Publications by authors named "Angela E Lin"

97Publications

Depiction of ectrodactyly, sirenomelian and cyclopia in a figure by Hokusai.

Am J Med Genet C Semin Med Genet 2020 Nov 2. Epub 2020 Nov 2.

Birth Defects Monitoring Program, Department of Public Health, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.c.31850DOI Listing
November 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nat Genet 2020 10 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/s41588-020-0695-1DOI Listing
October 2020

Characteristics of Adults With Congenital Heart Defects in the United States.

J Am Coll Cardiol 2020 Jul;76(2):175-182

Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia.

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http://dx.doi.org/10.1016/j.jacc.2020.05.025DOI Listing
July 2020

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.

Am J Med Genet C Semin Med Genet 2020 03 23;184(1):53-63. Epub 2019 Dec 23.

Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.c.31760DOI Listing
March 2020

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Am J Med Genet A 2020 02 14;182(2):328-337. Epub 2019 Dec 14.

Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.

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http://dx.doi.org/10.1002/ajmg.a.61430DOI Listing
February 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Risk of Stillbirth for Fetuses With Specific Birth Defects.

Obstet Gynecol 2020 01;135(1):133-140

Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, the Harvard T.H. Chan School of Public Health, Harvard University, Harvard Medical School, Harvard University, Brigham and Women's Hospital, Massachusetts General Hospital, and Slone Epidemiology Center at Boston University, Boston, and Atrius Health, Wellesley, Massachusetts; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, and Arkansas Children's Research Institute, Little Rock, Arkansas; Stanford University School of Medicine, Stanford, California; and the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.

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http://dx.doi.org/10.1097/AOG.0000000000003614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033649PMC
January 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Cardiac transplantation in children with Noonan syndrome.

Pediatr Transplant 2019 09 1;23(6):e13535. Epub 2019 Jul 1.

Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado.

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http://dx.doi.org/10.1111/petr.13535DOI Listing
September 2019

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Am J Med Genet A 2019 09 20;179(9):1725-1744. Epub 2019 Jun 20.

Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.61270DOI Listing
September 2019

Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011.

Cardiol Young 2019 Jun 4;29(6):819-827. Epub 2019 Jun 4.

Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention,Atlanta, GA,USA.

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http://dx.doi.org/10.1017/S1047951119000970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6711372PMC
June 2019

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

Am J Med Genet C Semin Med Genet 2019 03 11;181(1):36-42. Epub 2019 Jan 11.

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.c.31671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414237PMC
March 2019

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet 2018 12;178(4):447-457

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31660DOI Listing
December 2018

45,X mosaicism in a population-based biobank: implications for Turner syndrome.

Genet Med 2019 08 21;21(8):1882-1883. Epub 2018 Dec 21.

Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA.

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http://www.nature.com/articles/s41436-018-0411-z
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http://dx.doi.org/10.1038/s41436-018-0411-zDOI Listing
August 2019

An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

Paediatr Perinat Epidemiol 2018 11 9;32(6):545-555. Epub 2018 Oct 9.

Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1111/ppe.12509DOI Listing
November 2018

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Am J Med Genet A 2018 Aug 28;176(8):1703-1705. Epub 2018 Jul 28.

Teratology Unit, Departments of Pediatrics, Pathology and Obstetrics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.38845DOI Listing
August 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics.

Birth Defects Res 2018 01;110(2):148-156

Active Malformations Surveillance Program, Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/bdr2.1156DOI Listing
January 2018

Causes of Congenital Malformations.

Birth Defects Res 2018 01;110(2):87-91

Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.

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http://dx.doi.org/10.1002/bdr2.1105DOI Listing
January 2018

Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program.

Birth Defects Res 2017 Nov 12;109(18):1430-1441. Epub 2017 Sep 12.

Massachusetts Center for Birth Defects Research and Prevention, Massachusetts; Department of Public Health, Boston, Massachusetts.

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http://dx.doi.org/10.1002/bdr2.1112DOI Listing
November 2017

Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year.

