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Jan E Liebelt

Explore the profile of Jan E Liebelt including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 33
Followers 0
Related Specialties
Genetics
General Medicine
Molecular Biology
Top 10 Co-Authors
Lynette Moore
Anne ODonnell-Luria
Sarah L King-Smith
Christopher P Barnett
Hamish S Scott
Milena Babic
Peer Arts
Jinghua Feng
Andreas W Schreiber
Alicia B Byrne
Published In
Am J Med Genet A
Nat Med
BMC Med Genet
medRxiv
J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature . 2024 Jul; 632(8026):832-840. PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
2.
variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv . 2024 Apr; PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
3.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Byrne A, Arts P, Ha T, Kassahn K, Pais L, ODonnell-Luria A, et al.
Nat Med . 2023 Jul; 30(1):302. PMID: 37429925
No abstract available.
4.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Byrne A, Arts P, Ha T, Kassahn K, Pais L, ODonnell-Luria A, et al.
Nat Med . 2023 Jan; 29(1):180-189. PMID: 36658419
Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death,...
5.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Byrne A, Mizumoto S, Arts P, Yap P, Feng J, Schreiber A, et al.
J Med Genet . 2020 Jan; 57(7):454-460. PMID: 31988067
Background: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular...
6.
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype
Yap P, Liebelt J, Amor D, Moore L, Savarirayan R
Am J Med Genet A . 2016 Jan; 170A(5):1363-6. PMID: 26754439
No abstract available.
7.
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley K, Laurie K, Liebelt J, Gecz J, Durkin S, Craig J, et al.
BMC Med Genet . 2010 Nov; 11:165. PMID: 21092079
Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements...
8.
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Burdon K, Durkin S, Burke M, Edwards M, Pater J, Straga T, et al.
Am J Med Genet A . 2009 Mar; 149A(4):633-9. PMID: 19291767
A novel syndrome initially presenting with cataract and developmental delay within an Indigenous Australian family is described. We present the extended four generation pedigree and describe in detail the phenotypic...