Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 6

Results: 38

Cover Image, Volume 191A, Number 6, June 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. i, doi. 10.1002/ajmg.a.63248
Publication type:: Article

Clinical exome sequencing findings in 1589 patients.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1557, doi. 10.1002/ajmg.a.63190

By:

Gorukmez, Ozlem;
Gorukmez, Orhan;
Topak, Ali

Publication type:

Article

Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1632, doi. 10.1002/ajmg.a.63182

By:

Tamura, Takeaki;
Shimojima Yamamoto, Keiko;
Imaizumi, Taichi;
Yamamoto, Hisako;
Miyamoto, Yusaku;
Yagasaki, Hiroshi;
Morioka, Ichiro;
Kanno, Hitoshi;
Yamamoto, Toshiyuki

Publication type:

Article

An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1530, doi. 10.1002/ajmg.a.63180

By:

Yüksel Ülker, Aylin;
Uludağ Alkaya, Dilek;
Çağlayan, Ahmet Okay;
Usluer, Esra;
Aykut, Ayça;
Aslanger, Ayça;
Vural, Mehmet;
Tüysüz, Beyhan

Publication type:

Article

Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1626, doi. 10.1002/ajmg.a.63179

By:

Shah, Rameen;
Johnsen, Christin;
Pletcher, Beth A.;
Edmondson, Andrew C.;
Kozicz, Tamas;
Morava, Eva

Publication type:

Article

ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1652, doi. 10.1002/ajmg.a.63189

By:

Spencer, Careni;
Comitis, George;
Lawrenson, John;
Fieggen, Karen

Publication type:

Article

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1664, doi. 10.1002/ajmg.a.63184

By:

Bhola, Priya T.;
Marshall, Aren E.;
Liang, Yijing;
Couse, Madeline;
Wang, Xueqi;
Miller, Elka;
Morel, Chantal F.;
Boycott, Kym M.;
Kernohan, Kristin D.

Publication type:

Article

Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1669, doi. 10.1002/ajmg.a.63183

By:

Corona‐Rivera, Jorge Román;
Bustos Rodríguez, Felipe de Jesús;
Vega‐Silva, Laura Leticia;
Hernández‐Camarena, Fernando;
Peña‐Padilla, Christian;
Castillo‐Reyes, Katia Alejandra;
Cruz‐Cruz, Jessica Paola;
Bobadilla‐Morales, Lucina;
Corona‐Rivera, Alfredo

Publication type:

Article

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1646, doi. 10.1002/ajmg.a.63188

By:

Baker, Elizabeth K.;
Al Gharaibeh, Faris N.;
Bove, Kevin;
Calvo‐Garcia, Maria A.;
Shillington, Amelle;
VandenHeuvel, Katherine;
Cortezzo, DonnaMaria E.

Publication type:

Article

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1639, doi. 10.1002/ajmg.a.63186

By:

Le, Hong;
Jin, Eva;
Jewell, Ann;
Jackson‐Cook, Colleen;
Haskell, Gloria T.;
Couser, Natario

Publication type:

Article

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185

By:

Sok, Pagna;
Sabo, Aniko;
Almli, Lynn M.;
Jenkins, Mary M.;
Nembhard, Wendy N.;
Agopian, A. J.;
Bamshad, Michael J.;
Blue, Elizabeth E.;
Brody, Lawrence C.;
Brown, Austin L.;
Browne, Marilyn L.;
Canfield, Mark A.;
Carmichael, Suzan L.;
Chong, Jessica X.;
Dugan‐Perez, Shannon;
Feldkamp, Marcia L.;
Finnell, Richard H.;
Gibbs, Richard A.;
Kay, Denise M.;
Lei, Yunping

Publication type:

Article

Autosomal dominant inheritance with sex‐limited infertility.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1672, doi. 10.1002/ajmg.a.63178

By:

Daum, Hagit;
Zlotogora, Joël

Publication type:

Article

PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1619, doi. 10.1002/ajmg.a.63177

By:

Corriveau, Melina L.;
Amaya, Sabrina I.;
Koebel, Mary Clare;
Lerma, Vanesa C.;
Michener, Sydney L.;
Turner, Alicia;
Schultz, Rebecca J.;
Seto, Elaine S.;
Diaz‐Medina, Gloria E.;
Craigen, William J.;
Swann, John W.;
Xue, Mingshan;
Chao, Hsiao‐Tuan

Publication type:

Article

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1614, doi. 10.1002/ajmg.a.63176

By:

Kashima, Daniel T.;
Sloan‐Heggen, Christina M.;
Gottlieb‐Smith, Rachel J.;
Barone Pritchard, Amanda

Publication type:

Article

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1607, doi. 10.1002/ajmg.a.63175

By:

Oh, Rachel Youjin;
Chun, Kathy;
Kowalski, Paul E.;
Chitayat, David

Publication type:

Article

Predicting factors of neurodevelopmental performance in children with phenylketonuria.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1525, doi. 10.1002/ajmg.a.63174

By:

Azevedo Soares, Célia;
Ferreira Almeida, Manuela;
Soares, Gabriela;
Tkachenko, Natália;
Fortuna, Ana Maria;
Carmona, Carla

Publication type:

Article

Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1658, doi. 10.1002/ajmg.a.63173

By:

