David Chitayat

David Chitayat

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David Chitayat

Publications by authors named "David Chitayat"

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Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.

J Genet Couns 2019 Oct 16;28(5):982-992. Epub 2019 Jul 16.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/jgc4.1150DOI Listing
October 2019

Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Questions.

Pediatr Nephrol 2019 Sep 16. Epub 2019 Sep 16.

Division of Nephrology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/s00467-019-04345-0DOI Listing
September 2019

Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.

Pediatr Nephrol 2019 Sep 16. Epub 2019 Sep 16.

Division of Nephrology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/s00467-019-04348-xDOI Listing
September 2019

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.

Prenat Diagn 2019 Aug 20;39(9):693-700. Epub 2019 Feb 20.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/pd.5418
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http://dx.doi.org/10.1002/pd.5418DOI Listing
August 2019

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Prenat Diagn 2019 Aug 16;39(9):720-731. Epub 2019 Jul 16.

Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.5505DOI Listing
August 2019

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Am J Med Genet A 2019 Jul 9;179(7):1325-1329. Epub 2019 May 9.

Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61162DOI Listing
July 2019

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.

Prenat Diagn 2019 06 15;39(7):544-548. Epub 2019 May 15.

Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.5466
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http://dx.doi.org/10.1002/pd.5466DOI Listing
June 2019

Increased nuchal translucency: results from microarray and RASopathy disorders testing.

Ultrasound Obstet Gynecol 2019 May 22. Epub 2019 May 22.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital , University of Toronto, Toronto, Ontario, Canada.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/uog.20352
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http://dx.doi.org/10.1002/uog.20352DOI Listing
May 2019

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Pharmacogenomics 2019 04 15;20(5):319-329. Epub 2019 Apr 15.

Medcan Health Management, Inc., Toronto, Ontario, Canada.

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http://dx.doi.org/10.2217/pgs-2018-0179DOI Listing
April 2019

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 03 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019

"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.

Pediatr Blood Cancer 2019 01 11;66(1):e27445. Epub 2018 Sep 11.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pbc.27445DOI Listing
January 2019

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

Prenat Diagn 2019 01 10;39(1):10-15. Epub 2018 Dec 10.

Fetal Medicine Unit, Department of Obstetrics & Gynaecology, Mount Sinai Hospital and University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/pd.5390DOI Listing
January 2019

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome.

Prenat Diagn 2019 01 27;39(1):38-44. Epub 2018 Dec 27.

Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.5395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590153PMC
January 2019

Risk of Major Malformations in Infants Following First-Trimester Exposure to Quetiapine.

Am J Psychiatry 2018 12 16;175(12):1225-1231. Epub 2018 Aug 16.

From the Department of Psychiatry and the Ammon-Pinizzotto Center for Women's Mental Health, Massachusetts General Hospital, Boston; Harvard Medical School, Boston; the Neurological Institute, Cleveland Clinic, Cleveland; the Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto; and the Harvard T.H. Chan School of Public Health, Harvard University, Boston.

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http://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2018.18
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http://dx.doi.org/10.1176/appi.ajp.2018.18010098DOI Listing
December 2018

Meconium peritonitis: the role of postnatal radiographic and sonographic findings in predicting the need for surgery.

Pediatr Radiol 2018 11 16;48(12):1755-1762. Epub 2018 Jul 16.

Department of Diagnostic Imaging, Hospital for Sick Children, Department of Medical Imaging, University of Toronto, 555 University Ave., Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s00247-018-4198-5DOI Listing
November 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR.

J Clin Med 2018 Oct 4;7(10). Epub 2018 Oct 4.

Department of Medicine, Division of Nephrology, Sunnybrook Science Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada.

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http://www.mdpi.com/2077-0383/7/10/324
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http://dx.doi.org/10.3390/jcm7100324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209924PMC
October 2018

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

J Genet Couns 2018 09 7;27(5):1130-1147. Epub 2018 Mar 7.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-018-0231-yDOI Listing
September 2018

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Am J Med Genet A 2018 09 2;176(9):2041-2043. Epub 2018 Aug 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.40360DOI Listing
September 2018

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

J Pediatr Genet 2018 Sep 9;7(3):134-137. Epub 2018 Mar 9.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0038-1636995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087473PMC
September 2018

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

J Allergy Clin Immunol 2018 08 26;142(2):618-629. Epub 2017 Nov 26.

Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173181
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http://dx.doi.org/10.1016/j.jaci.2017.10.033DOI Listing
August 2018

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Metab Brain Dis 2018 08 25;33(4):1369-1373. Epub 2018 Mar 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11011-018-0218-2DOI Listing
August 2018

Pregnancy in 3M syndrome.

