Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 12

Results: 25

An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2856, doi. 10.1002/ajmg.a.63372

By:

Rudd, Ignatius;
Gill, Gulvir;
Buckley, Michael;
Downie, Lilian

Publication type:

Article

The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2890, doi. 10.1002/ajmg.a.63378

By:

Strasser, Lauren;
Doja, Asif;
Davila, Jorge;
Chakraborty, Pranesh;
Bourque, Danielle K.

Publication type:

Article

Atlantoaxial instability associated with ALDH18A1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2898, doi. 10.1002/ajmg.a.63388

By:

Lucas, Alexandra T.;
Lin, Angela E.;
Cohen, Andrew;
Muñoz, William;
Kahle, Kristopher T.;
Shin, John H.;
Buch, Karen;
Sahai, Inderneel;
Carroll, Ryan W.

Publication type:

Article

Are CUL3 variants an underreported cause of congenital heart disease?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2903, doi. 10.1002/ajmg.a.63387

By:

Di Francesco, Daniela;
Swenerton, Anne;
Li, Wenhui Laura;
Dunham, Christopher;
Hendson, Glenda;
Boerkoel, Cornelius F.

Publication type:

Article

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2873, doi. 10.1002/ajmg.a.63383

By:

Furuta, Yutaka;
Nelson, Erica T.;
Neumann, Serena M.;
Phillips, John A.;
Hamid, Rizwan;
Tinker, Rory J.;
Cogan, Joy D.;
Rives, Lynette;
Newman, John H.

Publication type:

Article

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2806, doi. 10.1002/ajmg.a.63408

By:

Peled, Alon;
Sarig, Ofer;
Mohamad, Janan;
Eskin‐Schwartz, Marina;
Vodo, Dan;
Bochner, Ron;
Malchin, Natalya;
Isakov, Ofer;
Shomron, Noam;
Fainberg, Gilad;
Bertolini, Marta;
Paus, Ralf;
Sprecher, Eli

Publication type:

Article

Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2913, doi. 10.1002/ajmg.a.63400

By:

Wright, Dale Cameron;
Baluyot, Maria Lourdes;
Carmichael, Johanna;
Darmanian, Artur;
Jose, Ngaire;
Ngo, Con;
Heaps, Luke St;
Yendle, Amber;
Holman, Katherine;
Ziso, Sylvia;
Khan, Feroza;
Masi, Anne;
Silove, Natalie;
Eapen, Valsa

Publication type:

Article

Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2868, doi. 10.1002/ajmg.a.63376

By:

Thompson, Zachary E.;
Boyd, Natalie K.;
Khoshnood, Mellad M.;
Santoro, Jonathan D.

Publication type:

Article

A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2884, doi. 10.1002/ajmg.a.63374

By:

Coleman, John;
Kavanagh, Karl;
Kesterton, Ian;
Hegarty, Ann‐Marie;
O'Connell, Susan M.;
Lynch, Sally Ann

Publication type:

Article

Congenital diaphragmatic hernia in siblings with PIGA‐related congenital disorder of glycosylation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2860, doi. 10.1002/ajmg.a.63373

By:

Crenshaw, Molly M.;
Thompson, Lauren;
Piqué, Daniel G.;
Micke, Kestutis;
Saenz, Margarita;
Baker, Peter R.

Publication type:

Article

Further characterization of CEP85L‐associated lissencephaly type 10: Report of a three‐generation family and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2878, doi. 10.1002/ajmg.a.63380

By:

Leduc‐Pessah, Heather;
White‐Brown, Alexandre;
Miller, Elka;
McMillan, Hugh J.;
Boycott, Kym M.

Publication type:

Article

A Noonan‐like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2837, doi. 10.1002/ajmg.a.63370

By:

Chida‐Nagai, Ayako;
Tonoki, Hidefumi;
Makita, Naomasa;
Ishiyama, Hiroyuki;
Ihara, Masafumi;
Maruo, Yuji;
Tsujioka, Takao;
Sasaki, Daisuke;
Izumi, Gaku;
Yamazawa, Hirokuni;
Kato, Nobuyasu;
Ito, Masaki;
Fujimura, Miki;
Sasaki, Osamu;
Takeda, Atsuhito

Publication type:

Article

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2843, doi. 10.1002/ajmg.a.63368

By:

Gkiourtzis, Nikolaos;
Tramma, Despoina;
Papadopoulou‐Legbelou, Kyriaki;
Moutafi, Maria;
Evangeliou, Athanasios

Publication type:

Article

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2831, doi. 10.1002/ajmg.a.63367

By:

Sajan, Samin A.;
Brown, Carolyn M.;
Davis‐Keppen, Laura;
Burns, Kaitlyn;
Royer, Erin;
Coleman, Jessica A. Cooley;
Hilton, Benjamin A.;
DuPont, Barbara R.;
Perry, Denise L.;
Taft, Ryan J.;
Kesari, Akanchha

Publication type:

Article

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2825, doi. 10.1002/ajmg.a.63366

By:

Koti, Ajay S.;
Lanis, Aviya;
Finlayson, Samuel;
Canny, Susan;
Feldman, Elana A.;
Miller, Danny E.;
Rosenwasser, Natalie;
Scott, Abbey A.;
Wong, Stephen C.;
Feldman, Kenneth W.

Publication type:

Article

Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2908, doi. 10.1002/ajmg.a.63365

By:

Farrow, Emily;
Jay, Allison;
Means, John;
Younger, Scott;
Biswell, Rebecca;
Koseva, Boryana;
Thiffault, Isabelle;
Pastinen, Tomi;
Pappas, Kara;
Toriello, Helga

Publication type:

Article

A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole‐exome sequencing and a literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2850, doi. 10.1002/ajmg.a.63364

By:

Hu, Jiaxin;
Yang, Huihui;
Wang, Xiaowen;
Ding, Juanjuan;
Liao, Panli;
Zhu, Gaohong;
Qi, Chang

Publication type:

Article

A 22q13.1 duplication in mosaicism including SOX10.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2813, doi. 10.1002/ajmg.a.63362

By:

Bertani‐Torres, William;
Serey‐Gaut, Margaux;
de Oliveira, Judite;
Bole, Christine;
Parisot, Mélanie;
Nistschké, Patrick;
Maurin, Marie‐Laure;
Lapierre, Jean‐Michel;
Loundon, Natalie;
Belhous, Kahina;
Bondurand, Nadège;
Marlin, Sandrine;
Pingault, Véronique

Publication type:

Article

Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2819, doi. 10.1002/ajmg.a.63361

By:

Wang, Heng;
Ruan, Gechong;
Yang, Shan;
Li, Hui;
Sun, Zixi;
Tian, Bowen;
Yan, Pengguang;
Li, Yue;
Yang, Hong;
Zhong, Yong;
Qian, Jiaming

Publication type:

Article

The importance of age‐specific gene expression.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2801, doi. 10.1002/ajmg.a.63354

By:

Hall, Judith G.

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2800, doi. 10.1002/ajmg.a.62842
Publication type:: Article

Sequencing the Y Chromosome.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2798, doi. 10.1002/ajmg.a.62841
Publication type:: Article

Neolithic Community Revealed Using Ancient DNA Data.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2797, doi. 10.1002/ajmg.a.62840
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2796, doi. 10.1002/ajmg.a.62839
Publication type:: Article

Table of Contents, Volume 191A, Number 12, December 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2793, doi. 10.1002/ajmg.a.62838
Publication type:: Article