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| Open Access
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
- Shaza Alkhidir
- , Karen El-Akouri
- & Mashael Al-Shafai
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Article
| Open Access
A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
- Tiago Fernando Chaves
- , Maristela Ocampos
- & Angelica Francesca Maris
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Article
| Open Access
Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever
- Danika L. Bannasch
- , Danielle T. Oertle
- & Nikhil Joshi
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Article
| Open Access
Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples
- Laura Melado
- , Barbara Lawrenz
- & Human Fatemi
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Article
| Open Access
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
- Ghalia Al-Kasbi
- , Fathiya Al-Murshedi
- & Almundher Al-Maawali
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Article
| Open Access
Demographics and histopathological characteristics of enucleated microphthalmic globes
- Hind M. Alkatan
- , Khalid M. Bedaiwi
- & Azza M. Y. Maktabi
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Article
| Open Access
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
- Atta Ur Rehman
- , Neda Sepahi
- & Carlo Rivolta
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Article
| Open Access
Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome
- Mohd Fareed
- , Vikas Makkar
- & Gurdarshan Singh
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Article
| Open AccessIdentifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities
- Kimia Najafi
- , Zohreh Mehrjoo
- & Hossein Najmabadi
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Article
| Open Access
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan
- Memoona Ramzan
- , Rasheeda Bashir
- & Sadaf Naz
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Article
| Open Access
Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia
- Sayed AbdulAzeez
- , Nourah H. Al Qahtani
- & J. Francis Borgio
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Article
| Open Access
Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
- Allysson Allan de Farias
- , Kelly Nunes
- & Silvana Santos
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Article
| Open Access
Close inbreeding and low genetic diversity in Inner Asian human populations despite geographical exogamy
- Nina Marchi
- , Philippe Mennecier
- & Evelyne Heyer
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Article
| Open Access
Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
- Stijn Van de Sompele
- , Lucie Pécheux
- & Elfride De Baere
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Article
| Open Access
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families
- Ting Guo
- , Zhi-Ping Tan
- & Yi-Feng Yang
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Article
| Open Access
The Distribution Characteristics and Applications for Maternal Cells on Chicken Egg Vitelline Membrane
- Quanlin Li
- , Wenbo Li
- & Jiangxia Zheng
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Article
| Open Access
Genomic insights into the population structure and history of the Irish Travellers
- Edmund Gilbert
- , Shai Carmi
- & Gianpiero L. Cavalleri
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Article
| Open Access
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
- Kristof Van Schil
- , Marcus Karlstetter
- & Elfride De Baere
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Article
| Open Access
NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity
- Ossama K. Abou Hassan
- , Akl C. Fahed
- & Georges M. Nemer
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder