieter O. Fürst, Shirlee Shril, Friedhelm Hildebrandt

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