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Journal of Genetic Counseling|July 18, 2019
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectivesEmily Thain, Cheryl Shuman, Kristen Miller, et al.
The Laryngoscope|June 10, 2009
Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromesJohn R de Almeida, Adrian L James, Blake C Papsin, et al.
The Journal of Physical Chemistry Letters|April 7, 2020
Locating Cytosine Conical Intersections by Laser Experiments and Ab Initio CalculationsMaria A Trachsel, Susan Blaser, Simon Lobsiger, et al.
Molecular Genetics and Metabolism Reports|October 26, 2020
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature reviewWhiwon Lee, Gregory Costain, Susan Blaser, et al.
Neuroimaging Clinics of North America|November 22, 2025
Fetal and Neonatal Brain Tumors: An Imaging ReviewVivek Pai, Neetika Gupta, Elka Miller, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 27, 2015
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndromeJessie M Cameron, Nevena MacKay, Annette Feigenbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
American Journal of Obstetrics and Gynecology|September 19, 2002
Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomesDavid Chitayat, Sandra A Farrell, Tianhua Huang, et al.
Human Genetics|November 4, 2008
Ataxia and pancytopenia caused by a mutation in TINF2Elena Tsangaris, Sally-Lin Adams, Grace Yoon, et al.
American Journal of Medical Genetics. Part A|July 7, 2025
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5Yael Fisher, Orli Greenberg, Patrick Shannon, et al.
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