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Pediatric Dermatology|October 15, 2011
New syndrome of congenital circumferential skin folds associated with multiple congenital anomaliesLina Basel-Vanagaite, Eli Sprecher, Andrea Gat, et al.
European Journal of Medical Genetics|February 15, 2011
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL associationNneamaka B Agochukwu, Daniel E Pineda-Alvarez, Amelia A Keaton, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Clinical geneticists' views of VACTERL/VATER associationBenjamin D Solomon, Kelly A Bear, Virginia Kimonis, et al.
Cold Spring Harbor Molecular Case Studies|July 14, 2017
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathyDale L Bodian, Thierry Vilboux, Suchitra K Hourigan, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 18, 2013
Analysis of cardiac anomalies in VACTERL associationBridget K Cunningham, Donald W Hadley, Hwaida Hannoush, et al.
American Journal of Medical Genetics. Part A|February 26, 2015
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndromeBenjamin D Solomon, Dale L Bodian, Alina Khromykh, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Molecular Genetics & Genomic Medicine|December 18, 2018
Cancer genetics program: Follow-up on clinical genetics and genomic medicine in QatarSalha Bujassoum Al-Bader, Reem Alsulaiman, Hekmet Bugrein, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
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