List of works - Somayyeh Fahiminiya

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

scientific article

ARHGDIA: a novel gene implicated in nephrotic syndrome ⬇️

scientific article published on February 22, 2013

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

scientific article published on September 2017

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

scientific article published on 06 July 2015

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB

scientific article

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

scientific article (publication date: September 2014)

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

scientific article

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

scientific article published on 23 March 2014

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

scientific article published on 11 December 2012

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

scientific journal article

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

scientific article published on 3 January 2013

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

scientific article published on 4 December 2015

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing

scientific article

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

scientific article published on 14 April 2015

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

scientific article

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

scientific article published on December 2014

Proteomic analysis of mare follicular fluid during late follicle development ⬇️

scientific article published on September 17, 2011

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

scientific article published on 28 May 2015

Reproductive physiology and ovarian folliculogenesis examined via 1H-NMR metabolomics signatures: a comparative study of large and small follicles in three mammalian species (Bos taurus, Sus scrofa domesticus and Equus ferus caballus).

scientific article published on January 2015

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

scientific article published on 7 July 2016

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

scientific article published on May 2016

Steroid hormones content and proteomic analysis of canine follicular fluid during the preovulatory period

scientific article

Transcriptome profiling of granulosa and theca cells during dominant follicle development in the horse

scientific article published on 24 September 2014

List of works by Somayyeh Fahiminiya

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

ARHGDIA: a novel gene implicated in nephrotic syndrome ⬇️

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

Proteomic analysis of mare follicular fluid during late follicle development ⬇️

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Reproductive physiology and ovarian folliculogenesis examined via 1H-NMR metabolomics signatures: a comparative study of large and small follicles in three mammalian species (Bos taurus, Sus scrofa domesticus and Equus ferus caballus).

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

Steroid hormones content and proteomic analysis of canine follicular fluid during the preovulatory period

Transcriptome profiling of granulosa and theca cells during dominant follicle development in the horse