Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 4

Results: 35

Table of Contents, Volume 194A, Number 4, April 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
Genetics of 21‐hydroxylase deficiency: Clinical presentation should guide the investigation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63513
By:
- Ilany, Jacob
Publication type:
Article
Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in IQ.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63511
By:
- Holmes, Lewis B.;
- Hunt, Anne‐Therese;
- Will, Leslie A.;
- Dhillon, Ruby;
- Deutsch, Curtis;
- Adams, Jane
Publication type:
Article
Letter to the Editor regarding "New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63507
By:
- Duzenli, Tarik;
- Sezer, Abdullah;
- Percin, Ferda Emriye
Publication type:
Article
Recognizing the importance of adequate follow‐up for hearing impairment in trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63506
By:
- Kitaoka, Hiroki;
- Shitara, Yoshihiko;
- Ito, Atsushi;
- Kashima, Kohei;
- Kato, Motohiro;
- Takahashi, Naoto
Publication type:
Article
Genetic counselors' utilization of ChatGPT in professional practice: A cross‐sectional study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63493
By:
- Ahimaz, Priyanka;
- Bergner, Amanda L.;
- Florido, Michelle E.;
- Harkavy, Nina;
- Bhattacharyya, Sriya
Publication type:
Article
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution‐based retrospective study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63492
By:
- Sato, Ririko;
- Yoshimura, Hidekane;
- Kosho, Tomoki;
- Takumi, Yutaka
Publication type:
Article
A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63503
By:
- Goldfarb Yaacobi, Racheli;
- Sukenik Halevy, Rivka
Publication type:
Article
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63491
By:
- Bai, Ting;
- Shen, Ying;
- Yang, Yanting;
- Dai, Siyu;
- Liu, Hongqian
Publication type:
Article
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63498
By:
- Altassan, Ruqaiah;
- AlQudairy, Hanan;
- AlJebreen, Sarah;
- AlMuhaizea, Mohammed;
- Al‐Hindi, Hindi;
- Pena‐Guerra, Karla A.;
- Ghebeh, Hazem;
- Almzroua, Amer;
- Albakheet, Albandary;
- AlDosary, Mazhor;
- Colak, Dilek;
- Arold, Stefan T.;
- Kaya, Namik
Publication type:
Article
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63495
By:
- Huang, Sarah D.;
- Bamba, Vaneeta;
- Bothwell, Samantha;
- Fechner, Patricia Y.;
- Furniss, Anna;
- Ikomi, Chijioke;
- Nahata, Leena;
- Nokoff, Natalie J.;
- Pyle, Laura;
- Seyoum, Helina;
- Davis, Shanlee M.
Publication type:
Article
Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63502
By:
- Freiman, Andrew;
- Rekab, Aisha;
- Bergner, Amanda L.;
- Pereira, Elaine M.;
- Lin, Yuhuan;
- Ahimaz, Priyanka
Publication type:
Article
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63501
By:
- Jelin, Angie C.;
- Wohler, Elizabeth;
- Martin, Renan;
- Di Carlo, Heather;
- Isaacs, William;
- Ko, Joan;
- Michaud, Jason;
- Blakemore, Karin;
- Valle, David;
- Sobreira, Nara;
- Gearhart, John
Publication type:
Article
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63500
By:
- Stanley, Helen M.;
- White, Brian R.;
- LaRosa, Christopher J.;
- Cocalis, Mark W.;
- Gaynor, J. William;
- Strong, Alanna;
- Gangaram, Balram
Publication type:
Article
A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63490
By:
- Malik, Shahzara;
- Jeanpierre, Latoya;
- Cianferoni, Antonella;
- Ruffner, Melanie;
- Sullivan, Kathleen E.
Publication type:
Article
Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63489
By:
- Scott, William;
- Wong, Ian Guo Yi;
- Cramer, Jesse;
- Horton, Darlene;
- Basel, Donald;
- Teng, Ru‐Jeng;
- Muriello, Michael;
- Elkadri, Abdul
Publication type:
Article
Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63488
By:
- Harris, Susan R.
Publication type:
Article
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63481
By:
- Zoullas, Sofia;
- Morel, Dayna;
- Zafeer, Faraz;
- Borjas‐Mendoza, Paulo;
- Angeli, Simon;
- Zhou, Yi;
- Bademci, Guney;
- Tekin, Mustafa
Publication type:
Article
Ophthalmic manifestations of Czech dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63480
By:
- Soh, Zack;
- Martin, Howard;
- Richards, Allan J.;
- Suri, Mohnish;
- Snead, Martin P.