J Obstet Gynaecol 2018 Apr 19;38(3):421-422. Epub 2017 Oct 19.

c Department of Obstetrics and Gynaecology , Maternal Fetal Medicine, St. Michael's Hospital, University of Toronto , Toronto , Canada.

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http://dx.doi.org/10.1080/01443615.2017.1360849DOI Listing
April 2018

Mutation in the ADNP gene associated with Noonan syndrome features.

Clin Dysmorphol 2018 Apr;27(2):53-57

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000215DOI Listing
April 2018

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Mov Disord 2018 04 13;33(4):656-657. Epub 2018 Feb 13.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://doi.wiley.com/10.1002/mds.27320
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http://dx.doi.org/10.1002/mds.27320DOI Listing
April 2018

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Appl Clin Genet 2018 20;11:31-44. Epub 2018 Apr 20.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.2147/TACG.S150982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918624PMC
April 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Am J Med Genet A 2017 Sep 25;173(9):2467-2471. Epub 2017 Jul 25.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38321
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http://dx.doi.org/10.1002/ajmg.a.38321DOI Listing
September 2017

No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.

J Obstet Gynaecol Can 2017 Sep;39(9):e380-e394

Calgary, AB.

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http://dx.doi.org/10.1016/j.jogc.2017.06.013DOI Listing
September 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Prenat Diagn 2017 Feb 25;37(2):144-150. Epub 2017 Jan 25.

Genetic Institute, Assaf Harofeh Medical Center, Zerifin, Israel.

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http://dx.doi.org/10.1002/pd.4977DOI Listing
February 2017

The pathology of incipient polymicrogyria.

Brain Dev 2017 Jan 9;39(1):23-39. Epub 2016 Jul 9.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada; Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.06.005DOI Listing
January 2017

Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.

Am J Med Genet A 2016 12 8;170(12):3227-3230. Epub 2016 Aug 8.

Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37876DOI Listing
December 2016

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.

Am J Med Genet A 2016 12 17;170(12):3083-3089. Epub 2016 Aug 17.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37890DOI Listing
December 2016

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Am J Med Genet A 2016 12 19;170(12):3133-3137. Epub 2016 Sep 19.

Division of Medical and Molecular Genetics, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37946DOI Listing
December 2016

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.

Clin Dysmorphol 2016 Oct;25(4):186-9

aFetal Medicine Unit & Prenatal Diagnosis Centre Departments of bRadiology cGynecology, Shanghai First Maternity and Infant hospital, Tongji University School of Medicine, Shanghai, People's Republic of China dDepartment of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital eDepartment of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada fDepartment of Medical Genomics, Royal Prince Alfred Hospital gDiscipline of Genetic Medicine and Centre for China Studies, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/MCD.0000000000000130DOI Listing
October 2016

Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.

Prenat Diagn 2016 Sep 9;36(9):891-3. Epub 2016 Aug 9.

The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.4869DOI Listing
September 2016

The Relationship Between Burnout and Occupational Stress in Genetic Counselors.

J Genet Couns 2016 08 26;25(4):731-41. Epub 2016 May 26.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-016-9968-3DOI Listing
August 2016

Alagille syndrome: clinical perspectives.

Appl Clin Genet 2016 30;9:75-82. Epub 2016 Jun 30.

Division of Clinical and Metabolic Genetics; Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.2147/TACG.S86420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935120PMC
July 2016

Experience with genetic counseling: the adolescent perspective.

J Genet Couns 2016 06 17;25(3):583-95. Epub 2015 Nov 17.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-015-9912-yDOI Listing
June 2016

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.

Clin Case Rep 2016 04 28;4(4):351-5. Epub 2016 Feb 28.

Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada; Department of Molecular Genetics University of Toronto Toronto ON Canada; The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto ON Canada.

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http://dx.doi.org/10.1002/ccr3.425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831382PMC
April 2016

Reproductive Safety of Second-Generation Antipsychotics: Current Data From the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.

Am J Psychiatry 2016 Mar 6;173(3):263-70. Epub 2015 Oct 6.

From the Center for Women's Mental Health, Massachusetts General Hospital, Boston; the Department of Epidemiology, Boston University School of Public Health, Boston; the Department of Epidemiology, Harvard School of Public Health, Boston; the Cleveland Clinic Neurological Institute, Cleveland; UC San Diego School of Medicine, La Jolla, Calif.; the Department of Psychology, Temple University, Philadelphia; and the Departments of Pediatrics, Molecular Genetics, Obstetrics and Gynecology, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto.