Royer‐Bertrand, Beryl;
Lebon, Sébastien;
Craig, Ailsa;
Maeder, Johanna;
Mittaz‐Crettol, Laureane;
Fodstad, Heidi;
Superti‐Furga, Andrea;
Good, Jean‐Marc

Publication type:

Article

Before diagnosing a stroke‐like episode, a stroke‐like lesion must be documented on multimodal cerebral MRI.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1677, doi. 10.1002/ajmg.a.63172

By:

Finsterer, Josef;
Mehri, Sounira

Publication type:

Article

High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1518, doi. 10.1002/ajmg.a.63171

By:

Hernandez, Patricia V.;
King, Katherine A.;
Evenson, Michael J.;
Corliss, Meagan M.;
Schroeder, Molly C.;
Heusel, Jonathan W.;
Neidich, Julie A.;
Cao, Yang

Publication type:

Article

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170

By:

Kiss, Sharmila;
Christodoulou, John;
Thorburn, David R.;
Freeman, Jeremy L.;
Kornberg, Andrew J.;
Mandelstam, Simone;
Compton, Alison G.;
Cummings, Beryl;
Pais, Lynn;
Yaplito‐Lee, Joy;
White, Susan M.

Publication type:

Article

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic‐restrictive cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1508, doi. 10.1002/ajmg.a.63169

By:

Gaudreault, Nathalie;
Ruel, Louis‐Jacques;
Henry, Cyndi;
Schleit, Jennifer;
Lagüe, Patrick;
Champagne, Jean;
Sénéchal, Mario;
Sarrazin, Jean‐François;
Philippon, François;
Bossé, Yohan;
Steinberg, Christian

Publication type:

Article

Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1502, doi. 10.1002/ajmg.a.63168

By:

Pietri‐Toro, Jariselle M.;
Gardner, Olivia K.;
Leuchter, Jessica D.;
DiBartolomeo, Gabrielle;
Hunter, Juanita A.;
Forghani, Irman

Publication type:

Article

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1593, doi. 10.1002/ajmg.a.63167

By:

Boerkoel, Pierre;
Huynh, Stephanie;
Yang, Gui Xiang;
Boerkoel, Cornelius F.;
Patel, Millan S.;
Lehman, Anna;
Terry, Jefferson;
Elbert, Adrienne

Publication type:

Article

Whither social media and clinical genetics?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1489, doi. 10.1002/ajmg.a.63166

By:

Gunter, Chris;
Solomon, Benjamin D.

Publication type:

Article

Correction to "Vestibular and audiological findings in the Alport syndrome".

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1679, doi. 10.1002/ajmg.a.63165
Publication type:: Article

Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1586, doi. 10.1002/ajmg.a.63164

By:

Conti, Beatrice;
Rinaldi, Berardo;
Rimoldi, Martina;
Villa, Roberta;
Iascone, Maria;
Gangi, Silvana;
Porro, Matteo;
Ajmone, Paola Francesca;
Colli, Anna Maria;
Mosca, Fabio;
Bedeschi, Maria Francesca

Publication type:

Article

Bisphosphonate treatment at spondylo‐ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1581, doi. 10.1002/ajmg.a.63163

By:

Buyukyilmaz, Gonul;
Adiguzel, Keziban Toksoy;
Kılıc, Esra

Publication type:

Article

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1576, doi. 10.1002/ajmg.a.63162

By:

Tamma, Poornima L.;
Streff, Haley;
Murali, Chaya N.

Publication type:

Article

Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1675, doi. 10.1002/ajmg.a.63161

By:

Morrison, Patrick J.

Publication type:

Article

Behold the appearance of the seemingly "absent" fibula: Reconsidering the taxonomy of congenital limb anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1656, doi. 10.1002/ajmg.a.63160

By:

Hootnick, David R.

Publication type:

Article

MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1492, doi. 10.1002/ajmg.a.63159

By:

Tise, Christina G.;
Verscaj, Courtney P.;
Mendelsohn, Bryce A.;
Woods, Jeremy;
Lee, Chung U.;
Enns, Gregory M.;
Stander, Zinandré;
Hall, Patricia L.;
Cowan, Tina M.;
Cusmano‐Ozog, Kristina P.

Publication type:

Article

Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1570, doi. 10.1002/ajmg.a.63158

By:

Albokhari, Daniah;
Bailey, Christopher R.;
Hwang, Francis;
Weiss, Clifford R.;
Forsberg, Jonathan;
Sobreira, Nara

Publication type:

Article

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1565, doi. 10.1002/ajmg.a.63157

By:

Graziani, Ludovico;
Cinnirella, Giacomo;
Ferradini, Valentina;
Conte, Chiara;
Bascio, Federica Lo;
Bengala, Mario;
Sangiuolo, Federica;
Novelli, Giuseppe

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1488, doi. 10.1002/ajmg.a.62812
Publication type:: Article

Fertility Clinic Sued for Implanting Embryo Carrying Cancer Gene.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1486, doi. 10.1002/ajmg.a.62811
Publication type:: Article

Promising Results with Direct‐to‐Brain Gene Therapy.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1485, doi. 10.1002/ajmg.a.62810
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1484, doi. 10.1002/ajmg.a.62809
Publication type:: Article

Table of Contents, Volume 191A, Number 6, June 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1479, doi. 10.1002/ajmg.a.62808
Publication type:: Article