Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Jason C. Carson, Lori Hoffner, Laura Conlin, W. Tony Parks, Rosemary A. Fisher, Nancy Spinner, Svetlana A. Yatsenko, Jeffrey Bonadio, Urvashi Surti Source Type: research

Schaaf ‐Yang syndrome overview: Report of 78 individuals
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf Source Type: research

A de novo in ‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Xiuhua Bozarth, Kimberly Foss, Heather C. Mefford Source Type: research

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Didem Dagdeviren, Faleh Tamimi, Brendan Lee, Reid Sutton, Frank Rauch, Jean ‐Marc Retrouvey Source Type: research

Prenatal profile of Pallister ‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: E Salzano, SE Raible, M Kaur, A Wilkens, G Sperti, RK Tilton, LR Bettini, A Rocca, G Cocchi, A Selicorni, LK Conlin, D McEldrew, R Gupta, S Thakur, K Izumi, ID Krantz Source Type: research

The characteristics of temper outbursts in Prader –Willi syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Lauren J. Rice, Kate Woodcock, Stewart L. Einfeld Source Type: research

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Laura M. McDonell, Gordon Ka ‐Chun Leung, Hussein Daoud, Janice Ip, Stella Chim, Ho Ming Luk, Lawrence Lan, Care4Rare Canada Consortium, Kym M. Boycott, Brian Hon‐Yin Chung Source Type: research

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al ‐Raqad syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Viola Alesi, Rossella Capolino, Silvi Genovesea, Teresa Capriati, Sara Loddo, Giusy Calvieri, Chiara Calacci, Andrea Diociaiuti, Antonella Diamanti, Antonio Novelli, Bruno Dallapiccola Source Type: research

Preliminary observations of mitochondrial dysfunction in Prader –Willi syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Merlin G. Butler, Waheeda A. Hossain, Robert Tessman, Partha C. Krishnamurthy Source Type: research

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Yingjie Zhao, Tingwei Guo, Ania Fiksinski, Elemi Breetvelt, Donna M. McDonald ‐McGinn, Terrence B. Crowley, Alexander Diacou, Maude Schneider, Stephan Eliez, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Eva W. C. Chow, Doron Gothelf, Sas Source Type: research

Copy number variants in hypoplastic right heart syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Andreas Giannakou, Robert J. Sicko, Denise M. Kay, Wei Zhang, Paul A. Romitti, Michele Caggana, Gary M. Shaw, Laura L. Jelliffe ‐Pawlowski, James L. Mills Source Type: research

Basan gets a new fingerprint: Mutations in the skin ‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Monica N. Valentin, Benjamin D. Solomon, Gabriele Richard, Carlos R. Ferreira, Anna Yasmine Kirkorian Source Type: research

Risk of hepatic neoplasms in Wolf –Hirschhorn syndrome (4p‐): Four new cases and review of the literature
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Agatino Battaglia, Amy R.U.L. Calhoun, Amanda Lortz, John C. Carey Source Type: research

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Yuri Sakaguchi, Tomoko Uehara, Hisato Suzuki, Yoshiaki Sakamoto, Mineko Fujiwara, Kenjiro Kosaki, Toshiki Takenouchi Source Type: research

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Kathrin Blaesius, Ansar A. Abbasi, Tufail H. Tahir, Anna Tietze, Sylvie Picker ‐Minh, Ghazanfar Ali, Sundas Farooq, Hao Hu, Zahid Latif, Muhammad N. Khan, Angela Kaindl Source Type: research