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