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Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1378, doi. 10.1002/ajmg.a.63134
By:
- Yassin, Shaden H.;
- Henderson, Riley;
- Lenberg, Jerica;
- Murillo, Viridiana;
- Murdock, David R.;
- Friedman, Jennifer;
- Jones, Marilyn C.;
- Wigby, Kristen;
- Borooah, Shyamanga
Publication type:
Article
ARID2, a rare cause of Coffin‐Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1240, doi. 10.1002/ajmg.a.63139
By:
- Xia, Dan;
- Deng, Shuyun;
- Gao, Chenchen;
- Li, Xiaojuan;
- Zhang, Lina;
- Xiao, Xiaoqin;
- Peng, Xiaofang;
- Zhang, Jieming;
- He, Zhanwen;
- Meng, Zhe;
- Liu, Zulin;
- Ouyang, Nengtai;
- Liang, Liyang
Publication type:
Article
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB‐related developmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1395, doi. 10.1002/ajmg.a.63138
By:
- Gana, Simone;
- Serpieri, Valentina;
- Giorgio, Elisa;
- Iorio, Melanie;
- Rognone, Elisa;
- Pichiecchio, Anna;
- Chiappedi, Matteo;
- Valente, Enza Maria
Publication type:
Article
Prolidase deficiency: A novel PEPD missense variant in exon 2.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1388, doi. 10.1002/ajmg.a.63137
By:
- Ido, Firas;
- Tessier, Steven;
- Yoder, Nicole;
- Ramzy, Joseph;
- Longo, Santo
Publication type:
Article
Time course of serum neuron‐specific enolase levels from infancy to early adulthood in a female patient with beta‐propeller protein‐associated neurodegeneration.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1384, doi. 10.1002/ajmg.a.63135
By:
- Hirano, Shodo;
- Suzuki, Yasuhiro;
- Ikeda, Tae;
- Okamoto, Nobuhiko
Publication type:
Article
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1339, doi. 10.1002/ajmg.a.63181
By:
- Martin‐Giacalone, Bailey A.;
- Lin, Angela E.;
- Rasmussen, Sonja A.;
- Kirby, Russell S.;
- Nestoridi, Eirini;
- Liberman, Rebecca F.;
- Agopian, A. J.;
- Carey, John C.;
- Cragan, Janet D.;
- Forestieri, Nina;
- Leedom, Vinita;
- Boyce, Aubree;
- Nembhard, Wendy N.;
- Piccardi, Monika;
- Sandidge, Theresa;
- Shan, Xiaoyi;
- Shumate, Charles J.;
- Stallings, Erin B.;
- Stevenson, Roger;
- Lupo, Philip J.
Publication type:
Article
Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1434, doi. 10.1002/ajmg.a.63156
By:
- Fan, Elaine M.;
- Vagher, Jennie;
- Meznarich, Jessica A.;
- Ubico, Erin Morales;
- Goteti, Sasidhar;
- Peterson, David;
- Rayes, Ahmad;
- Maese, Luke D.
Publication type:
Article
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1325, doi. 10.1002/ajmg.a.63155
By:
- Shah, Suraj S.;
- Fulton, Anne;
- Jabroun, Mireille;
- Brightman, Diana;
- Simpson, Brittany N.;
- Bodamer, Olaf A.
Publication type:
Article
Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1476, doi. 10.1002/ajmg.a.63154
By:
- Vos, Niels;
- Menke, Leonie A.;
- Mooij, Christiaan F.;
- van den Akker, Erica L. T.;
- Alders, Mariëlle;
- van Haelst, Mieke M.
Publication type:
Article
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1301, doi. 10.1002/ajmg.a.63153
By:
- Boer, Lucas L.;
- Kircher, Susanne Gerit;
- Rehder, Helga;
- Behunova, Jana;
- Winter, Eduard;
- Ringl, Helmut;
- Scharrer, Anke;
- de Boer, Elke;
- Oostra, Roelof‐Jan
Publication type:
Article
Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10‐related neurodevelopmental syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1293, doi. 10.1002/ajmg.a.63152
By:
- Sandomirsky, Katherine;
- Marchi, Elaine;
- Gavin, Maureen;
- Amble, Karen;
- Lyon, Gholson J.