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http://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2015.15
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http://dx.doi.org/10.1176/appi.ajp.2015.15040506DOI Listing
March 2016

The ontogeny of P-glycoprotein in the developing human blood-brain barrier: implication for opioid toxicity in neonates.

Pediatr Res 2015 Oct 18;78(4):417-21. Epub 2015 Jun 18.

Department of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/pr.2015.119DOI Listing
October 2015

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.37134
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http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus.

J Med Genet 2015 Sep 3;52(9):585-6. Epub 2015 Jun 3.

Cytogenetics Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103223DOI Listing
September 2015

Skull base development and craniosynostosis.

Pediatr Radiol 2015 Sep 7;45 Suppl 3:S485-96. Epub 2015 Sep 7.

Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto, M5G 1X8, Canada,

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http://link.springer.com/content/pdf/10.1007/s00247-015-3320
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http://link.springer.com/10.1007/s00247-015-3320-1
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http://dx.doi.org/10.1007/s00247-015-3320-1DOI Listing
September 2015

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Cell Mol Gastroenterol Hepatol 2015 Jul;1(4):381-394.e7

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada ; Institute of Medical Science, University of Toronto, Toronto, ON, Canada ; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S2352345X150009
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http://dx.doi.org/10.1016/j.jcmgh.2015.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507283PMC
July 2015

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E325-32. Epub 2014 Nov 11.

Bone and Extracellular Matrix Branch (A.R., A.S.B., A.M.B., W.A.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Department of Diagnostic Radiology (S.C.H.), National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Physiology and Experimental Medicine Program (A.H.), Heart Center, Hospital for Sick Children, University of Toronto, Ontario, Canada M5S 3OA4; Division of Diagnostic Imaging (J.S.), Department of Pediatrics, and Division of Clinical and Metabolic Genetics (D.C.), Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8; and The Prenatal Diagnosis and Medical Genetics Program (D.C.), Department of Obstetrics and Gynecology, Mt Sinai Hospital, University of Toronto, Toronto, Ontario, Canada M5G 1Z5.

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http://dx.doi.org/10.1210/jc.2014-3082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318905PMC
February 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Williams syndrome presenting with findings consistent with Alagille syndrome.

Clin Case Rep 2015 Jan 7;3(1):24-8. Epub 2014 Nov 7.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto Toronto, Ontario, Canada ; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ccr3.138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317206PMC
January 2015

PGD for a carrier of an intrachromosomal insertion using aCGH.

Syst Biol Reprod Med 2014 Dec 23;60(6):377-82. Epub 2014 Sep 23.

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto .

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http://dx.doi.org/10.3109/19396368.2014.962710DOI Listing
December 2014

QF-PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF).

Prenat Diagn 2014 Oct 29;34(10):970-6. Epub 2014 May 29.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pd.4405DOI Listing
October 2014

Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life.

JACC Heart Fail 2014 Aug 9;2(4):403-11. Epub 2014 Jul 9.

Fetal Cardiac Program, Labatt Family Heart Center, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22131779140018
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http://dx.doi.org/10.1016/j.jchf.2014.02.010DOI Listing
August 2014

Fetal syringomyelia.

Acta Neuropathol Commun 2014 Aug 6;2:91. Epub 2014 Aug 6.

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http://dx.doi.org/10.1186/s40478-014-0091-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167126PMC
August 2014

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

Am J Med Genet A 2014 Feb 5;164A(2):461-6. Epub 2013 Nov 5.

Department of Paediatrics and Adolescent Medicine, Centre for Reproduction, Growth and Development, The University of Hong Kong, Hong Kong, Hong Kong.

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http://doi.wiley.com/10.1002/ajmg.a.36246
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http://dx.doi.org/10.1002/ajmg.a.36246DOI Listing
February 2014

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

Prenat Diagn 2013 Nov 4;33(11):1039-43. Epub 2013 Aug 4.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/pd.4193DOI Listing
November 2013

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Pediatr Neurol 2013 Nov;49(5):374-8

Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.022DOI Listing
November 2013

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

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http://www.neurology.org/content/early/2013/08/09/WNL.0b013e
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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182a43e5
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http://dx.doi.org/10.1212/WNL.0b013e3182a43e57DOI Listing
September 2013

Impact of prenatal risk factors on congenital heart disease in the current era.

J Am Heart Assoc 2013 May 31;2(3):e000064. Epub 2013 May 31.

Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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https://www.ahajournals.org/doi/10.1161/JAHA.113.000064
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http://dx.doi.org/10.1161/JAHA.113.000064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698764PMC
May 2013