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Development of a multidisciplinary clinical approach for unexplained regression in Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2509, doi. 10.1002/ajmg.a.62870
By:
- Stredny, Coral M.;
- Hauptman, Aaron J.;
- Sargado, Sabrina;
- Soccorso, Cara;
- Katz, Tamar;
- Gorman, Mark P.;
- Baumer, Nicole T.
Publication type:
Article
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2493, doi. 10.1002/ajmg.a.62849
By:
- MacDonald, Stella K.;
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Hartley, Taila;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2331, doi. 10.1002/ajmg.a.62866
By:
- Weber, Mathilde;
- Jaber, Dana;
- Encha‐Razavi, Ferechte;
- Julien, Emmanuel;
- Grevoul‐Fesquet, Julie;
- Steffann, Julie;
- Melki, Judith;
- Martinovic, Jelena
Publication type:
Article
A unique cardiovascular presentation of Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2443, doi. 10.1002/ajmg.a.62865
By:
- Otero Luna, Andrea;
- Park, Kaylee B.;
- Schauer, Jenna;
- Castera, Mark;
- Quintana Grijalba, Carolina;
- Chikkabyrappa, Sathish Mallenahalli;
- Tjoeng, Yuen Lie;
- Romberg, Erin K.;
- Olson, Aaron;
- Glass, Ian A.;
- Young, Luciana
Publication type:
Article
Corrigendum DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. Doi:10.1002/ajmg.a.61729.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2512, doi. 10.1002/ajmg.a.62877
Publication type:
Article
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2376, doi. 10.1002/ajmg.a.62874
By:
- Li, Jingjing;
- Yang, Wei;
- Wang, Yuejun Jessie;
- Ma, Chen;
- Curry, Cynthia J.;
- McGoldrick, Daniel;
- Nickerson, Deborah A.;
- Chong, Jessica X.;
- Blue, Elizabeth E.;
- Mullikin, James C.;
- Reefhuis, Jennita;
- Nembhard, Wendy N.;
- Romitti, Paul A.;
- Werler, Martha M.;
- Browne, Marilyn L.;
- Olshan, Andrew F.;
- Finnell, Richard H.;
- Feldkamp, Marcia L.;
- Pangilinan, Faith;
- Almli, Lynn M.
Publication type:
Article
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2466, doi. 10.1002/ajmg.a.62873
By:
- Yagasaki, Hideaki;
- Sano, Fumikazu;
- Narusawa, Hiromune;
- Watanabe, Daisuke;
- Kaga, Yoshimi;
- Kobayashi, Koji;
- Asano, Yoshihiro;
- Nagata, Miho;
- Yonei, Ayumi;
- Inukai, Takeshi
Publication type:
Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
By:
- Penon‐Portmann, Monica;
- Eldomery, Mohammad K.;
- Potocki, Lorraine;
- Marafi, Dana;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Harel, Tamar;
- Grochowski, Christopher M.;
- Loucks, Hailey;
- Devine, Walter Patrick;
- Van Ziffle, Jessica;
- Doherty, Dan;
- Lupski, James R.;
- Shieh, Joseph T.
Publication type:
Article
Functional significance of novel variants of the MEF2C gene promoter in congenital ventricular septal defects.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2397, doi. 10.1002/ajmg.a.62871
By:
- Zeng, Zhi‐Hua;
- Chen, Huan‐Xin;
- Liu, Xiao‐Cheng;
- Yang, Qin;
- He, Guo‐Wei
Publication type:
Article
B‐cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2325, doi. 10.1002/ajmg.a.62864
By:
- Verdoni, Angela M.;
- Zilla, Megan L.;
- Bullock, Grant;
- Guinipero, Terri L.;
- Meade, Julia;
- Yatsenko, Svetlana A.
Publication type:
Article
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2438, doi. 10.1002/ajmg.a.62859
By:
- Geiculescu, Irina;
- Dranove, Jason;
- Cosper, Graham;
- Edmondson, Andrew C.;
- Morava‐Kozicz, Eva;
- Carter, Lauren B.
