Journal list menu

• 
  Issue

  American Journal of Medical Genetics Part A: Volume 191, Issue 12

  Pages: 2793-2920

  December 2023

Previous Issue|Next Issue

Export Citation(s)Download PDF(s)

Export Citations

Format

Plain Text

RIS (ProCite, Reference Manager)

EndNote

BibTex

Medlars

RefWorks

Type of import

Citation file or direct import

Indirect import or copy/paste

Cancel

Next

< Go back

Citation HelpExport

Download PDFs

Cancel

Item limit reached

Download (.zip)

ISSUE INFORMATION

Free Access

free

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

• Pages: 2793-2795
• First Published: 13 November 2023

• PDF
• Request permissions

Free Access

free

Publication schedule for 2023

• Page: 2796
• First Published: 13 November 2023

• PDF
• Request permissions

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

Full Access

full

Neolithic Community Revealed Using Ancient DNA Data

• Pages: 2797-2798
• First Published: 13 November 2023

• Full text
• PDF
• References
• Request permissions

Full Access

full

Sequencing the Y Chromosome

• Pages: 2798-2799
• First Published: 13 November 2023

• Full text
• PDF
• References
• Request permissions

Full Access

full

In This Issue

• Page: 2800
• First Published: 13 November 2023

• Full text
• PDF
• Request permissions

INVITED COMMENTARY

Open Access

oa

The importance of age-specific gene expression

Judith G. Hall, 

• Pages: 2801-2805
• First Published: 17 July 2023

• First Page
• Full text
• PDF
• References
• Request permissions

ORIGINAL ARTICLE

Full Access

full

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

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

• Pages: 2806-2812
• First Published: 19 September 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

CASE REPORTS

Open Access

oa

A 22q13.1 duplication in mosaicism including SOX10

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

• Pages: 2813-2818
• First Published: 02 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2819-2824
• First Published: 02 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2825-2830
• First Published: 07 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2831-2836
• First Published: 08 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2837-2842
• First Published: 09 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2843-2849
• First Published: 11 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2850-2855
• First Published: 12 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2856-2859
• First Published: 14 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2860-2867
• First Published: 17 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Open Access

oa

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

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

• Pages: 2868-2872
• First Published: 17 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2873-2877
• First Published: 25 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2878-2883
• First Published: 25 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

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

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

• Pages: 2884-2889
• First Published: 28 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Open Access

oa

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

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

• Pages: 2890-2897
• First Published: 31 August 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Atlantoaxial instability associated with ALDH18A1 mutation

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

• Pages: 2898-2902
• First Published: 01 September 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Open Access

oa

Are CUL3 variants an underreported cause of congenital heart disease?

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

• Pages: 2903-2907
• First Published: 04 September 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

RESEARCH LETTER

Full Access

full

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

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

• Pages: 2908-2912
• First Published: 07 August 2023

• First Page
• Full text
• PDF
• References
• Request permissions

DISPATCHES FROM BIOTECH

Open Access

oa

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

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

• Pages: 2913-2920
• First Published: 15 September 2023

• Abstract
• Full text
• PDF
• References
• Request permissions

Sign up for email alerts

Enter your email to receive alerts when new articles and issues are published.

Email address*

Please select your location and accept the terms of use.

