Volume 6, Number 2, Year 2017
Original ArticlesDavid Bick, Pamela C. Fraser, Michael F. Gutzeit, Jeremy M. Harris, Tina M. Hambuch, Daniel C. Helbling, Howard J. Jacob, Juliet N. Kersten, Steven R. Leuthner, Thomas May, Paula E. North, Sasha Z. Prisco, Bryce A. Schuler, Mary Shimoyama, Kimberly A. Strong, Scott K. Van Why, Regan Veith, James Verbsky, Arthur M. Weborg, Brandon M. Wilk, Rodney E. Willoughby, Elizabeth A. Worthey, and David P. Dimmock
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic
Clark R. Murray, Samantha N. Abel, Matthew B. McClure, Joseph Foster, Maria I. Walke, Parul Jayakar, Guney Bademci, and Mustafa Tekin
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features
Hela Ben Khelifa, Najla Soyah, Audrey Labalme, Helene Guilbert, Damien Sanlaville, Ali Saad, and Soumaya Mougou-Zerelli
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation
Keerti Singh and Alok Kumar
Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993–2012
Case Reports
Carmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, Maria Teresa Pellico, Bartolomeo Augello, Natascia Malerba, Leopoldo Zelante, Alexandre Reymond, and Giuseppe Merla
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
Antonio Richieri-Costa, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, and Lucilene Arilho Ribeiro-Bicudo
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings
Tanya C. Allawh and Barry Scott Brown
The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2
Ranjit I. Kylat
What Is the Teratogenic Risk of Mycophenolate?
Sethuraman Swaminathan, Sudheer R. Gorla, and Deborah S. Barbouth
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia
Ebtesam M. Abdalla and Ahmed A. El-Beheiry
Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant
Ranjit I. Kylat
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature
Ira Shah and Sujeet Chilkar
Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child
Book Review
Michael Muriello and Joann N. Bodurtha
Essential Mednotes—Comprehensive Medical Reference & Review for USMLE II and MCCQE I