Publication type:
Article
Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1430, doi. 10.1002/ajmg.a.63151
By:
- Ferguson, Richard;
- Scurr, Ingrid;
- Ours, Christopher A.;
- Johnston, Jennifer J.;
- Pike, Katharine;
- Spentzou, Georgia
Publication type:
Article
Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
By:
- Harris, Sarah C.;
- Chong, Karen;
- Chitayat, David;
- Gilmore, Kelly L.;
- Jorge, Alexander A. L.;
- Freire, Bruna L.;
- Lerario, Antonio;
- Shannon, Patrick;
- Cope, Heidi;
- Gallentine, William B.;
- Le Guyader, Gwenal;
- Bilan, Frederic;
- Létard, Pascaline;
- Davis, Erica E.;
- Vora, Neeta L.
Publication type:
Article
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1425, doi. 10.1002/ajmg.a.63149
By:
- Amudhavalli, Shivarajan M.;
- Paolillo, V.;
- Lawson, Caitlin;
- Patterson, Melanie;
- Kussmann, J.;
- Nopper, A. J.;
- Lypka, M.;
- Saunders, Carol
Publication type:
Article
Expanding the reproductive organ phenotype of CHD7‐spectrum disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1418, doi. 10.1002/ajmg.a.63148
By:
- Nomakuchi, Tomoki T.;
- Danowitz, Melinda;
- Stewart, Blythe;
- Leonard, Jacqueline;
- Izumi, Kosuke;
- Krantz, Ian;
- Kolon, Thomas F.;
- Langdon, David;
- Skraban, Cara;
- Van Batavia, Jason;
- Zackai, Elaine;
- Jiao, Kai;
- Linn, Rebecca;
- Alexander, Caitlin;
- Zaontz, Mark;
- Vogiatzi, Maria G.;
- Pyle, Louise C.
Publication type:
Article
Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1145, doi. 10.1002/ajmg.a.63147
By:
- Cruz Marino, Tania;
- Leblanc, Josianne;
- Pratte, Annabelle;
- Tardif, Jessica;
- Thomas, Marie‐Jacqueline;
- Fortin, Carol‐Ann;
- Girard, Lysanne;
- Bouchard, Luigi
Publication type:
Article
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1465, doi. 10.1002/ajmg.a.63146
By:
- Edizadeh, Masoud;
- Kaymakcalan, Hande;
- Valilou, Saeed Farajzadeh;
- Şahin, Yavuz
Publication type:
Article
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1273, doi. 10.1002/ajmg.a.63145
By:
- Zamariolli, M.;
- Dantas, A. G.;
- Nunes, N.;
- Moysés‐Oliveira, M.;
- Sgardioli, I. C.;
- Soares, D. C. Q.;
- Gil‐Da‐Silva‐Lopes, V. L.;
- Kim, C. A.;
- Melaragno, M. I.
Publication type:
Article
Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1412, doi. 10.1002/ajmg.a.63144
By:
- Niehaus, Annie D.;
- Mendelsohn, Bryce A.;
- Zimmerman, Bree;
- Lee, Chung U.;
- Manning, Melanie A.;
- Cusmano‐Ozog, Kristina P.;
- Tise, Christina G.
