Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic [0.03%]
全基因组测序在医学遗传学门诊的成功应用
David Bick,Pamela C Fraser,Michael F Gutzeit et al.
David Bick et al.
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obt...
Elizabeth McCready
Elizabeth McCready
Roy W A Peake,Olaf A Bodamer
Roy W A Peake
Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditio...
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies [0.03%]
染色体微阵列技术——神经发育性疾病和先天性异常的遗传学解读
Jill A Rosenfeld,Ankita Patel
Jill A Rosenfeld
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndrome...
Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors [0.03%]
宪法表观/遗传条件：基因、表观基因和环境因素
Laila C Schenkel,David Rodenhiser,Victoria Siu et al.
Laila C Schenkel et al.
There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative ...
Machteld M Oud,Ideke J C Lamers,Heleen H Arts
Machteld M Oud
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important ...
Daria Grafodatskaya,Sanaa Choufani,Raveen Basran et al.
Daria Grafodatskaya et al.
Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to impr...
Amanda J Yoon,Binh N Pham,Katrina M Dipple
Amanda J Yoon
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic s...
Mairaj K Ahmed,Xiaoqian Ye,Peter J Taub
Mairaj K Ahmed
Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal...