Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 9

Results: 35

Cover Image, Volume 197A, Number 9, September 2025.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64218
Publication type:: Article

Trigeminal Neuralgia in a 12‐Month‐Old Boy With Dandy‐Walker Malformation and Homozygous Pathogenic TOPORS Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64117

By:

Lob, K. N.;
Brown, W. D.

Publication type:

Article

Clinical and Genetic Landscape of IGHMBP2‐Related Disorders: From Novel Variants to Phenotypic Insights.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64116

By:

Tkemaladze, Tinatin;
Bregvadze, Kakha;
Abashishvili, Luka;
Chikvinidze, Gocha;
Delgado Vega, Angelica Maria;
Akbar, Fizza;
Khan, Sara;
Kirmani, Salman

Publication type:

Article

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64115

By:

Sleiman, Marcelo M.;
Zamir, Talia;
Peshkin, Beth N.;
Hamilton, Jada G.;
Liu, Mingqian;
Yockel, Mary Rose;
Wilfond, Benjamin;
Ross, Lainie Friedman;
Brower, Jamie;
Ovadia, Hannah;
Sacca, Rosalba;
Tarini, Beth;
Domchek, Susan M.;
Isaacs, Claudine;
Tercyak, Kenneth P.

Publication type:

Article

Absence of Neurodevelopmental Impairment in an Individual With KCNN3‐Related Zimmermann Laband Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64113

By:

Esener, Zeynep;
Ünsel‐Bolat, Gül

Publication type:

Article

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64112

By:

Treitel, Ramya;
McLaughlin, Julie;
Frigeni, Marta

Publication type:

Article

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64110

By:

Reinhold, Vivian;
Valtanen, Mikko;
Auranen, Kari;
Syrjänen, Stina;
Peltonen, Sirkku;
Peltonen, Juha;
Kallionpää, Roope A.

Publication type:

Article

Trends in the Prevalence of Down Syndrome (Trisomy 21) in Texas by Maternal Race/Ethnicity and Maternal Age Groups, 1999–2020.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64109

By:

Shumate, Charles;
Allred, Rachel;
Dixon, Ashley;
Betancourt, Dayana;
Yantz, Caitlyn;
Howell, Rebecca;
Gandhi, Henal;
Kilburn, Madeline;
Lupo, Philip J.;
Agopian, A. J.

Publication type:

Article

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64108

By:

Taliercio, V.;
Zhao, J.;
Boyden, S. E.;
Mao, R.;
Bayrak‐Toydemir, P.;
Pflaum, A.;
Palumbos, J.;
Andrews, A.;
Baldwin, E. E.;
Welt, C.;
Fait, Mackenzie;
Botto, L. D.;
Viskochil, D.

Publication type:

Article

Four New Patients of HHAT‐Related Multiple Congenital Anomalies Syndrome (Nivelon‐Nivelon‐Mabille Syndrome) and a Comprehensive Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64107

By:

Arı, Ayşe Burcu Doğan;
Arı, Hasan;
Türkyılmaz, Ayberk;
Teralı, Kerem;
Büyükyılmaz, Gönül;
Erdeve, Şenay Savaş;
Kılıç, Esra

Publication type:

Article

Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64106

By:

Haskell, Gloria T.;
Askree, S. Hussain;
Kline, Laura;
Hasadsri, Linda;
Cabral, Huong;
Gadi, Inder;
Schwartz, Stuart

Publication type:

Article

A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64105

By:

Luke, Noel Deep;
Vijayakrishnan Nair, Aditya;
Sivadasan, Ajith;
Muthusamy, Karthik;
Thomas, Maya Mary;
Yoganathan, Sangeetha;
Aaron, Rekha;
Jasper, Anitha;
Mannam, Pavithra;
Daniel, Roshan;
Danda, Sumita

Publication type:

Article

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64104

By:

Lai, Yvonne Yee Lok;
Downs, Jenny Anne;
Leonard, Helen Margaret;
Walsh, Laurence James;
Zafar, Sobia

Publication type:

Article

Characteristics of Early Language Development in Children With Williams Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64103

By:

Yao, Dan;
Chen, Wei‐jun;
Li, Fang‐fang;
Shen, Ji‐yang;
Ji, Chai

Publication type:

Article

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64102

By:

Ogawa, Eri;
Kosaki, Kenjiro;
Takenouchi, Toshiki

Publication type:

Article

Clinical and Radiological Characterization of TEFM‐Associated Neurological Disorder.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64101

By:

Adarsha, Naik;
Sait, Haseena;
Ravichandran, Deepak

Publication type:

Article

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64100

By:

Maglione, Vittorio;
Pizzuti, Antonio;
Mastromoro, Gioia;
Cresta, Eleonora;
Favata, Paola;
Digilio, Maria Cristina;
Capolino, Rossella;
Dentici, Maria Lisa;
Sinibaldi, Lorenzo;
Novelli, Antonio;
Tartaglia, Marco;
Terrin, Gianluca;
Cardilli, Viviana

Publication type:

Article

Dual Diagnosis of Sifrim–Hitz–Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim–Hitz–Weiss Syndrome and Quick Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64099

By:

Babazade, Ali;
Duzenli, Tarik;
Mermer, Serdar;
Kayhan, Gulsum

Publication type:

Article

A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64098

By:

Olarewaju, Bukola A.;
Tejon, Judy B.;
Abbas, Mohammed Tiseer;
Shen, Joanne F.;
Turkmani, Ali;
Ellingson, Marissa Susan;
Shen, Wei;
Osundiji, Mayowa Azeez

Publication type:

Article

De Novo Splice‐Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal–Hreidarsson Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64097

By:

Braun, Dominique;
Gregor, Anne;
Haubitz, Monika;
Baerlocher, Gabriela M.;
Kraus, Cornelia;
Rieubland, Claudine;
Zweier, Christiane

Publication type:

Article

Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64096

By:

Bottillo, Irene;
De Luca, Chiara;
Cordella, Angela;
Passeri, Marina;
Salvatore, Marco;
Fortugno, Paola;
Leonardi, Silvia;
Dofcaci, Alessandro;
Sciarra, Luigi;
Romano, Silvio;
Musumeci, Maria Beatrice;
Autore, Camillo;
Grammatico, Paola;
Brancati, Francesco

Publication type:

Article

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64095

By:

Urreizti, Roser;
Vissicchio, Jessica;
Idries, Mohamed;
Cozar, Monica;
Rabionet, Raquel;
Donald, Tyhiesia;
Bhoj, Elizabeth J.;
Nomakuchi, Tomoki T.;
Shipley, Shannon C.;
Timms, Andrew E.;
Mirzaa, Ghayda M.;
Serrano, Mercedes;
Sobering, Andrew K.

Publication type:

Article

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64093

By:

Erdogan, Esin Nur;
Cheng, Chi Vicky;
Caraffi, Stefano G.;
Ivanovski, Ivan;
Piatelli, Gianluca;
Errichiello, Edoardo;
Papavasiliou, Antigone S.;
Vasileiou, Georgia;
Reis, André;
Prince, Bradley;
Hickey, Scott E.;
Koboldt, Daniel C.;
Schneider, Michael C.;
Porrmann, Joseph;
Di Donato, Nataliya;
Leis, Thomas;
Perry, M. Scott;
Humberson, Jennifer;
Rotenberg, Joshua;
Bakhtiari, Somayeh

Publication type:

Article

New Phenotypic Features in FGFR1‐Related Osteoglophonic Dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64092

By:

Othman, Amna A.;
Babcock, Holly E.;
Gill, Corey S.;
Fraser, Jamie L.;
Regier, Debra S.;
Kaur, Rajdeep;
Simpson, Kara L.;
Ferreira, Carlos R.

Publication type:

Article

NOTCH3‐Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64091

By:

Woods, Emily;
Jordaan, C.;
Offiah, Amaka C.;
Johnston, J.;
Cole, A. A.;
Fernandes, J. A.;
Johnson, Diana S.

Publication type:

Article

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64088

By:

Shimura, Kazuhiro;
Toki, Machiko;
Tsujioka, Yuko;
Nishimura, Gen;
Ishii, Tomohiro;
Hasegawa, Tomonobu

Publication type:

Article

DHX16‐Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64083

By:

Clay, Sloane;
Leon, Alejandro;
Wall, Luke A.;
Zambrano, Regina M.

Publication type:

Article

Correction to "Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report".

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64082
Publication type:: Article

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64078

By:

Christofolini, Denise M.;
Pinn, Guilherme;
Vilella, Thainá;
Melaragno, Maria I.;
Moysés‐Oliveira, Mariana;
Pompei, Luciano;
Bianco, Bianca;
Barbosa, Caio P.

Publication type:

Article

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64072

By:

Erdogan, Murat;
Unal, Aysel;
Dogan, Muhammet Ensar;
Oguz, Sumeyra;
Balta, Burhan;
Ada, Yasin;
Kiraz, Aslıhan;
Dundar, Munis

Publication type:

Article

Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012).

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.64051

By:

Holmes, Lewis B.;
Nasri, Hamzeh;
Hunt, Anne‐Therese;
Nasri, Hanah Z.

Publication type:

Article

Table of Contents, Volume 197A, Number 9, September 2025.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.63763
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.63761
Publication type:: Article

Fetal Mutations Responsible for 1 in 136 Pregnancy Losses.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.63760
Publication type:: Article

First Patient Successfully Receives Custom Gene Therapy.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 9, p. 1, doi. 10.1002/ajmg.a.63758
Publication type:: Article