Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 2

Results: 34

Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63908
By:
- Lu, Stevin;
- Starr, Lois J.;
- Taylor, Rachel A.;
- Yetman, Anji T.
Publication type:
Article
KBG Syndrome in 16 Indian Individuals.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63907
By:
- Bajaj, Shruti;
- Nampoothiri, Sheela;
- Chugh, Roshni;
- Sheth, Jayesh;
- Sheth, Frenny;
- Sheth, Harsh;
- Narayan, Vinu;
- Deshpande, Ameya;
- Hegde, Anaita;
- Dwivedi, Aradhana;
- Yeshodharan, Dhanya;
- Khosla, Indu;
- Mittal, Madhukar;
- Kore, Mahesh;
- Ramprasad, Vedam;
- C., Anbu Kayalvizhi;
- Girisha, Katta M.
Publication type:
Article
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63904
By:
- Borja, Nicholas A.;
- Tinker, Rory J.;
- Bivona, Stephanie A.;
- Smith, Carson A.;
- Locker, Theodore Krijnse;
- Fernandes, Samuela;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim
Publication type:
Article
KIF11 Variants Associated With Novel Renal System Involvement—Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63903
By:
- Gonzalez, Tessa;
- Tyler, Rebecca C.;
- Schilter, Kala F.;
- McCarrier, Julie;
- Muriello, Michael;
- Basel, Donald;
- Reddi, Honey V.
Publication type:
Article
An Unusual Presentation of Leber Hereditary Optic Neuropathy‐Plus Case Caused by a Novel DNAJC30 Variant.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63902
By:
- Şenol, Hüseyin Bahadır;
- Soydemir, Didem;
- Polat, Ayşe İpek;
- Aydın, Adem;
- Hız, Ayşe Semra;
- Yiş, Uluç
Publication type:
Article
A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63901
By:
- Frattini, Annalisa;
- Micheloni, Giovanni;
- Musio, Antonio;
- Antunes, Marika Bini;
- Barbot, José;
- Costa, Emília;
- Seabra, Patricia;
- Righi, Rossana;
- Orsini, Francesco;
- Montalbano, Giuseppe;
- Acquati, Francesco;
- Porta, Giovanni;
- Pasquali, Francesco;
- Valli, Roberto
Publication type:
Article
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63900
By:
- Al‐Amrani, Fatema;
- Ruiter, Jos P. N.;
- Doolaard, Mirjam;
- Kumar, Alok;
- Ferdinandusse, Sacha;
- Al‐Thihli, Khalid
Publication type:
Article
Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63897
By:
- Agaoglu, Nihat Bugra;
- Ng, Ozden Hatirnaz;
- Zemheri, Itir Ebru;
- Unal, Busra;
- Gerenli, Nelgin;
- Tosun, Ilkay;
- Yazıcı, Hulya;
- Ozbek, Ugur;
- Kamihara, Junne;
- Rana, Huma Q.
Publication type:
Article
Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63896
By:
- Sarino, Kathleen P.;
- Guo, Lily;
- Yi, Edward;
- Park, Jiyeon;
- Kierzkowska, Ola;
- Carter, Drake;
- Marchi, Elaine;
- Lyon, Gholson J.
Publication type:
Article
Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63895
By:
- Zampini, Laura;
- Lorini, Alessandra;
- Zanchi, Paola;
- Scionti, Nicoletta;
- Silibello, Gaia;
- Dall'Ara, Francesca;
- Ajmone, Paola Francesca;
- Monti, Federico;
- Costantino, Maria Antonella;
- Vizziello, Paola Giovanna
Publication type:
Article
Evidence That Long‐Term Treatment Prevents Tissue Oxidative Damage in Patients With Inherited Disorders of the Propionate Pathway.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63893
By:
- dos Reis, Bianca Gomes;
- Becker, Graziela Schmitt;
- Marchetti, Desiree Padilha;
- Coelho, Daniella de Moura;
- Sitta, Angela;
- Wajner, Moacir;
- Vargas, Carmen Regla
Publication type:
Article
Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63892
By:
- Yeole, Mayuri;
- Majethia, Purvi;
- Siddiqui, Shahyan;
- Girisha, Katta Mohan;
- Shukla, Anju;
- Radhakrishnan, Periyasamy;
- Bhat, Vivekananda
Publication type:
Article
Case Report of Friedreich's Ataxia and ALG1‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63890
By:
- Quinlan, Aisling;
- Rodan, Lance;
- Barkoudah, Elizabeth;
- Tam, Amy;
- Saffari, Afshin;
- Shammas, Ibrahim;
- Ranatunga, Wasantha;
- Morava‐Kozicz, Eva;
- Oglesbee, Devin;
- Berry, Gerald;
- Ebrahimi‐Fakhari, Darius;
- Srivastava, Siddharth
Publication type:
Article
Examining Roles, Challenges, and Opportunities Within the Metabolic Genetics Workforce.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63889
By:
- Simpson, Kara;
- Offord, Stephanie;
- Suares, Chanel;
- Vockley, Jerry
Publication type:
Article
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63888
By:
- Gimeno, Alex F.;
- Tinker, Rory J.;
- Furuta, Yutaka;
- Phillips, John A.
Publication type:
Article
Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register‐Based Analysis.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63887
By:
- Reinhold, Vivian;
- Kallionpää, Roope A.;
- Valtanen, Mikko;
- Auranen, Kari;
- Syrjänen, Stina;
- Peltonen, Sirkku;
- Peltonen, Juha
Publication type:
Article
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63886
By:
- Del Viso, Florencia;
- Zhou, Dihong;
- Starling, Susan;
- Fleming, Emily;
- Saunders, Carol
Publication type:
Article
Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63885
By:
- Afseth, Cassandra;
- Knutsen, Josh;
- Lamborn, Thomas;
- Vucko, Erika;
- Havens, Kirsten;
- Shim, Soo;
- Baker, Joshua
Publication type:
Article
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63884
By:
- Kanai, Yu;
- Takahashi, Hironori;
- Hasegawa, Fuyuki;
- Hori, Asuka;
- Suzuki, Hisato;
- Takahashi, Shoko;
- Fukushima, Hiroko;
- Takada, Hidetoshi;
- Horie, Kenji;
- Ozawa, Katsunori;
- Furukawa, Rieko;
- Kosaki, Kenjiro;
- Hata, Kenichiro
Publication type:
Article
Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63883
By:
- Andreoti, Themis‐Areti A.;
- Maiolo, Massimo;
- Tuleja, Aleksandra;
- Döring, Yvonne;
- Schaller, André;
- Vassella, Erik;
- Boon, Laurence M.;
- Baumgartner, Iris;
- Bernhard, Sarah M.;
- Zweier, Christiane;
- Vikkula, Miikka;
- Rössler, Jochen
Publication type:
Article
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63870
By:
- van Ommeren, Babeth;
- Hoekstra, Maud;
- van Gassen, Koen;
- van Jaarsveld, Richard;
- van Haaften, Gijs;
- Mathijssen, Irene;
- Dammers, Ruben;
- van Veelen, Marie‐Lise;
- Baars, Rolanda;
- Giltay, Jacques C.
Publication type:
Article
Germline RTEL1 Variants in Telomere Biology Disorders.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63882
By:
- Thompson, Ashley S.;
- Niewisch, Marena R.;
- Giri, Neelam;
- McReynolds, Lisa J.;
- Savage, Sharon A.
Publication type:
Article
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63880
By:
- Beaman, M. Makenzie;
- Yin, Weining;
- Smith, Amanda J.;
- Sears, Patrick R.;
- Leigh, Margaret W.;
- Ferkol, Thomas W.;
- Kearney, Brendan;
- Olivier, Kenneth N.;
- Kimple, Adam J.;
- Clarke, Shannon;
- Huggins, Erin;
- Nading, Erica;
- Jung, Seung‐Hye;
- Iyengar, Apoorva K.;
- Zou, Xue;
- Dang, Hong;
- Barrera, Alejandro;
- Majoros, William H.;
- Rehder, Catherine W.;
- Reddy, Timothy E.
Publication type:
Article
Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63878
By:
- Young, Cameron C.;
- Enichen, Ellie;
- Rivera, Christian;
- Auger, Corinne A.;
- Grant, Nathan;
- Rao, Arya;
- Succi, Marc D.
Publication type:
Article
Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63875
By:
- Selvaraman, Aishwarya;
- Rahhal, Samar;
- Bianconi, Simona;
- Furnary, Tristan;
- Porter, Forbes D.
Publication type:
Article
Associated Anomalies in Radial Ray Deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63874
By:
- Stoll, Claude;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63881
By:
- Hassaan, Hebatallah M;
- Pyle, Angela;
- Almenabawy, Nihal;
- Robertson, Fiona M;
- Elkhateeb, Nour;
- Girgis, Marian Y;
- Mahmoud, Iman Gamal El Din;
- Amer, Fawzia;
- Samaha, Mona;
- Shaheen, Yara;
- ElNaggar, Walaa;
- Abdoh, Doaa;
- Mehaney, Dina Ahmed;
- Meguid, Iman Ehsan Abdel;
- Taylor, Robert W;
- McFarland, Robert;
- Selim, Laila
Publication type:
Article
First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63867
By:
- Barnett, Chloe;
- Eddy, Kaitlyn;
- Rauk, Phillip N.;
- Lewter, Jill
Publication type:
Article
Diagnosis of TET3‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63864
By:
- Man, Alice;
- Di Scipio, Matteo;
- McConkey, Haley;
- Hough, Rebecca;
- Stein, Nina;
- Diehl, Eric;
- Marshall, Christian R.;
- Sadikovic, Bekim;
- Ejaz, Resham
Publication type:
Article
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63856
By:
- Hau, Anna;
- Baxter, Anne;
- Chandler, Kate;
- Fennell, Andrew;
- Hsieh, Tzung‐Chien;
- Krawitz, Peter M.;
- Pinner, Jason;
- Goel, Himanshu
Publication type:
Article
Table of Contents, Volume 197A, Number 2, February 2025.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63735
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63734
Publication type:
Article
In Memoriam: Vazken M. Der Kaloustian.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63733
Publication type:
Article
Mislocalization is a Common Consequence of Coding Variation.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63732
Publication type:
Article