Publication type:
Article
LYRM7‐associated mitochondrial complex III deficiency with non‐cavitating leukoencephalopathy and stroke‐like episodes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1401, doi. 10.1002/ajmg.a.63143
By:
- Alfattal, Rita;
- Alfarhan, Maryam;
- Algaith, Adeeb M.;
- Albash, Buthaina;
- Elshafie, Reem M.;
- Alshammari, Asma;
- Alahmad, Ahmad;
- Dashti, Fatima;
- Alsafi, Rasha;
- Alsharhan, Hind
Publication type:
Article
TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1261, doi. 10.1002/ajmg.a.63142
By:
- Albokhari, Daniah;
- Pritchard, Amanda Barone;
- Beil, Adelyn;
- Muss, Candace;
- Bupp, Caleb;
- Grange, Dorothy K.;
- Delplancq, Geoffroy;
- Heeley, Jennifer;
- Zuteck, Melissa;
- Morrow, Michelle M.;
- Kuentz, Paul;
- Palculict, Timothy Blake;
- Hoover‐Fong, Julie E.
Publication type:
Article
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1250, doi. 10.1002/ajmg.a.63141
By:
- Mitchell, S. E.;
- Martin, R. P.;
- Terry, P.;
- Drant, S. E.;
- Valle, D.;
- Dietz, H.;
- Sobreira, N.
Publication type:
Article
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1459, doi. 10.1002/ajmg.a.63140
By:
- Moroni, Alice;
- Pezzani, Lidia;
- Alfei, Enrico;
- Scatigno, Agnese;
- Cereda, Anna;
- Marzaroli, Michela;
- Guuva, Claudia;
- Gabbiadini, Sara;
- Pezzoli, Laura;
- Marchetti, Daniela;
- Spaccini, Luigina;
- Iascone, Maria
Publication type:
Article
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1373, doi. 10.1002/ajmg.a.63133
By:
- Santorini, Mélissa;
- Chesneau, Bertrand;
- Koskas‐Boublil, Patricia;
- Metge, Florence;
- Caputo, Georges;
- Chassaing, Nicolas;
- Martin, Gilles;
- Plaisancié, Julie
Publication type:
Article
Nosology of genetic skeletal disorders: 2023 revision.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
By:
- Unger, Sheila;
- Ferreira, Carlos R.;
- Mortier, Geert R.;
- Ali, Houda;
- Bertola, Débora R.;
- Calder, Alistair;
- Cohn, Daniel H.;
- Cormier‐Daire, Valerie;
- Girisha, Katta M.;
- Hall, Christine;
- Krakow, Deborah;
- Makitie, Outi;
- Mundlos, Stefan;
- Nishimura, Gen;
- Robertson, Stephen P.;
- Savarirayan, Ravi;
- Sillence, David;
- Simon, Marleen;
- Sutton, V. Reid;
- Warman, Matthew L.
Publication type:
Article
Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1366, doi. 10.1002/ajmg.a.63131
By:
- Mackay, Laura;
- Gijavanekar, Charul;
- Streff, Haley;
- Price, Jack F.;
- Elsea, Sarah H.;
- Scaglia, Fernando
Publication type:
Article
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1227, doi. 10.1002/ajmg.a.63130
By:
- Strong, Alanna;
- Rao, Soumya;
- von Hardenberg, Sandra;
- Li, Dong;
- Cox, Liza L.;
- Lee, Paul C.;
- Zhang, Li Q.;
- Awotoye, Waheed;
- Diamond, Tamir;
- Gold, Jessica;
- Gooch, Catherine;
- Gowans, Lord Jephthah Joojo;
- Hakonarson, Hakon;
- Hing, Anne;
- Loomes, Kathleen;
- Martin, Nicole;
- Marazita, Mary L.;
- Mononen, Tarja;
- Piccoli, David;
- Pfundt, Rolph
Publication type:
Article
American Society of Human Genetics Releases Apology for Misuse of Genetic Research.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1140, doi. 10.1002/ajmg.a.62805
Publication type:
Article
PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1360, doi. 10.1002/ajmg.a.63129
By:
- Ozcelik, Firat;
- Arslan, Sezai;
- Ozguc Caliskan, Busra;
- Kardas, Fatih;
- Ozkul, Yusuf;
- Dundar, Munis
Publication type:
Article
Tethered cord syndrome in KBG syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1222, doi. 10.1002/ajmg.a.63128
By:
- Hills, Sonia;
- Pugacheva, Alisa;
- Weltin, Patricia;
- Maughan, Annette;
- Morton, Sarah U.;
- Feldman, Henry A.;
- Klinge, Petra M.;
- Agrawal, Pankaj B.
