Results 121 to 130 of about 125,953 (296)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Exome sequencing supports a de novo mutational paradigm for schizophrenia [PDF]

, 2011
Bin Xu, Johannes L. Roos, Phillip J. Dexheimer, Braden Boone, Brooks Plummer, Shawn Levy, Joseph A. Gogos, Maria Karayiorgou   +7 more
openalex   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +1 more source

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV [PDF]

, 2011
J. Fah Sathirapongsasuti, Hane Lee, Basil A. Horst, Georg Brunner, Alistair J. Cochran, Scott W. Binder, John Quackenbush, Stanley F. Nelson   +7 more
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population

Journal of Mind and Medical Sciences
One major cause of prenatal mortality and morbidity is congenital abnormalities. Knowing the prevalence and etiology of congenital malformations is essential for analyzing trends and improving neonatal care.
Ileana-Delia Săbău, Laurentiu-Camil Bohîltea, Viorica Elena Rădoi, Anca Mirela Bardan, Ovidiu Virgil Maioru, Mihaela Țurcan, Viorel Aurel Suciu-Lazar, Iuliana Ceausu   +7 more
doaj   +1 more source

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

, 2009
Murim Choi, Ute I. Scholl, Weizhen Ji, Tiewen Liu, Irina R. Tikhonova, Paul Zumbo, Ahmet Nayır, Ayşı̇n Bakkaloğlu, Seza Özen, Sami A. Sanjad, Carol Nelson‐Williams, Anita Farhi, Shrikant Mane, Richard P. Lifton   +13 more
openalex   +1 more source

Unlocking Mendelian disease using exome sequencing [PDF]

, 2011
Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman   +3 more
openalex   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source