Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 8

Results: 36

Cover Image, Volume 191A, Number 8, August 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. i, doi. 10.1002/ajmg.a.63357
Publication type:
Article
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2175, doi. 10.1002/ajmg.a.63330
By:
- Pande, Shruti;
- Mascarenhas, Selinda;
- Venkatraman, Aishwarya;
- Bhat, Vivekananda;
- Narayanan, Dhanya Lakshmi;
- Siddiqui, Shahyan;
- Bielas, Stephanie;
- Girisha, Katta Mohan;
- Shukla, Anju
Publication type:
Article
Updated consensus guidelines on the management of Phelan–McDermid syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
By:
- Srivastava, Siddharth;
- Sahin, Mustafa;
- Buxbaum, Joseph D.;
- Berry‐Kravis, Elizabeth;
- Soorya, Latha Valluripalli;
- Thurm, Audrey;
- Bernstein, Jonathan A.;
- Asante‐Otoo, Afua;
- Bennett, William E.;
- Betancur, Catalina;
- Brickhouse, Tegwyn H.;
- Passos Bueno, Maria Rita;
- Chopra, Maya;
- Christensen, Celanie K.;
- Cully, Jennifer L.;
- Dies, Kira;
- Friedman, Kate;
- Gummere, Brittany;
- Holder, J. Lloyd;
- Jimenez‐Gomez, Andres
Publication type:
Article
Correspondence: Perspectives on the future of dysmorphology.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2252, doi. 10.1002/ajmg.a.63305
By:
- Li, Chumei
Publication type:
Article
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1).
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2164, doi. 10.1002/ajmg.a.63304
By:
- Sangadala, Sreedhara;
- Shore, Eileen M.;
- Xu, Meiqi;
- Bergwitz, Clemens;
- Lozano‐Calderon, Santiago A.;
- Lin, Angela E.;
- Boden, Scott D.;
- Kaplan, Frederick S.
Publication type:
Article
TOPORS as a novel causal gene for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303
By:
- Strong, Alanna;
- Qu, Hui‐Qi;
- Cullina, Sinéad;
- McManus, Morgan L.;
- Zackai, Elaine H.;
- Glessner, Joseph;
- Kenny, Eimear E.;
- Hakonarson, Hakon
Publication type:
Article
Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2149, doi. 10.1002/ajmg.a.63302
By:
- Regan‐Fendt, Kelly E.;
- Rippert, Alyssa L.;
- Medne, Livija;
- Skraban, Cara M.;
- DeJesse, Jeshua;
- Gray, Christopher;
- Reichert, Sara L.;
- Staropoli, Nicholas P.;
- Santos, Francis Jeshira Reynoso;
- Krantz, Ian D.;
- Murrell, Jill R.;
- Izumi, Kosuke
Publication type:
Article
ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2142, doi. 10.1002/ajmg.a.63301
By:
- Alkuraya, Imen F.
Publication type:
Article
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2232, doi. 10.1002/ajmg.a.63300
By:
- Duzenli, Tarik;
- Sezer, Abdullah;
- Kayhan, Gulsum;
- Arslan, Ayse Tana;
- Percin, Ferda E.
Publication type:
Article
Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami‐Ogata syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2225, doi. 10.1002/ajmg.a.63251
By:
- Sirera Sirera, Paula;
- García‐Payá, Elena;
- Olivas García, Julia;
- Jadraque Rodríguez, Rocío;
- Hernández Romero, Sofía Daniela
Publication type:
Article
Healthcare experiences of patients with Down syndrome from primarily Spanish‐speaking households.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2132, doi. 10.1002/ajmg.a.63250
By:
- Chung, Jeanhee;
- Krell, Kavita;
- Pless, Albert;
- Michael, Carie;
- Torres, Amy;
- Baker, Sandra;
- Blake, Jasmine M.;
- Caughman, Kelli;
- Cullen, Sarah;
- Gallagher, Maureen;
- Hoke‐Chandler, Roxanne;
- Maina, Julius;
- McLuckie, Diana;
- O'Neill, Kate;
- Peña, Angeles;
- Royal, Dina;
- Slape, Michelle;
- Spinazzi, Noemi Alice;
- Torres, Carlos G.;
- Skotko, Brian G.
Publication type:
Article
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2219, doi. 10.1002/ajmg.a.63249
By:
- Sage, Adam P.;
- Lee, Hyun Kyung;
- Dalmann, Joshua;
- Lin, Susan;
- Samra, Simran;
- Salman, Areesha;
- Del Bel, Kate L.;
- Li, Wenhui Laura;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.;
- Richmond, Phillip A.
Publication type:
Article
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2113, doi. 10.1002/ajmg.a.63247
By:
- Kaur, Maninder;
- Blair, Justin;
- Devkota, Batsal;
- Fortunato, Sierra;
- Clark, Dinah;
- Lawrence, Audrey;
- Kim, Jiwoo;
- Do, Wonwook;
- Semeo, Benjamin;
- Katz, Olivia;
- Mehta, Devanshi;
- Yamamoto, Nobuko;
- Schindler, Emma;
- Al Rawi, Zayd;
- Wallace, Nina;
- Wilde, Jonathan J.;
- McCallum, Jennifer;
- Liu, Jinglan;
- Xu, Dongbin;
- Jackson, Marie
Publication type:
Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246
By:
- Otaify, Ghada A.;
- Elhossini, Rasha M.;
- Abdel‐Ghafar, Sherif F.;
- Sayed, Inas M.;
- Abdel‐Salam, Ghada M. H.;
- Aglan, Mona S.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
PHACES‐like syndrome with TMEM260 compound heterozygous variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2215, doi. 10.1002/ajmg.a.63245
By:
- Kuroda, Yukiko;
- Saito, Yoko;
- Enomoto, Yumi;
- Naruto, Takuya;
- Mitsui, Jun;
- Kurosawa, Kenji
Publication type:
Article
Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2209, doi. 10.1002/ajmg.a.63244
By:
- Kose, Canan Ceylan;
- Kaya, Derya;
- Akcan, Mehmet Berkay;
- Silan, Fatma
Publication type:
Article
Global health measures from a National Down Syndrome Registry.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2092, doi. 10.1002/ajmg.a.63243
By:
- Santoro, Stephanie L.;
- Haugen, Kelsey;
- Donelan, Karen;
- Skotko, Brian G.
Publication type:
Article
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2204, doi. 10.1002/ajmg.a.63242
By:
- Fernandes, André Aires;
- Grangeia, Ana;
- Dias, Leonor;
- Guimarães, Joana
Publication type:
Article
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2083, doi. 10.1002/ajmg.a.63241
By:
- Schneider, Sophia;
- Schierbaum, Luca;
- Burger, Wessel A. C.;
- Seltzsam, Steve;
- Wang, Chunyan;
- Zheng, Bixia;
- Wu, Chen‐Han Wilfred;
- Nakayama, Makiko;
- Connaughton, Dervla M.;
- Mann, Nina;
- Shalaby, Mohamed A.;
- Kari, Jameela A.;
- ElDesoky, Sherif;
- Tasic, Velibor;
- Eid, Loai A.;
- Shril, Shirlee;
- Thal, David M.;
- Hildebrandt, Friedhelm
Publication type:
Article
A very mild phenotype in six individuals of a three‐generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS‐related RASopathy distinct from Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2074, doi. 10.1002/ajmg.a.63240
By:
- Frey, Tanja;
- Ivanovski, Ivan;
- Bahr, Angela;
- Zweier, Markus;
- Laube, Julia;
- Luchsinger, Isabelle;
- Steindl, Katharina;
- Rauch, Anita
Publication type:
Article
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2198, doi. 10.1002/ajmg.a.63239
By:
- Okoye, Onochie;
- Capasso, Jenina;
- Kopinsky, Sarina M.;
- Amlie‐Wolf, Louise;
- Levin, Alex V.;
- Schneider, Adele
Publication type:
Article
Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2193, doi. 10.1002/ajmg.a.63238
By:
- Zhang, Yuxin;
- Yan, Lulu;
- Xie, Min;
- Xue, Jiangyang;
- Yang, Xumian;
- Xue, Yongming;
- Tian, Liyun;
- Li, Haibo
Publication type:
Article
Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2188, doi. 10.1002/ajmg.a.63237
By:
- Kovesi, Thomas;
- Rojas, Samantha K.;
- Boycott, Kym M.
