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American Journal of Medical Genetics Part A

IF1.7
Papers265
Citations
Journal Papers 265
Publication Date
Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant
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deleteKavcic, Alja; Avsenik, Jernej; Writzl, Karin; Stavber, Lana; Bertok, Sara; Debeljak, Marusa; Sustar, Natasa; Maver, Ales; Velkavrh, Manca; Salamon, Aneta Soltirovska
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Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic
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deleteTaliercio, Vanina; Wilcox, Annabelle; Cole, Stacey; Daboub, Josue Flores; Moreno, Jose E. Morales; Andrews, Kasey G.; Asaki, S. Yukiko; Pilcher, Thomas A.; Tristani-Firouzi, Martin; Niu, Mary C.; Viskochil, David; Hammond, Benjamin
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Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism
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deleteZechi-Ceide, Roseli Maria; Segarra, Vinicius Contrucci Dantas; Vendramini-Pittoli, Siulan; Serigatto, Henrique Regonaschi; Virmond, Luiza; Palhares, Heloisa Marcelina da Cunha; Jehee, Fernanda; Krepischi, Ana Cristina Victorino; Rosenberg, Carla; Grangeiro, Carlos Henrique Paiva; Kokitsu-Nakata, Nancy Mizue
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CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype
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deleteHarrington, Caitlin N.; Kohl, Emily; Gilitwala, Zainab; Teng, Joyce; Siegel, Dawn H.; Charville, Gregory W.; Steffner, Robert J.; Stevenson, David A.
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The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families
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deleteRasmussen, Carly A.; Izdebski, Monika; Paltzer, Allison; Hickey, Rachel; Pollard, Laura; Baker, Joshua
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High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data
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deleteGeorge, Andrew M.; Duki, Bamelak T.; Katz, Zoe S.; Viswanathan, Aravind; MacFarland, Suzanne P.; Hathaway, Evan R.; Monahan, Caitlin; Morris, John; Trout, Kelly L.; Krantz, Shari M.; Ganguly, Arupa; Kalish, Jennifer M.
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Blaschko-Linear TGM1-nEDD Associated With Mosaic Genome-Wide Uniparental Isodisomy
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deleteLuo, Angela J.; Jiang, Xingyuan; Liu, William; Siegel, Liza; Choate, Keith A.
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35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
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deleteLi, Mindy H.; Coleman, Deziree L.; Hogan, Kelsey; Luz, Danielle; Bhandari, Lindsay; Belnap, Newell; Busa, Tiffany; Coutton, Charles; Dieterich, Klaus; Gorokhova, Svetlana; Hildebrandt, Clara; Logan, Rachel; Mariani, Milena; Morleo, Manuela; Nigro, Vincenzo; Pappas, John; Rabin, Rachel; Schoch, Kelly; Selicorni, Angelo; Shashi, Vandana; Spillmann, Rebecca; Sullivan, Jennifer; Tardy, Charlotte; Vergano, Samantha A. Schrier; Grill, Brock; Baranano, Kristin
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Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review
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deleteCinelli, Giulia; Della Vecchia, Stefania; Bergonzini, Patrizia; Caramaschi, Elisa; Spezia, Elisabetta; Parenti, Claudia; Madeo, Simona Filomena; Lucaccioni, Laura; Francesca, Cavalleri; Pugliese, Marisa; Raviglione, Federico; Colonna, Clara; Calabrese, Olga; Stanghellini, Ilaria; Marongiu, Maria Carmen; Biagioni, Enrico; Ferrari, Anna Rita; Battini, Roberta; Iughetti, Lorenzo
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46th Annual David W. Smith Workshop on Malformations and Morphogenesis
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deleteLipinski, Robert J.; Carey, John C.; Braddock, Stephen R.
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Associations Between Sensory Processing and Irritability in Prader-Willi Syndrome: Beyond Genetic Subtypes and Clinical Backgrounds
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deleteNakane, Erina; Ogata, Hiroyuki; Saima, Sohei; Kondo, Chuichi; Seki, Masaki; Oto, Yuji; Ihara, Hiroshi
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Rate and Type of Surgery and Prevalence of Malignancy in Patients With Ollier's Disease and Maffucci Syndrome
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deleteColello, Michael J.; Myers, Annika Y.; Gasho, Jordan O.; Agulnik, Mark; Kang, Hyunwoo P.; Williams, Nadine L.; Zuckerman, Lee M.
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A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients
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deleteTing, Siew Li; Bassett, John; Meyer, Jonathan; Anderson, Mark; Bowron, Ann; Weber, Astrid; Wu, Teresa H. Y.; Mitchell, Rowena; Robinson, Rachel; Morris, Andrew A. M.; Stepien, Karolina M.
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Vascular Abnormalities in Hypermobile Ehlers-Danlos Syndrome: A Retrospective Cohort Study
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deleteGehin, Thomas; Foy, Malika; Carlier, Robert; Renault, Valentin; Benistan, Karelle
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De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
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deleteNiehaus, Annie D.; Bonner, Devon E.; Carter, Jennefer; Avello, Kayleigh; Jacob, Natalie; Neu, Matthew B.; Mendez, Rodrigo; Qiao, Wanqiong; Scott, Stuart A.; Levy, Rebecca J.; Mattas, Lauren; Schymick, Jennifer; Van Andel, Michael; Muntoni, Francesco; Mueller, Juliane; Sarkozy, Anna; DiTroia, Stephanie; O'Leary, Melanie; Neale, Ashana; O'Donnell-Luria, Anne; Toro, Camilo; Wolfe, Lynne A.; Martinez-Agosto, Julian A.; Montgomery, Stephen B.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Tise, Christina G.
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The Society for Craniofacial Genetics and Developmental Biology 48th Annual Meeting
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deleteArtinger, Kristin B.; Fantauzzo, Katherine A.; Merrill, Amy E.; Taneyhill, Lisa A.; Van Otterloo, Eric; Harris, Matthew P.
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A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient
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deleteAkalin, Akcahan; Oz, Veysel; Pinarbasi, Ayse Seda; Ozalkak, Servan; Karaca, Mehmet Salih; Yildirim, Ruken
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