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NSD1 mutations generate a genome-wide DNA methylation signature

Nature communications, 2015-12, Vol.6 (1), p.10207-10207, Article 10207

2015

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Prolonged duration of persistent cell‐free fetal DNA from vanishing twin

Ultrasound in obstetrics & gynecology, 2018-10, Vol.52 (4), p.547-548

2018

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Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Ultrasound in obstetrics & gynecology, 2020-03, Vol.55 (3), p.383-390

2020

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OC18.01: Whole‐genome sequencing for fetal structural anomalies

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.51-52

2021

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Short‐ and long‐term outcome following thoracoamniotic shunting for fetal hydrothorax

Ultrasound in obstetrics & gynecology, 2021-04, Vol.57 (4), p.624-630

2021

Volltextzugriff (PDF)

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Clinical genetics, 2015-01, Vol.87 (1), p.34-41

2015

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Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia

Ultrasound in obstetrics & gynecology, 2020-09, Vol.56 (3), p.371-377

2020

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Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

American journal of neuroradiology : AJNR, 2021-01, Vol.42 (1), p.167-172

2021

Volltextzugriff (PDF)

Diagnostic utility of microarray testing in pregnancy loss

Ultrasound in obstetrics & gynecology, 2015-10, Vol.46 (4), p.478-486

2015

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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Scientific reports, 2017-11, Vol.7 (1), p.15585-13, Article 15585

2017

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EP09.06: Chromosomal microarray as a first tier test following diagnostic prenatal procedures: the Toronto Mount Sinai Hospital experience

Ultrasound in obstetrics & gynecology, 2016-09, Vol.48 (S1), p.300-300

2016

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Diagnostic approach in prenatally detected genital abnormalities

Ultrasound in obstetrics & gynecology, 2010-06, Vol.35 (6), p.637-646

2010

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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly

Clinical genetics, 2017-05, Vol.91 (5), p.708-716

2017

Volltextzugriff (PDF)

Foetal "black bone" MRI: utility in assessment of the foetal spine

British journal of radiology, 2015-02, Vol.88 (1046), p.20140496

2015

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Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

American journal of neuroradiology : AJNR, 2018-06, Vol.39 (6), p.1146-1152

2018

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Placental size and the prediction of severe early‐onset intrauterine growth restriction in women with low pregnancy‐associated plasma protein‐A

Ultrasound in obstetrics & gynecology, 2009-09, Vol.34 (3), p.274-282

2009

Volltextzugriff (PDF)

Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature

Ultrasound in obstetrics & gynecology, 2013-02, Vol.41 (2), p.162-167

2013

Volltextzugriff (PDF)

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

Journal of medical genetics, 2017-03, Vol.54 (3), p.157

2017

Volltextzugriff (PDF)

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

Clinical genetics, 2015-04, Vol.87 (4), p.330-337

2015

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Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

Clinical genetics, 2015-04, Vol.87 (4), p.378-382

2015

Volltextzugriff (PDF)

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis

Ultrasound in obstetrics & gynecology, 2014-10, Vol.44 (4), p.486-490

2014

Volltextzugriff (PDF)

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463

2010

Volltextzugriff (PDF)

The sooner the better: Genetic testing following ovarian cancer diagnosis

Gynecologic oncology, 2015-06, Vol.137 (3), p.423-429

2015

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Communicating Pharmacogenetic Research Results to Breastfeeding Mothers Taking Codeine: A Pilot Study of Perceptions and Benefits

Clinical pharmacology and therapeutics, 2010-12, Vol.88 (6), p.792-795

2010

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NSD1 mutations generate a genome-wide DNA methylation signature

Prolonged duration of persistent cell‐free fetal DNA from vanishing twin

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

OC18.01: Whole‐genome sequencing for fetal structural anomalies

Short‐ and long‐term outcome following thoracoamniotic shunting for fetal hydrothorax

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

Diagnostic utility of microarray testing in pregnancy loss

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

EP09.06: Chromosomal microarray as a first tier test following diagnostic prenatal procedures: the Toronto Mount Sinai Hospital experience

Diagnostic approach in prenatally detected genital abnormalities

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly

Foetal "black bone" MRI: utility in assessment of the foetal spine

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

Placental size and the prediction of severe early‐onset intrauterine growth restriction in women with low pregnancy‐associated plasma protein‐A

Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

The sooner the better: Genetic testing following ovarian cancer diagnosis

Communicating Pharmacogenetic Research Results to Breastfeeding Mothers Taking Codeine: A Pilot Study of Perceptions and Benefits

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