Publication type:
Article
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63485
By:
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Liang, Yijing;
- Davila, Jorge;
- Couse, Madeline;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63484
By:
- AlSabah, Al‐Alya;
- Alsalmi, Mohammed;
- Massie, Rami;
- Bilodeau, Marie‐Claude;
- Campeau, Philippe M.;
- McGraw, Serge;
- D'Agostino, Maria Daniela
Publication type:
Article
Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63483
By:
- Schildt, Alison;
- Stevenson, David A.;
- Yu, Linbo;
- Anguiano, Beatriz;
- Suarez, Carlos J.
Publication type:
Article
Refining the activities of genetic assistants: Development of task statements applicable across practice settings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63487
By:
- Tohms, Ashley;
- Krutish, Angela;
- Hartley, Jessica N.
Publication type:
Article
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63486
By:
- Karla, Aamuktha R.;
- Pinard, Amélie;
- Boerio, Maura L.;
- Hemelsoet, Dimitri;
- Tavernier, Simon J.;
- De Pauw, Michel;
- Vereecke, Elke;
- Fraser, Stuart;
- Bamshad, Michael J.;
- Guo, Dongchuan;
- Callewaert, Bert;
- Milewicz, Dianna M.
Publication type:
Article
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
By:
- Quilichini, Juliette;
- Perol, Sandrine;
- Cuisset, Laurence;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Barbot, Jean Claude;
- Verebi, Camille;
- Jordan, Pénélope;
- Héron, Delphine;
- Molina‐Gomes, Denise;
- Pipiras, Eva;
- Grynberg, Michael;
- Catteau‐Jonard, Sophie;
- Touraine, Philippe;
- Christin‐Maître, Sophie;
- Plu‐Bureau, Geneviève;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63478
By:
- Salokivi, Tommi;
- Parkkola, Riitta;
- Rajendran, Yasmin;
- Bharadwaj, Thashi;
- Acharya, Anushree;
- Leal, Suzanne M.;
- Järvelä, Irma;
- Arvio, Maria;
- Schrauwen, Isabelle
Publication type:
Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
By:
- Pierpont, Elizabeth I.;
- Bennett, Anton M.;
- Schoyer, Lisa;
- Stronach, Beth;
- Anschutz, April;
- Borrie, Sarah C.;
- Briggs, Benjamin;
- Burkitt‐Wright, Emma;
- Castel, Pau;
- Cirstea, Ion C.;
- Draaisma, Fieke;
- Ellis, Michelle;
- Fear, Vanessa S.;
- Frone, Megan N.;
- Flex, Elisabetta;
- Gelb, Bruce D.;
- Green, Tamar;
- Gripp, Karen W.;
- Khoshkhoo, Sattar;
- Kieran, Mark W.
Publication type:
Article
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
By:
- Jedraszak, Guillaume;
- Jobic, Florence;
- Receveur, Aline;
- Bilan, Frédéric;
- Gilbert‐Dussardier, Brigitte;
- Tiffany, Busa;
- Missirian, Chantal;
- Willems, Marjolaine;
- Odent, Sylvie;
- Lucas, Josette;
- Dubourg, Christele;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Lespinasse, James;
- Goldenberg, Alice;
- Guerrot, Anne‐Marie;
- Joly‐Helas, Géraldine;
- Chambon, Pascal;
- Le Caignec, Cédric;
- David, Albert
Publication type:
Article
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63473
By:
- Carter, Drake C.;
- Kierzkowska, Ola;
- Sarino, Kathleen;
- Guo, Lily;
- Marchi, Elaine;
- Lyon, Gholson J.
Publication type:
Article
"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63470
By:
- Luermans, Jacintha;
- Fleming, Jane;
- O'Shea, Rosie;
- Barlow‐Stewart, Kristine;
- Palmer, Elizabeth Emma;
- Leffler, Melanie
Publication type:
Article
The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63460
By:
- Chen, Ziwei;
- You, Qing;
- Wang, Junqi;
- Dong, Zhiya;
- Wang, Wei;
- Yang, Yuanyan;
- Ma, Xiaoyu;
- Li, Chuanyin;
- Lu, Wenli
Publication type:
Article
Table of Contents, Volume 194A, Number 4, April 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63266
Publication type:
Article
First Gene Therapies Approved for Sickle Cell Disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63264
Publication type:
Article
Three Genes Associated with Neurodevelopmental Disorders Identified.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63265
Publication type:
Article