Publication type:
Article
Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2505, doi. 10.1002/ajmg.a.62862
By:
- Chinton, Josefina;
- Huckstadt, Victoria;
- Foncuberta, Maria Eugenia;
- Perez, Maria Mercedes;
- Bonetto, Mara Cecilia;
- Gravina, Luis Pablo;
- Obregon, María Gabriela
Publication type:
Article
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2434, doi. 10.1002/ajmg.a.62857
By:
- Franceschi, Roberto;
- Iascone, Maria;
- Maitz, Silvia;
- Marchetti, Daniela;
- Mariani, Milena;
- Selicorni, Angelo;
- Soffiati, Massimo;
- Maines, Evelina
Publication type:
Article
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2293, doi. 10.1002/ajmg.a.62854
By:
- Varshney, Karan;
- Iriowen, Rosemary;
- Morrell, Kayla;
- Pillay, Preshon;
- Fossi, Alexander;
- Stephens, Mary M.
Publication type:
Article
Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma‐1 receptor agonist Blarcamesine.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2497, doi. 10.1002/ajmg.a.62853
By:
- Cogram, Patricia;
- Deacon, Robert M. J.;
- Klamer, Daniel;
- Rebowe, Nell;
- Sprouse, Jeffrey;
- Reyes, Samantha T.;
- Missling, Christopher U.;
- Kaufmann, Walter E.
Publication type:
Article
Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2460, doi. 10.1002/ajmg.a.62851
By:
- Alburaiky, Salam;
- Taylor, Juliet;
- O'Grady, Gina;
- Thomson, Glen;
- Perry, David;
- England, Eleina M.;
- Yap, Patrick
Publication type:
Article
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2315, doi. 10.1002/ajmg.a.62846
By:
- Niehaus, Annie D.;
- Rassbach, Caroline E.;
- Stevenson, David A.
Publication type:
Article
Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2413, doi. 10.1002/ajmg.a.62845
By:
- Burns, Rebecca;
- Niendorf, Kristin;
- Steinberg, Kathleen;
- Mueller, Amy;
- Ly, Ina;
- Jordan, Justin T.;
- Plotkin, Scott R.;
- Hicks, Stephanie R.
Publication type:
Article
First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2501, doi. 10.1002/ajmg.a.62844
By:
- Danda, Sumita;
- Datar, Chaitanya;
- Kher, Archana;
- Deshpande, Tanmay;
- Thomas, Maya Mary;
- Oommen, Samuel P.
Publication type:
Article
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2429, doi. 10.1002/ajmg.a.62843
By:
- Reyes Diaz, Jacqueline V.;
- Jin, Yulin;
- Garber, Kathryn;
- Cossen, Kristina M.;
- Li, Yujing;
- Jin, Peng;
- Li, Hong;
- Ham, Jee‐Young Nina
Publication type:
Article
A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2421, doi. 10.1002/ajmg.a.62782
By:
- Vincent, Krista Marie;
- Stavropoulos, Dimitri J.;
- Beaulieu‐Bergeron, Melanie;
- Yang, Chen;
- Jiang, Mary;
- Zuijdwijk, Caroline;
- Dyment, David A.;
- Graham, Gail E.
Publication type:
Article
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations—A study of six unrelated families from India.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2454, doi. 10.1002/ajmg.a.62781
By:
- Vishwanathan, Gurudatta Baraka;
- Srinivasa, Manoj;
- Batrani, Meenakshi;
- Kubba, Asha;
- Ghosh, Suparna;
- Gupta, Divya;
- Jayashankar, Charitha;
- Rai, Abhigna;
- Jangond, Ajith;
- Inamadar, Arun;
- Hiremagalore, Ravi
Publication type:
Article
A 40‐year follow‐up of a patient with Graham–Boyle–Troxell syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2491, doi. 10.1002/ajmg.a.62780
Publication type:
Article
Further phenotypic delineation of Alazami syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778
By:
- Al‐Hinai, Abdulhamid;
- Al‐Hashmi, Samiya;
- Ganesh, Anuradha;
- Al‐Hashmi, Nadia;
- Al‐Saegh, Abeer;
- Al‐Mamari, Watfa;
- Al‐Murshedi, Fathiya;
- Al‐Thihli, Khalid;
- Al‐Kindi, Adila;
- Al‐Maawali, Almundher
Publication type:
Article
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2472, doi. 10.1002/ajmg.a.62777
By:
- Yamada, Mamiko;
- Suzuki, Hisato;
- Miya, Fuyuki;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro
Publication type:
Article
Erratum.
