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Detecting subtle facial emotion recognition deficits in high-functioning Autism using dynamic stimuli of varying intensities

Neuropsychologia, 2010-07, Vol.48 (9), p.2777-2781

2010

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A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

American journal of human genetics, 2018-08, Vol.103 (2), p.213-220

2018

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Nature genetics, 2013-03, Vol.45 (3), p.295-298

2013

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Loss of SUFU Function in Familial Multiple Meningioma

American journal of human genetics, 2012-09, Vol.91 (3), p.520-526

2012

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Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice

PloS one, 2010-04, Vol.5 (4), p.e10195-e10195

2010

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Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Cancers, 2020-02, Vol.12 (2), p.378

2020

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Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Cancers, 2021-08, Vol.13 (16), p.4154

2021

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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Neurogenetics, 2012-05, Vol.13 (2), p.141-145

2012

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Germline and somatic mutations in meningiomas

Cancer genetics, 2015-04, Vol.208 (4), p.107-114

Smith, Miriam J

2015

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Maternal tendencies in women are associated with estrogen levels and facial femininity

Hormones and behavior, 2012, Vol.61 (1), p.12-16

2012

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Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Neurology, 2017-01, Vol.88 (1), p.87

2017

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Neurology, 2015-01, Vol.84 (2), p.141

2015

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Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition Syndromes

Neurosurgery, 2022-06, Vol.90 (6), p.793-799

2022

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Comment on: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM

Journal of neuropathology and experimental neurology, 2021-03, Vol.80 (3), p.289-290

2021

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Pain correlates with germline mutation in schwannomatosis

Medicine (Baltimore), 2018-02, Vol.97 (5), p.e9717-e9717

2018

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Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2861-2868

2023

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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

Human molecular genetics, 2012-12, Vol.21 (24), p.5239-5245

2012

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SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

Cancer genetics, 2014-09, Vol.207 (9), p.373-378

2014

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A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Cytogenetic and genome research, 2018-01, Vol.154 (2), p.57-61

2018

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Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.708-710

2015

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Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

Clinical biochemistry, 2013-05, Vol.46 (7-8), p.698-700

2013

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The voice and face of woman: One ornament that signals quality?

Evolution and human behavior, 2005-09, Vol.26 (5), p.398-408

2005

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Involvement of SMARCB1 in Inherited Predisposition to Schwannoma, Meningioma and Rhabdoid Tumours

Cancer genetics, 2014-09, Vol.207 (9), p.450-450

2014

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Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

Neurogenetics, 2012-02, Vol.13 (1), p.103-104

2012

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Detecting subtle facial emotion recognition deficits in high-functioning Autism using dynamic stimuli of varying intensities

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Loss of SUFU Function in Familial Multiple Meningioma

Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Germline and somatic mutations in meningiomas

Maternal tendencies in women are associated with estrogen levels and facial femininity

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition Syndromes

Comment on: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM

Pain correlates with germline mutation in schwannomatosis

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

The voice and face of woman: One ornament that signals quality?

Involvement of SMARCB1 in Inherited Predisposition to Schwannoma, Meningioma and Rhabdoid Tumours

Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

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