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Human Molecular Genetics|April 17, 2008
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palateBrett T Chiquet, Susan H Blanton, Amber Burt, et al.
Genes|February 25, 2023
KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic DissectionJuan J Velasco, Yupeng Li, Bulat A Ziganshin, et al.
Human Genetics|February 1, 2011
Genetic analysis of biological pathway data through genomic randomizationBrian L Yaspan, William S Bush, Eric S Torstenson, et al.
Case Reports in Genetics|February 2, 2026
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of LiteratureZakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, et al.
Genes|July 27, 2024
Somatic Variants Acquired Later in Life Associated with Thoracic Aortic Aneurysms: JAK2 V617FChristina Waldron, Mohammad A Zafar, Deqiong Ma, et al.
Molecular Cytogenetics|December 9, 2014
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature reviewDeqiong Ma, Robert Marion, Netra Prasad Punjabi, et al.
American Journal of Medical Genetics. Part A|February 24, 2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsJiadi Wen, Hongyan Chai, Brittany Grommisch, et al.
Neurogenetics|June 14, 2006
Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsAnn L Collins, Deqiong Ma, Patrice L Whitehead, et al.
Autism Research : Official Journal of the International Society for Autism Research|March 2, 2011
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosisAnthony J Griswold, Deqiong Ma, Stephanie J Sacharow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney DiseaseDeqiong Ma, Soyoung Cho, Xinmiao Meng, et al.
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