Country or location*

Open this select menuAfghanistanÅland IslandsAlbaniaAlgeriaAmerican SamoaAndorraAngolaAnguillaAntarcticaAntigua And BarbudaArgentinaArmeniaArubaAustraliaAustriaAzerbaijanBahamasBahrainBangladeshBarbadosBelarusBelgiumBelizeBeninBermudaBhutanBoliviaBonaire, Sint Eustatius And SabaBosnia And HerzegovinaBotswanaBouvet IslandBrazilBritish Indian Ocean TerritoryBrunei DarussalamBulgariaBurkina FasoBurundiCambodiaCameroonCanadaCape VerdeCayman IslandsCentral African RepublicChadChileChinaChristmas IslandCocos (keeling) IslandsColombiaComorosCongoCongo, The Democratic Republic Of TheCook IslandsCosta RicaCôte D'ivoireCroatiaCubaCuraçaoCyprusCzech RepublicDenmarkDjiboutiDominicaDominican RepublicEcuadorEgyptEl SalvadorEquatorial GuineaEritreaEstoniaEthiopiaFalkland Islands (malvinas)Faroe IslandsFijiFinlandFranceFrench GuianaFrench PolynesiaFrench Southern TerritoriesGabonGambiaGeorgiaGermanyGhanaGibraltarGreeceGreenlandGrenadaGuadeloupeGuamGuatemalaGuernseyGuineaGuinea-bissauGuyanaHaitiHeard Island And Mcdonald IslandsHoly See (vatican City State)HondurasHong KongHungaryIcelandIndiaIndonesiaIran, Islamic Republic OfIraqIrelandIsle Of ManIsraelItalyJamaicaJapanJerseyJordanKazakhstanKenyaKiribatiKorea, Democratic People's Republic OfKorea, Republic OfKosovo, Republic OfKuwaitKyrgyzstanLao People's Democratic RepublicLatviaLebanonLesothoLiberiaLibyan Arab JamahiriyaLiechtensteinLithuaniaLuxembourgMacaoMacedonia, The Former Yugoslav Republic OfMadagascarMalawiMalaysiaMaldivesMaliMaltaMarshall IslandsMartiniqueMauritaniaMauritiusMayotteMexicoMicronesia, Federated States OfMoldova, Republic OfMonacoMongoliaMontenegroMontserratMoroccoMozambiqueMyanmarNamibiaNauruNepalNetherlandsNetherlands AntillesNew CaledoniaNew ZealandNicaraguaNigerNigeriaNiueNorfolk IslandNorthern Mariana IslandsNorwayOmanPakistanPalauPalestinian Territory, OccupiedPanamaPapua New GuineaParaguayPeruPhilippinesPitcairnPolandPortugalPuerto RicoQatarReunionRomaniaRussian FederationRwandaSaint BarthélemySaint HelenaSaint Kitts And NevisSaint LuciaSaint MartinSaint Pierre And MiquelonSaint Vincent And The GrenadinesSamoaSan MarinoSao Tome And PrincipeSaudi ArabiaSenegalSerbiaSeychellesSierra LeoneSingaporeSint MaartenSlovakiaSloveniaSolomon IslandsSomaliaSouth AfricaSouth Georgia And The South Sandwich IslandsSouth SudanSpainSri LankaSudanSurinameSvalbard And Jan MayenSwazilandSwedenSwitzerlandSyrian Arab RepublicTaiwanTajikistanTanzania, United Republic OfThailandTimor-lesteTogoTokelauTongaTrinidad And TobagoTunisiaTürkiyeTurkmenistanTurks And Caicos IslandsTuvaluUgandaUkraineUnited Arab EmiratesUnited KingdomUnited StatesUnited States Minor Outlying IslandsUruguayUzbekistanVanuatuVenezuela, Bolivarian Republic OfViet NamVirgin Islands, BritishVirgin Islands, U.s.Wallis And FutunaWestern SaharaYemenZambiaZimbabwe

I consent to Wiley Online Library’s Terms of Use and processing of my personal data as disclosed in Wiley’s Privacy Policy.*I consent to my personal information being transferred outside of the People’s Republic of China as laid out in Wiley’s Privacy Policy.*(Optional) I consent to special offers, newsletter & promotions from Wiley. See Privacy Policy for more details.

Sign up to alerts

Continue

Tools

• Submit an article

• Journal Metrics

• Subscribe to this journal

More from this journal

• Call for Nominations: 2025 John M. Opitz Young Investigator Award
• Winners and Nominees for the 2024 John M. Opitz Young Investigator Award
• Virtual Issue: Cancer in Genetic Syndromes
• Virtual Issue: Robinow Article Series
• Virtual Issue: Sex Chromosome Disorders
• Virtual Issue: Case Reports in Diverse Populations
• Virtual Issue: Elements of Morphology: Standard Terminology
• All Virtual Issues
• CME Credit for Reviewers
• Nosology of genetic skeletal disorders: 2023 revision
• Self-Archiving Policy
• Getting Your Scientific Paper Written & Published When English Is Your Second Language