Publication type:
Article
An automatic facial landmarking for children with rare diseases.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
By:
- Hennocq, Quentin;
- Bongibault, Thomas;
- Bizière, Matthieu;
- Delassus, Ombline;
- Douillet, Maxime;
- Cormier‐Daire, Valérie;
- Amiel, Jeanne;
- Lyonnet, Stanislas;
- Marlin, Sandrine;
- Rio, Marlène;
- Picard, Arnaud;
- Khonsari, Roman Hossein;
- Garcelon, Nicolas
Publication type:
Article
Periventricular heterotopia in a male child with USP9X missense variant.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1350, doi. 10.1002/ajmg.a.63123
By:
- De Laurentiis, Arianna;
- Ciaccio, Claudia;
- Erbetta, Alessandra;
- Pinelli, Michele;
- Nigro, Vincenzo;
- Pantaleoni, Chiara;
- D'Arrigo, Stefano
Publication type:
Article
Metabolomics as a Diagnostic Tool.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1141, doi. 10.1002/ajmg.a.62806
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1139, doi. 10.1002/ajmg.a.62804
Publication type:
Article
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1355, doi. 10.1002/ajmg.a.63127
By:
- Kolvenbach, Caroline M.;
- Zheng, Bixia;
- Merz, Lea M.;
- Mertens, Nils D.;
- Mansour, Bshara;
- Wang, Chunyan;
- Seltzsam, Steve;
- Schneider, Sophia;
- Schierbaum, Luca;
- Pantel, Dalia;
- Chen, Jing;
- van der Ven, Amelie T.;
- Bello, Jibril O.;
- Shril, Shirlee;
- Hildebrandt, Friedhelm
Publication type:
Article
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1447, doi. 10.1002/ajmg.a.63124
By:
- Edgerley, Katharine;
- Bryson, Lisa;
- Hanington, Lucy;
- Irving, Rachel;
- Joss, Shelagh;
- Lampe, Anne;
- Maystadt, Isabelle;
- Osio, Deborah;
- Richardson, Ruth;
- Split, Miranda;
- Sansbury, Francis H.;
- Scurr, Ingrid;
- Stewart, Helen;
- McNeil, Alisdair;
- Low, Karen
Publication type:
Article
Table of Contents, Volume 191A, Number 5, May 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1133, doi. 10.1002/ajmg.a.62803
Publication type:
Article
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1442, doi. 10.1002/ajmg.a.63121
By:
- Bolli, Amber;
- Nriagu, Bede;
- Britt, Allison D.;
- Toole, Anjali D.;
- Treat, James;
- Srinivasan, Abhay;
- Sheppard, Sarah E.
Publication type:
Article
Letter to the Editor regarding "Unexplained regression in Down syndrome: Management of 51 patients in an international patient database" by Santoro et al.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1474, doi. 10.1002/ajmg.a.63117
By:
- Palffy, Alexander;
- Ghaziuddin, Neera
Publication type:
Article
Response to Letter to the Editor by Palffy and Ghaziuddin.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
By:
- Santoro, Stephanie L.;
- Baumer, Nicole T.;
- Cornacchia, Michelle;
- Franklin, Catherine;
- Hart, Sarah J.;
- Haugen, Kelsey;
- Hojlo, Margaret A.;
- Horick, Nora;
- Kishnani, Priya S.;
- Krell, Kavita;
- McCormick, Andrew;
- Milliken, Anna L.;
- Oreskovic, Nicolas M.;
- Pawlowski, Katherine G.;
- Sargado, Sabrina;
- Torres, Amy;
- Valentini, Diletta;
- Vellody, Kishore;
- Skotko, Brian G.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1143, doi. 10.1002/ajmg.a.62807
Publication type:
Article

Found: 41