S. Fahiminiya

发表

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

Stephen T Warren, Somayyeh Fahiminiya, E. Zackai, 2012, Journal of Medical Genetics.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

J. Ragoussis, R. Paschke, R. Siebert, 2019, The Journal of clinical investigation.

Current and Future Methods for mRNA Analysis: A Drive Toward Single Molecule Sequencing.

J. Ragoussis, Anthony Bayega, Spyros Oikonomopoulos, 2018, Methods in molecular biology.

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma

W. Foulkes, A. Shlien, J. Wasserman, 2018, The Journal of clinical endocrinology and metabolism.

Biologic and Clinical Perspectives on Thyroid Cancer.

W. Foulkes, L. de Kock, S. Fahiminiya, 2016, The New England journal of medicine.

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

Z. Nawaz, T. Shintani, M. Noda, 2015, Cell reports.

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients

F. Glorieux, P. Roughley, J. Majewski, 2012, Journal of Medical Genetics.

Proteomic analysis of mare follicular fluid during late follicle development

V. Labas, J. Dacheux, S. Fahiminiya, 2011, Proteome Science.

Improvement of 2D-PAGE resolution of human, porcine and equine follicular fluid by means of hexapeptide ligand library.

V. Labas, J. Dacheux, S. Fahiminiya, 2011, Reproduction in domestic animals = Zuchthygiene.

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

Marissa A. LeBlanc, C. McMaster, J. Majewski, 2014, JAMA ophthalmology.

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

J. Ott, M. Lathrop, M. Tétreault, 2015, Scientific Reports.

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

D. Sillence, F. Glorieux, J. Majewski, 2015, American journal of human genetics.

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

V. Labas, S. Chastant-Maillard, S. Fahiminiya, 2010, Reproductive biology and endocrinology : RB&E.

SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities.

W. Foulkes, M. Levental, M. Khanna, 2018, JCO precision oncology.

Infantile Pulmonary Teratoid Tumor.

W. Foulkes, S. Albrecht, P. Fiset, 2018, The New England journal of medicine.

[Follicular fluid in mammals].

S. Fahiminiya, N. Gérard, 2010, Gynecologie, obstetrique & fertilite.

Transcriptome Profiling of Granulosa and Theca Cells During Dominant Follicle Development in the Horse1

D. Waddington, J. Nadaf, A. Mcneilly, 2014, Biology of reproduction.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

A. Pereira, M. Passos-Bueno, M. Zatz, 2015, Journal of Medical Genetics.

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

J. Majewski, T. Sahoo, R. Slim, 2018, American journal of human genetics.

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

Z. Nawaz, V. Tropepe, J. Nadaf, 2015, Journal of Medical Genetics.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

S. Bens, R. Siebert, A. Mes-Masson, 2017, Cancer research.

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

David T. W. Jones, P. Lockhart, C. Greenwood, 2016, Acta Neuropathologica.

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

M. Tétreault, J. Nadaf, J. Majewski, 2015, American journal of human genetics.

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

Jacek Majewski, Javad Nadaf, Somayyeh Fahiminiya, 2015, Bioinform..

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

C. Marshall, A. Paterson, F. Glorieux, 2013, American journal of human genetics.

Transcript Profiling Using Long-Read Sequencing Technologies.

J. Ragoussis, H. Djambazian, Anthony Bayega, 2018, Methods in molecular biology.

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

E. Shoubridge, A. Gingras, H. McBride, 2016, EMBO molecular medicine.

Hemizygous mutations in SNAP 29 unmask autosomal recessive conditions and contribute to atypical fi ndings in patients with 22 q 11 . 2 DS

E. Zackai, S. Warren, J. Vermeesch, 2013 .

Poorly differentiated thyroid carcinoma of childhood and adolescence: A distinct entity characterized by DICER1 mutations

T. Giordano, W. Foulkes, Y. Nikiforov, 2020, Modern Pathology.

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

W. Foulkes, D. Provencher, P. Tonin, 2021, Scientific Reports.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

E. Shoubridge, H. Antonicka, F. Sasarman, 2015, Human molecular genetics.

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

F. Glorieux, J. Majewski, F. Rauch, 2015, American journal of human genetics.

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

E. Obersztyn, J. Majewski, J. Wierzba, 2014, American journal of medical genetics. Part A.

Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar

Z. Nawaz, J. Majewski, J. Schwartzentruber, 2014, Clinical genetics.

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

F. Glorieux, J. Majewski, F. Rauch, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

A. Mansour, A. Mégarbané, J. Majewski, 2014, PloS one.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Mutations inPNPLA6are linked to photoreceptor degeneration and various forms of childhood

D. Sharon, Rui Chen, P. Chinnery, 2015 .

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

R. Siebert, A. Berchuck, H. Mackay, 2014, Nature Genetics.

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).

L. Nadal-Desbarats, S. Fahiminiya, N. Gérard, 2015, Omics : a journal of integrative biology.

Methodologies for Transcript Profiling Using Long-Read Technologies

Jiannis Ragoussis, Haig Djambazian, Spyros Oikonomopoulos, 2020, Frontiers in Genetics.

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma

L. Bégin, W. Foulkes, N. Hamel, 2018, The journal of pathology. Clinical research.

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

M. Kool, W. Foulkes, Ryan S. Lee, 2015, Oncotarget.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

M. O'sullivan, W. Foulkes, M. Fabian, 2018, Modern Pathology.

Mutations in WNT1 are a cause of osteogenesis imperfecta

F. Glorieux, J. Majewski, F. Rauch, 2013, Journal of Medical Genetics.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

J. Majewski, J. Ignatius, K. Vuopala, 2018, Clinical genetics.

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

B. Fernandez, M. Brudno, M. Woods, 2020, Scientific Reports.

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Warren A. Cheung, E. Shoubridge, A. Gingras, 2016, Human mutation.

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

F. Glorieux, J. Majewski, F. Rauch, 2015, Human molecular genetics.

Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer

C. Greenwood, S. Bens, R. Siebert, 2021, bioRxiv.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

A novel rearrangement of occludin causes brain calcification and renal dysfunction

Marissa A. LeBlanc, C. McMaster, J. Majewski, 2013, Human Genetics.

Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders

L. Jerome-Majewska, P. Eydoux, G. Nishimura, 2016, American journal of medical genetics. Part A.

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

C. S. Gunn, R. Hegele, N. Katsanis, 2017, Journal of Medical Genetics.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

P. Roughley, J. Majewski, F. Rauch, 2013, Bone.

ARHGDIA: a novel gene implicated in nephrotic syndrome

Kevin C. H. Ha, S. Narod, J. Majewski, 2013, Journal of Medical Genetics.

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

J. Ragoussis, A. Montpetit, C. Carvalho, 2023, Haemophilia : the official journal of the World Federation of Hemophilia.

Ovarian small cell carcinoma in one of a pair of monozygous twins

W. Foulkes, J. Nadaf, S. Albrecht, 2018, Familial Cancer.

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

C. Marshall, T. Paton, A. Paterson, 2017, Investigative ophthalmology & visual science.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

F. Glorieux, J. Majewski, F. Rauch, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

J. Nadaf, J. Majewski, S. Fahiminiya, 2015, Bioinform..

Ovarian small cell carcinoma in one of a pair of monozygous twins

W. Foulkes, J. Nadaf, S. Albrecht, 2018, Familial Cancer.

[Follicular fluid in mammals].

S. Fahiminiya, N. Gérard, N. Gérard, 2010, Gynecologie, obstetrique & fertilite.

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

W. Foulkes, S. Albrecht, J. Priest, 2018, Pediatric blood & cancer.