Results 141 to 150 of about 1,822 (274)

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

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
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

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report. [PDF]

BMC Anesthesiol
Chen Z, Chen X, Liang X, Niu Q, Chan Y, Xu X.   +5 more
europepmc   +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, Volume 197, Issue 10, October 2025.
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

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series. [PDF]

Eur J Pediatr
Piastra M, Zito G, Orr AM, Picconi E, Ferrari V, Pezza L, Marzano L, Morena TC, De Rosa G, Onesimo R, Fedele MC, Tempera A, Genovese O, Racca F, Varone A, Spinazzola G, De Luca D, De Sanctis R, Pane M, Mercuri E, Conti G.   +20 more
europepmc   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 126-134, October 2025.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

BMC Neurol
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counseling

, 1986

openalex   +1 more source

U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.
Shiqin Huang, Mei Li, Hai Yuan, Yunli Han, Xiaolan Chen, Yunxuan Su, Xing Li   +6 more
wiley   +1 more source

Cerebrospinal fluid metabolomics reveals predictive biomarkers of nusinersen therapy efficacy in type II and type III spinal muscular atrophy patients. [PDF]

Neurol Sci
Li D, Sun N, Wu H, Wang X, Shi Y, Yang L, Huang S, Zhang K, Yang C.   +8 more
europepmc   +1 more source

Neuromyelitis Optica Mimicking Multiple Sclerosis: A Case Report and a Comprehensive Review of the Literature

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Post‐gadolinium enhancement of the spinal cord seen in NMO. ABSTRACT Neuromyelitis optica spectrum disorder (NMOSD) may mimic other neurological conditions, including multiple sclerosis (MS). We report a 25‐year‐old woman with hypothyroidism and depression who presented with progressive quadriparesis.
Sunil Thatal, Susmin Karki, Asmita Parajuli, Sweta Bhandari, Bibek K. C., Dibasha Adhikari, Navin Kumar Sah   +6 more
wiley   +1 more source