Works matching AU Conboy, Erin

Results: 17

A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63499

By:

Liaqat, Khurram;
Treat, Kayla;
Mantcheva, Lili;
Nasir, Abdul;
Weaver, David D.;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Diagnostic deserts: Community‐level barriers to appropriate genetics services.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 296, doi. 10.1002/ajmg.a.63016

By:

Doyle, Tom A.;
Conboy, Erin;
Halverson, Colin M. E.

Publication type:

Article

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 455, doi. 10.1111/cge.14497

By:

Liaqat, Khurram;
Treat, Kayla;
Wilson, Theodore E.;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Published in:

Congenital Anomalies, 2024, v. 64, n. 3, p. 155, doi. 10.1111/cga.12566

By:

Bruns, Rebecca;
Liaqat, Khurram;
Nasir, Abdul;
Treat, Kayla;
Murthy, Vinaya S.;
Mantcheva, Lili;
Torres, Wilfredo;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases.

Published in:

JMIR Human Factors, 2024, v. 11, p. 1, doi. 10.2196/57833

By:

Doyle, Tom A;
Vershaw, Samantha L;
Conboy, Erin;
Halverson, Colin M E

Publication type:

Article

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 21, p. 3063, doi. 10.1093/hmg/ddad130

By:

Koop, Klaas;
Yuan, Weimin;
Tessadori, Federico;
Rodriguez-Polanco, Wilmer R;
Grubbs, Jeremy;
Zhang, Bo;
Osmond, Matt;
Graham, Gail;
Sawyer, Sarah;
Conboy, Erin;
Vetrini, Francesco;
Treat, Kayla;
Płoski, Rafal;
Pienkowski, Victor Murcia;
Kłosowska, Anna;
Fieg, Elizabeth;
Krier, Joel;
Mallebranche, Coralie;
Alban, Ziegler;
Aldinger, Kimberly A

Publication type:

Article

A familial SAMD9 variant present in pediatric myelodysplastic syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 2, p. 1, doi. 10.1101/mcs.a006256

By:

Rahim, Mahvish Q.;
Rahrig, April;
Overholt, Kathleen;
Conboy, Erin;
Czader, Magdalena;
Saraf, Amanda June

Publication type:

Article

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006254

By:

Buchh, Muqsit;
Gillespie, Patrick J.;
Treat, Kayla;
Abreu, Marco A.;
Schwantes-An, Tae-Hwi Linus;
Helm, Benjamin M.;
Fang Fang;
Xiaoling Xuei;
Mantcheva, Lili;
Suhrie, Kristen R.;
Graham, Brett H.;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease.

Published in:

Ophthalmic Genetics, 2023, v. 44, n. 4, p. 371, doi. 10.1080/13816810.2023.2209170

By:

Gage, Hannah;
Wetherill, Leah;
Anderson, Katelynn;
Conboy, Erin;
Haider, Kathryn

Publication type:

Article

Case of IFT140-associated Mainzer Saldino Syndrome.

Published in:

Ophthalmic Genetics, 2023, v. 44, n. 2, p. 208, doi. 10.1080/13816810.2022.2113545

By:

Patel, Shivam H.;
Bakhsh, Saaquib;
Conboy, Erin;
Hajrasouliha, Amir R.

Publication type:

Article

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

Published in:

Molecular Syndromology, 2015, v. 6, n. 1, p. 23, doi. 10.1159/000371598

By:

Volk, Amber;
Conboy, Erin;
Wical, Beverly;
Patterson, Marc;
Kirmani, Salman

Publication type:

Article

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2017, v. 16, n. 6, p. 970, doi. 10.5604/01.3001.0010.5290

By:

Bazerbachi, Fateh;
Conboy, Erin E.;
Mounajjed, Taofic;
Watt, Kymberly D.;
Babovic-Vuksanovic, Dusica;
Patel, Shailendra B.;
Kamath, Patrick S.

Publication type:

Article

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole‐Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.

Published in:

2025

By:

Gregory, Matthew R.;
Liaqat, Khurram;
Treat, Kayla;
Haider, Kathryn M.;
Vetrini, Francesco;
Conboy, Erin;
Ahmad, Irfan

Publication type:

Case Study

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8857628

By:

Peterman, Leia A.;
Vance, Gail H.;
Conboy, Erin E.;
Anderson, Katelynn;
Weaver, David D.

Publication type:

Article

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

Published in:

Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/9184265

By:

Conboy, Erin;
Vairo, Filippo;
Waggoner, Darrel;
Ober, Carole;
Das, Soma;
Dhamija, Radhika;
Klee, Eric W.;
Pichurin, Pavel

Publication type:

Article

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040

By:

Helm, Benjamin M.;
Helvaty, Lindsey R.;
Conboy, Erin;
Geddes, Gabrielle C.;
Graham, Brett H.;
Lah, Melissa;
Wetherill, Leah;
Landis, Benjamin J.;
Ware, Stephanie M.

Publication type:

Article

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.560

By:

Oliver, Gavin R.;
Blackburn, Patrick R.;
Ellingson, Marissa S.;
Conboy, Erin;
Pinto e Vairo, Filippo;
Webley, Matthew;
Thorland, Erik;
Ferber, Matthew;
Van Hul, Els;
Werf, Ilse M.;
Wuyts, Wim;
Babovic‐Vuksanovic, Dusica;
Klee, Eric W.

Publication type:

Article