Results 161 to 170 of about 237,110 (353)

Author response for "Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis"

, 2021
Manna Jose, Prashant Poulose, Soumya Sundaram, Ashalatha Radhakrishnan, Sheela Nampoothiri, Ramshekhar N. Menon   +5 more
openalex   +1 more source

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract [PDF]

, 2020
Vanita Berry, Alex Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides   +6 more
openalex   +1 more source

Schizophrenia exomes [PDF]

Nature Genetics, 2013
openaire   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

Frontiers in Genetics
IntroductionInherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial.
José L. Santos, José L. Santos, José Patricio Miranda, José Patricio Miranda, Carlos F. Lagos, Carlos F. Lagos, Víctor A. Cortés   +6 more
doaj   +1 more source

Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing

, 2014
Jennifer A. Kearney
openalex   +1 more source

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report [PDF]

, 2017
Amelie T. van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw‐Yang Hwang, Kristen M. Laricchia, Monkol Lek, Velibor Tasić, Friedhelm Hildebrandt   +9 more
openalex   +1 more source

Data from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

, 2023
Sergey I. Nikolaev, Sotirios K. Sotiriou, Ioannis S. Pateras, Federico Santoni, Stavros Sougioultzis, Henrik Edgren, Henrikki Almusa, Daniel Robyr, Michel Guipponi, Janna Saarela, Vassilis G. Gorgoulis, Stylianos E. Antonarakis, Thanos D. Halazonetis   +12 more
openalex   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency [PDF]

, 2020
Craig D. Platt, Fatima Zaman, Wayne Bainter, Kelsey Stafstrom, Abuarahman Almutairi, Margot Reigle, Sabrina Weeks, Raif S. Geha, Janet Chou   +8 more
openalex   +1 more source