Published in:
2022
Publication type:
Correction Notice
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2389, doi. 10.1002/ajmg.a.62775
By:
- Kaw, Anita;
- Kaw, Kaveeta;
- Hostetler, Ellen M.;
- Beleza‐Meireles, Ana;
- Smith‐Collins, Adam;
- Armstrong, Catherine;
- Scurr, Ingrid;
- Cotts, Timothy;
- Aatre, Rajani;
- Bamshad, Michael J.;
- Earl, Dawn;
- Groner, Abraham;
- Agre, Katherine;
- Raveh, Yehuda;
- Kwartler, Callie S.;
- Milewicz, Dianna M.
Publication type:
Article
A systematic review and meta‐analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2277, doi. 10.1002/ajmg.a.62773
By:
- Crow, Andrew J. D.;
- Janssen, Jennica M.;
- Marshall, Carolina;
- Moffit, Anne;
- Brennan, Laura;
- Kohler, Christian G.;
- Roalf, David R.;
- Moberg, Paul J.
Publication type:
Article
Further evidence supporting the role of DUT gene in diabetes with bone marrow failure syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2406, doi. 10.1002/ajmg.a.62771
By:
- Ghawil, Millad;
- Abdulrahman, Fathia;
- Hadeed, Ibtisam;
- Doggah, Milad;
- Zarroug, Salem;
- Habeb, Abdelhadi
Publication type:
Article
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2367, doi. 10.1002/ajmg.a.62769
By:
- Kahraman, Ayca Burcu;
- Simsek‐Kiper, Pelin Ozlem;
- Utine, Gulen Eda;
- Boduroglu, Koray
Publication type:
Article
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2339, doi. 10.1002/ajmg.a.62768
By:
- Mishra, Ranjana;
- Kulshreshtha, Samarth;
- Mandal, Kausik;
- Khurana, Ashok;
- Diego‐Álvarez, Dan;
- Pradas, Laura;
- Saxena, Renu;
- Phadke, Shubha;
- Moirangthem, Amita;
- Masih, Suzena;
- Sud, Seema;
- Verma, Ishwar Chander;
- Dua Puri, Ratna
Publication type:
Article
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2479, doi. 10.1002/ajmg.a.62765
By:
- Kortbawi, Hannah;
- Ames, Elizabeth;
- Pritchard, Amanda;
- Devine, Patrick;
- van Ziffle, Jessica;
- Slavotinek, Anne
Publication type:
Article
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763
By:
- Mastromoro, Gioia;
- Calcagni, Giulio;
- Vignaroli, Walter;
- Anaclerio, Silvia;
- Pugnaloni, Flaminia;
- Rinelli, Gabriele;
- Secinaro, Aurelio;
- Bordonaro, Veronica;
- Putotto, Carolina;
- Unolt, Marta;
- Digilio, Maria Cristina;
- Marino, Bruno;
- Versacci, Paolo
Publication type:
Article
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2448, doi. 10.1002/ajmg.a.62762
By:
- Abdalla, Ebtesam;
- Alawi, Malik;
- Meinecke, Peter;
- Kutsche, Kerstin;
- Harms, Frederike L.
Publication type:
Article
A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2303, doi. 10.1002/ajmg.a.62759
By:
- Rashkin, Sara R.;
- Cleves, Mario;
- Shaw, Gary M.;
- Nembhard, Wendy N.;
- Nestoridi, Eirini;
- Jenkins, Mary M.;
- Romitti, Paul A.;
- Lou, Xiang‐Yang;
- Browne, Marilyn L.;
- Mitchell, Laura E.;
- Olshan, Andrew F.;
- Lomangino, Kevin;
- Bhattacharyya, Sudeepa;
- Witte, John S.;
- Hobbs, Charlotte A.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2276, doi. 10.1002/ajmg.a.62311
Publication type:
Article
Remembering Norio Niikawa, MD, PHD.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2274, doi. 10.1002/ajmg.a.62310
Publication type:
Article
In Memoriam: Norio Niikawa, MD, PHD (1942–2022).
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2273, doi. 10.1002/ajmg.a.62309
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2272, doi. 10.1002/ajmg.a.62308
Publication type:
Article
Table of Contents, Volume 188A, Number 8 August 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2267, doi. 10.1002/ajmg.a.62307
Publication type:
Article

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