Results 131 to 140 of about 47,631 (258)

Familial lupus associated with a <i>P2RY8</i> variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus. [PDF]

J Hum Immun
David C, Welfringer-Morin A, Seabra L, Crow YJ, Jachiet M, Frémond ML.   +5 more
europepmc   +1 more source

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

, 2023
Beaumont RN, Hawkes G, Gunning AC, Wright CF.   +3 more
europepmc   +1 more source

A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals. [PDF]

Nucleic Acids Res, 2020
Turakhia Y, Chen HI, Marcovitz A, Bejerano G.   +3 more
europepmc   +1 more source

Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era

Movement Disorders, EarlyView.
Marco Percetti, Vidal Yahya, Alessio Di Fonzo, Edoardo Monfrini   +3 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses. [PDF]

Hum Reprod
Schadwell A, Whiting O, Xanthopoulou L, Colls P, Bakosi E, Goodall NN, Ribustello L, Ellis P, Gordon T, Griffin DK.   +9 more
europepmc   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome. [PDF]

Hum Genet
Soliman NA, Elmonem MA, El-Sayed AF, Ramadan E, Badr AM, Atia FM, Helmy R, Amer MO, El-Raouf AA, El-Garhy FM, Abdel-Haseb OM, Hassan TM, Farouk YK, El-Hosseiny A, Bakry U, Ali A, Saleeb S, Ghanim TA, Albarbary M, Elmahy A, Elnagdy T, Ragheb A, Hassan WA, Moustafa A, Amer K.   +24 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Diagnostic delay in monogenic disease: A scoping review. [PDF]

Genet Med
Tinker RJ, Fisher M, Gimeno AF, Gill K, Ivey C, Peterson JF, Bastarache L.   +6 more
europepmc   +1 more source