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Publications Authored by Monica H Wojcik | PubFacts
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24Publications

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A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Eur J Hum Genet 2019 Nov 11;27(11):1649-1658. Epub 2019 Jun 11.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1038/s41431-019-0446-xDOI Listing
November 2019

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

J Pediatr 2019 Oct 22;213:235-240. Epub 2019 Jun 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2019.05.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765408PMC
October 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

Am J Med Genet A 2019 Aug 10;179(8):1565-1569. Epub 2019 May 10.

Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663627PMC
August 2019

Infant mortality: the contribution of genetic disorders.

J Perinatol 2019 Aug 8. Epub 2019 Aug 8.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41372-019-0451-5DOI Listing
August 2019

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Am J Med Genet A 2019 Jul 22;179(7):1299-1303. Epub 2019 Apr 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1002/ajmg.a.61150DOI Listing
July 2019

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Eur J Med Genet 2019 Apr 29. Epub 2019 Apr 29.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2019.04.017DOI Listing
April 2019

Expanding the phenotypic spectrum associated with OPHN1 variants.

Eur J Med Genet 2019 Feb 28;62(2):137-143. Epub 2018 Jun 28.

Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310103PMC
February 2019

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.

J Perinatol 2018 09 3;38(9):1125-1134. Epub 2018 Aug 3.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41372-018-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419510PMC
September 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Am J Med Genet A 2017 Aug 2;173(8):2235-2239. Epub 2017 Jun 2.

Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, and the Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509496PMC
August 2017

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

J Pediatr 2017 06 28;185:248-248.e1. Epub 2017 Mar 28.

Division of General Pediatrics Boston Children's Hospital Harvard Medical School Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529256PMC
June 2017

A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose.

NDT Plus 2011 Dec 16;4(6):394-6. Epub 2011 Sep 16.

Harvard Medical School, Boston, MA, USA ; Renal Division, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/ndtplus/sfr104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421659PMC
December 2011

Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa.

Bone 2010 Mar 18;46(3):796-800. Epub 2009 Nov 18.

Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.bone.2009.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824019PMC
March 2010