Publication type:
Article
Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2064, doi. 10.1002/ajmg.a.63236
By:
- Chomette, L.;
- Hupkens, E.;
- Romitti, M.;
- Dewachter, L.;
- Vachiéry, J. L.;
- Bailly, S.;
- Costagliola, S.;
- Smits, G.;
- Tillet, E.;
- Bondue, Antoine
Publication type:
Article
Correction to "The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease".
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2254, doi. 10.1002/ajmg.a.63235
Publication type:
Article
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2057, doi. 10.1002/ajmg.a.63234
By:
- Galarreta, Carolina I.;
- Wong, Karen;
- Carmichael, Jason;
- Woods, Jeremy;
- Tise, Christina G.;
- Niehaus, Annie D.;
- Schildt, Alison J.;
- Verscaj, Courtney P.;
- Cusmano‐Ozog, Kristina P.
Publication type:
Article
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2045, doi. 10.1002/ajmg.a.63233
By:
- Santoro, Stephanie L.;
- Baker, Sandra;
- Blake, Jasmine M.;
- Cabrera, Maria J.;
- Caughman, Kelli;
- Chung, Jeanhee;
- Cullen, Sarah;
- Gallagher, Maureen;
- Haugen, Kelsey;
- Hoke‐Chandler, Roxanne;
- Krell, Kavita;
- Maina, Julius;
- McLuckie, Diana;
- Merker, Vanessa L.;
- Michael, Carie;
- O'Neill, Kate;
- Peña, Angeles;
- Pless, Albert;
- Royal, Dina;
- Slape, Michelle
Publication type:
Article
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2181, doi. 10.1002/ajmg.a.63232
By:
- Moller‐Hansen, Ashley;
- Hejla, Duha;
- Lee, Hyun Kyung;
- Lyles, Jenea Barbara;
- Yang, Yunhan;
- Chen, Kun;
- Li, Wenhui Laura;
- Thomas, Gary;
- Boerkoel, Cornelius F.
Publication type:
Article
Multiple facial angiofibromas: A manifestation of Frank‐ter Haar syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2249, doi. 10.1002/ajmg.a.63231
By:
- Borroni, Riccardo G.;
- Piscazzi, Francesco;
- Valenti, Mario;
- Rimoldi, Valeria;
- Barile, Monica;
- Bianchi, Paolo;
- Favaro, Rebecca;
- Formai, Alessandra;
- Selicorni, Angelo;
- Manara, Sofia;
- Vinci, Valeriano;
- Lania, Andrea G.;
- Costanzo, Antonio
Publication type:
Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
By:
- Kuroda, Yukiko;
- Matsufuji, Mayumi;
- Enomoto, Yumi;
- Osaka, Hitoshi;
- Takanashi, Jun‐Ichi;
- Yamamoto, Toshiyuki;
- Numata‐Uematsu, Yurika;
- Tabata, Kenshiro;
- Kurosawa, Kenji;
- Inoue, Ken
Publication type:
Article
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2240, doi. 10.1002/ajmg.a.63227
By:
- del Pino, Mariana;
- Huckstadt, Victoria;
- Diaz‐Gonzalez, Francisca;
- Obregon, Maria Gabriela;
- Heath, Karen E.;
- Fano, Virginia
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2014, doi. 10.1002/ajmg.a.62822
Publication type:
Article
In Memoriam: Charles R. Scriver (1930–2023).
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2012, doi. 10.1002/ajmg.a.62821
Publication type:
Article
American College of Medical Genetics Issues Guidance on Polygenic Risk Scores.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2011, doi. 10.1002/ajmg.a.62820
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2010, doi. 10.1002/ajmg.a.62819
Publication type:
Article
Table of Contents, Volume 191A, Number 8, August 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2005, doi. 10.1002/ajmg.a.62818
Publication type:
Article