Christina Lam

Christina Lam

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Christina Lam

Christina Lam

Publications by authors named "Christina Lam"

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52Publications

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Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Am J Med Genet A 2019 Nov 18;179(11):2228-2232. Epub 2019 Jul 18.

Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.61297DOI Listing
November 2019

Evidence-Based Practice Competence in Nursing Students: An Exploratory Study With Important Implications for Educators.

Worldviews Evid Based Nurs 2019 Apr;16(2):161-168

Interim Director of Research & Education Services, Libraries & Educational Technologies, James Madison University, Harrisonburg, VA, USA.

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http://dx.doi.org/10.1111/wvn.12357DOI Listing
April 2019

A case of bilateral Parry-Romberg syndrome successfully treated with hyaluronic acid filler augmentation.

J Cosmet Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1111/jocd.12948DOI Listing
April 2019

Factor VIII and vWF deficiency in STT3A-CDG.

J Inherit Metab Dis 2019 Mar 30;42(2):325-332. Epub 2019 Jan 30.

Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Western Australia.

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http://dx.doi.org/10.1002/jimd.12021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658093PMC
March 2019

Congenital disorders of glycosylation.

Ann Transl Med 2018 Dec;6(24):477

Division of Biochemical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.21037/atm.2018.10.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331365PMC
December 2018

Linearized solar elastosis of the legs: A novel presentation and review of the literature.

J Cutan Pathol 2018 Nov 15;45(11):855-857. Epub 2018 Aug 15.

Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1111/cup.13325DOI Listing
November 2018

At what costs? Student loan debt, debt stress, and racially/ethnically diverse college students' perceived health.

Cultur Divers Ethnic Minor Psychol 2018 Oct 28;24(4):459-469. Epub 2018 Jun 28.

Department of Counseling and Counseling Psychology.

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http://dx.doi.org/10.1037/cdp0000207DOI Listing
October 2018

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Pediatr Nephrol 2018 07 10;33(7):1257-1261. Epub 2018 Apr 10.

Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00467-018-3937-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990461PMC
July 2018

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Mol Genet Metab 2018 05 10;124(1):82-86. Epub 2018 Mar 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2018.03.002DOI Listing
May 2018

Benign and malignant hybrid adnexal tumors in a patient with epidermodysplasia verruciformis.

J Cutan Pathol 2017 Nov 4;44(11):969-973. Epub 2017 Sep 4.

Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1111/cup.13022DOI Listing
November 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

J Allergy Clin Immunol 2017 07 4;140(1):291-294.e4. Epub 2017 Jan 4.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.12.951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496781PMC
July 2017

Assessing Abnormal Uterine Bleeding: Are Physicians Taking a Meaningful Clinical History?

J Womens Health (Larchmt) 2017 07 20;26(7):762-767. Epub 2017 Mar 20.

1 Department of Obstetrics and Gynecology, Women & Infants Hospital , Providence, Rhode Island.

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http://dx.doi.org/10.1089/jwh.2016.6155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512463PMC
July 2017

Annular Plaque on the Inner Thigh.

Am J Dermatopathol 2017 Jul;39(7):551-552

*Section of Dermatopathology, Department of Dermatology, Boston University School of Medicine, Boston, MA; †Department of Pathology, B.P.Koirala Institute of Health Science, Dharan, Nepal; ‡Department of Dermatology, Boston University, Boston University School of Medicine Boston, MA; and §Dermatopathology Section, Department of Pathology and Laboratory Medicine, VA Medical center, Boston, MA.

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http://dx.doi.org/10.1097/DAD.0000000000000521DOI Listing
July 2017

An Annular Plaque on the Inner Thigh.

Am J Dermatopathol 2017 Jul;39(7):e85

*Section of Dermatopathology, Department of Dermatology, Boston University School of Medicine, Boston, MA; †Department of Pathology, B.P.Koirala Institute of Health Science, Dharan, Nepal; ‡Department of Dermatology, Boston University School of Medicine, Boston University, Boston, MA; and §Dermatopathology Section, Department of Pathology and Laboratory Medicine, VA Medical Center, Boston, MA.

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http://Insights.ovid.com/crossref?an=00000372-201707000-0001
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http://dx.doi.org/10.1097/DAD.0000000000000520DOI Listing
July 2017

An important cause of erythroderma.

BMJ 2017 04 12;357:j1205. Epub 2017 Apr 12.

Department of Dermatology, Boston University Medical Center, Boston, MA, USA.

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http://dx.doi.org/10.1136/bmj.j1205DOI Listing
April 2017

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

PLoS One 2015 22;10(9):e0138437. Epub 2015 Sep 22.

Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK 73104, United States of America; Department of Biochemistry & Molecular Biology, University of Oklahoma College of Medicine, Oklahoma City, OK 73104, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138437PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579136PMC
June 2016

Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.

Nucleic Acids Res 2016 06 20;44(11):5095-104. Epub 2016 Feb 20.

Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK 73104, USA Department of Biostatistics & Epidemiology, University of Oklahoma College of Public Health, Oklahoma City, OK 73104, USA

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http://nar.oxfordjournals.org/content/early/2016/02/19/nar.g
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http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gkw107
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http://dx.doi.org/10.1093/nar/gkw107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914082PMC
June 2016

Factors Associated With Point-of-Care Treatment Decisions for Hidradenitis Suppurativa.

JAMA Dermatol 2016 05;152(5):553-7

Boston University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamadermatol.2015.4593DOI Listing
May 2016

Development and Pilot Testing of the Cutaneous Lupus Screening Tool.

JAMA Dermatol 2016 Jan;152(1):60-6

Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamadermatol.2015.3088DOI Listing
January 2016

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.

Ann Neurol 2014 Oct 30;76(4):522-8. Epub 2014 Aug 30.

Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK.

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http://dx.doi.org/10.1002/ana.24249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191993PMC
October 2014

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

Am J Med Genet A 2014 Jun 8;164A(6):1512-9. Epub 2014 Apr 8.

Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36446DOI Listing
June 2014

Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.

J Biol Chem 2014 May 15;289(22):15194-202. Epub 2014 Apr 15.

From the Departments of Pediatrics and Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104

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http://dx.doi.org/10.1074/jbc.M114.566414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140879PMC
May 2014

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

J Pediatr 2014 Apr 30;164(4):720-725.e6. Epub 2014 Jan 30.

University of Colorado School of Medicine, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, The Digestive Health Institute and Children's Hospital Colorado, Aurora CO.

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http://dx.doi.org/10.1016/j.jpeds.2013.12.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070427PMC
April 2014

Two novel compound heterozygous mutations in in two siblings with OPA3-related 3-methylglutaconic aciduria.

Mol Genet Metab Rep 2014 Jan;1:114-123

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987911PMC
January 2014

Patterns of symptom recognition, interpretation, and response in heart failure patients: an integrative review.

J Cardiovasc Nurs 2013 Jul-Aug;28(4):348-59

College of Nursing, Villanova University, Pennsylvania, USA.

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http://dx.doi.org/10.1097/JCN.0b013e3182531cf7DOI Listing
November 2013

Dermatomyositis induced by anti-tumor necrosis factor in a patient with juvenile idiopathic arthritis.

JAMA Dermatol 2013 Oct;149(10):1204-8

Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamadermatol.2013.5220DOI Listing
October 2013

Intravenous immunoglobulin for refractory cutaneous dermatomyositis: a retrospective analysis from an academic medical center.

J Am Acad Dermatol 2013 Oct;69(4):654-7

Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jaad.2013.06.007DOI Listing
October 2013

Extramammary Paget disease: epidemiology and association to cancer in a Quebec-based population.

J Low Genit Tract Dis 2013 Apr;17(2):167-74

Division of Vulvar Disease, Centre Hospitalier Universitaire de Montréal, University of Montreal, Québec, Canada H2X 3J4.

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http://dx.doi.org/10.1097/LGT.0b013e31825f4b4fDOI Listing
April 2013

Images in clinical medicine. Epidermolysis bullosa acquisita.

N Engl J Med 2013 Mar;368(13):e17

Boston University School of Medicine, Boston, MA, USA.

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http://dx.doi.org/10.1056/NEJMicm1204895DOI Listing
March 2013

Expanded newborn screening for inborn errors of metabolism: overview and outcomes.

Adv Pediatr 2012 ;59(1):209-45

The Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/j.yapd.2012.04.013DOI Listing
November 2012

Peanut consumption increases levels of plasma very long chain fatty acids in humans.

Mol Genet Metab 2012 Nov 20;107(3):620-2. Epub 2012 Jul 20.

Department of Pediatrics, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.015DOI Listing
November 2012

Management of cutaneous dermatomyositis.

Dermatol Ther 2012 Mar-Apr;25(2):112-34

Department of Dermatology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1111/j.1529-8019.2012.01491.xDOI Listing
October 2012

Targetoid hemosiderotic hemangiomas (hobnail hemangiomas) are vascular lymphatic malformations: a study of 12 pediatric cases.

J Am Acad Dermatol 2012 Jan 27;66(1):116-20. Epub 2011 Jul 27.

Division of Dermatology, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622110060
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http://dx.doi.org/10.1016/j.jaad.2011.05.025DOI Listing
January 2012

Is a lumbar puncture necessary when evaluating febrile infants (30 to 90 days of age) with an abnormal urinalysis?

Pediatr Emerg Care 2011 Nov;27(11):1057-61

Infectious Diseases Division, Department of Pediatrics, The Montreal Children's Hospital, McGill University Health Center, McGill University, Montréal, Québec, Canada.

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http://www.achresidents.ca/education/Fall%20retreat%202012%2
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PEC.0b013e318235ea18DOI Listing
November 2011

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Mol Genet Metab 2011 Aug 22;103(4):338-40. Epub 2011 Apr 22.

Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.007DOI Listing
August 2011

Extramammary Paget's disease: Summary of current knowledge.

Dermatol Clin 2010 Oct;28(4):807-26

Department of Dermatology, CHUM, University of Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.det.2010.08.002DOI Listing
October 2010

Sonographic appearance of mucinous biliary papillomatosis.

J Ultrasound Med 2003 Nov;22(11):1277-80; quiz 1281-2

Department of Radiology, Queen Mary Hospital, Pokfulam, Hong Kong.

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http://dx.doi.org/10.7863/jum.2003.22.11.1277DOI Listing
November 2003

Preoperative sonographic diagnosis of primary fallopian tube carcinoma.

J Ultrasound Med 2002 Oct;21(10):1171-3

Department of Radiology, Queen Mary Hospital, Hong Kong, Hong Kong.

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http://dx.doi.org/10.7863/jum.2002.21.10.1171DOI Listing
October 2002