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1 . Academic Journal
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
저자
by
Asuman Koparir
;
Caroline Lekszas
;
Kemal Keseroglu
;
Thalia Rose
;
Lena Rappl
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
저자
by
Alistair T. Pagnamenta
;
Carme Camps
;
Edoardo Giacopuzzi
;
John M. Taylor
;
Mona Hashim
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
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7 . Academic Journal
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
저자
by
Sheng-Jia Lin
;
Barbara Vona
;
Tracy Lau
;
Kevin Huang
;
Maha S. Zaki
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
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7 . Academic Journal
Unraveling haplotype errors in the DFNA33 locus
저자
by
Barbara Vona
;
Sabrina Regele
;
Aboulfazl Rad
;
Nicola Strenzke
;
Justin A. Pater
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Biallelic loss of EMC10 leads to mild to severe intellectual disability
저자
by
Rauan Kaiyrzhanov
;
Clarissa Rocca
;
Mohnish Suri
;
Sughra Gulieva
;
Maha S. Zaki
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)
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7 . Academic Journal
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
저자
by
Aboulfazl Rad
;
Maryam Najafi
;
Fatemeh Suri
;
Soheila Abedini
;
Stephen Loum
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
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7 . Academic Journal
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
저자
by
Maryam Najafi
;
Korbinian M. Riedhammer
;
Aboulfazl Rad
;
Paria Najarzadeh Torbati
;
Riccardo Berutti
, et al.
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Frontiers in Pediatrics, Vol 10 (2022)
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7 . Academic Journal
KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
Lauretta El Hayek
;
Islam Oguz Tuncay
;
Nadine Nijem
;
Jamie Russell
;
Sara Ludwig
, et al.
소스
eLife, Vol 9 (2020)
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7 . Academic Journal
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
저자
by
Barbara Vona
;
Aboulfazl Rad
;
Ellen Reisinger
.
소스
Genes, Vol 11, Iss 12, p 1411 (2020)
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5 . Academic Journal
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
저자
by
Julia Doll
;
Susanne Kolb
;
Linda Schnapp
;
Aboulfazl Rad
;
Franz Rüschendorf
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 1, p 311 (2020)
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