Birth Defects Res 2018 01 10;110(2):142-147. Epub 2017 Aug 10.

Active Malformations Surveillance Program, Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/bdr2.1096DOI Listing
January 2018

Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births.

Birth Defects Res 2017 Aug 21;109(14):1144-1153. Epub 2017 Jun 21.

Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/bdr2.1055
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http://dx.doi.org/10.1002/bdr2.1055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555800PMC
August 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

Am J Med Genet A 2017 Jul 26;173(7):1988-1991. Epub 2017 Apr 26.

Medical Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38203DOI Listing
July 2017

Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.

Hypertension 2017 05 3;69(5):798-805. Epub 2017 Apr 3.

From the Congenital Malformations Registry, New York State Department of Health, Albany (S.C.F., A.R.V.Z., C.M.D., M.L.B.); Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, NY (A.R.V.Z., C.M.D., M.L.B.); Department of Epidemiology, School of Public Health, Boston University, MA (M.M.W.); Genetics Unit, MassGeneral Hospital for Children, Boston, MA (A.E.L.); Massachusetts Department of Public Health, Massachusetts Center for Birth Defects Prevention, Boston (A.E.L.); and Department of Epidemiology, College of Public Health, University of Iowa, Iowa City (P.A.R.).

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https://www.ahajournals.org/doi/10.1161/HYPERTENSIONAHA.116.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.116.08773DOI Listing
May 2017

Case 7-2017. A 73-Year-Old Man with Confusion and Recurrent Epistaxis.

N Engl J Med 2017 03;376(10):972-980

From the Department of Internal Medicine, Yale School of Medicine, New Haven, CT (R.L.F.); and the Departments of Medicine (J.L.G.), Radiology (S.M.), Pediatrics (A.E.L.), and Pathology (J.R.S.), Massachusetts General Hospital, and the Departments of Medicine (J.L.G.), Radiology (S.M.), Pediatrics (A.E.L.), and Pathology (J.R.S.), Harvard Medical School - both in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1613462DOI Listing
March 2017

Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure.

N Engl J Med 2017 02;376(6):562-574

From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.

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http://www.nejm.org/doi/10.1056/NEJMcpc1613465
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http://dx.doi.org/10.1056/NEJMcpc1613465DOI Listing
February 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.

N Engl J Med 2016 11;375(19):1879-1890

From the Departments of Pediatrics (D.A.S., A.E.L.), Oral and Maxillofacial Surgery (M.J.T.), and Radiology (S.J.W.), Massachusetts General Hospital, the Departments of Pediatrics (D.A.S., A.E.L.), Ophthalmology (T.C.C.), and Radiology (S.J.W.), Harvard Medical School, the Department of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine (M.J.T.), and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary (T.C.C.) - all in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1610096DOI Listing
November 2016

Impact of elective termination on the occurrence of severe birth defects identified in a hospital-based active malformations surveillance program (1999 to 2002).

Birth Defects Res A Clin Mol Teratol 2016 Aug 26;106(8):659-66. Epub 2016 Apr 26.

Active Malformations Surveillance Program, Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/bdra.23510DOI Listing
August 2016

Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology.

Fertil Steril 2016 Jun 13;105(6):1446-8. Epub 2016 Feb 13.

Geisel School of Medicine, Dartmouth Medical School, Hanover, New Hampshire.

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http://dx.doi.org/10.1016/j.fertnstert.2016.01.042DOI Listing
June 2016

The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

Authors:
Angela E Lin

J Oral Maxillofac Surg 2015 Dec;73(12 Suppl):S13-6

Clinical Professor, Department of Pediatrics, Harvard Medical School, Boston; Genetics Unit, Massachusetts General Hospital for Children, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.joms.2015.04.014DOI Listing
December 2015

Maternal asthma medication use during pregnancy and risk of congenital heart defects.

Birth Defects Res A Clin Mol Teratol 2015 Nov 26;103(11):951-61. Epub 2015 Sep 26.

University at Albany School of Public Health, One University Place, Rensselaer, New York.

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http://dx.doi.org/10.1002/bdra.23437DOI Listing
November 2015

Maternal periconceptional alcohol consumption and congenital heart defects.

Birth Defects Res A Clin Mol Teratol 2015 Jul 27;103(7):617-29. Epub 2015 Jun 27.

New York State Department of Health, Albany, New York.

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http://dx.doi.org/10.1002/bdra.23352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668305PMC
July 2015

Turner syndrome: update on biology and management across the life span.

Curr Opin Endocrinol Diabetes Obes 2015 Feb;22(1):65-72

aPediatric Endocrine Unit, Department of Pediatrics, Massachusetts General Hospital bGenetics Residency Program, Harvard Medical School cBoston Children's Hospital dReproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital eGenetics Unit, Mass General Hospital for Children, Massachusetts, Boston, USA.

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http://dx.doi.org/10.1097/MED.0000000000000128DOI Listing
February 2015

Aortic dilatation with bicuspid aortic valve.

N Engl J Med 2014 Aug;371(7):683

MassGeneral Hospital for Children, Boston, MA

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http://dx.doi.org/10.1056/NEJMc1407391DOI Listing
August 2014

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

Am J Med Genet A 2014 Oct 6;164A(10):2581-91. Epub 2014 Aug 6.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts; Massachusetts Center for Birth Defects Research and Prevention, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462240PMC
October 2014

Delayed diagnosis of critical congenital heart defects: trends and associated factors.

Pediatrics 2014 Aug;134(2):e373-81

Massachusetts Department of Public Health, Boston, Massachusetts;

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http://dx.doi.org/10.1542/peds.2013-3949DOI Listing
August 2014

Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

Eur J Med Genet 2014 May-Jun;57(6):269-74. Epub 2014 Mar 25.

Medical Genetics Unit, MassGeneral Hospital for Children, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.005DOI Listing
February 2015

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome.

Res Dev Disabil 2013 Oct 26;34(10):3276-87. Epub 2013 Jul 26.

Department of Community Health Sciences, Boston University School of Public Health, 801 Massachusetts Avenue, 4th Floor, Boston, MA 02118, USA; Center for Education and Human Services, Education Division, SRI International, 333 Ravenswood Avenue, Menlo Park, CA 94025, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2013.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453874PMC
October 2013

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Genet Med 2012 Mar;14(3):285-92

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

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http://www.nature.com/articles/gim0b013e31822dd91f
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http://dx.doi.org/10.1038/gim.0b013e31822dd91fDOI Listing
March 2012

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Am J Med Genet A 2011 Sep 10;155A(9):2105-11. Epub 2011 Aug 10.

Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School Genetics Training Program, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34156DOI Listing
September 2011

An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.

Am J Med Genet A 2011 Apr 15;155A(4):748-56. Epub 2011 Mar 15.

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33934DOI Listing
April 2011

Case records of the Massachusetts General Hospital. Case 11-2011. A 47-year-old man with systemic lupus erythematosus and heart failure.

N Engl J Med 2011 Apr;364(15):1450-60

Cardiovascular Research Center, and Division of Cardiology, Massachusetts General Hospital, Boston, USA.

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http://www.nejm.org/doi/10.1056/NEJMcpc1011319
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http://dx.doi.org/10.1056/NEJMcpc1011319DOI Listing
April 2011

Aortic dissection and moyamoya disease in Turner syndrome.

Am J Med Genet A 2010 Aug;152A(8):2085-9

Division of Cardiac Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33539DOI Listing
August 2010

Living with Costello syndrome: quality of life issues in older individuals.

Am J Med Genet A 2010 Jan;152A(1):84-90

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Nemours' Children's Clinic, 1600 Rockland Rd., Wilmington, DE 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.33147DOI Listing
January 2010

Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome.

J Craniofac Surg 2009 Mar;20 Suppl 1:608-11

Genetics Unit, MassGeneral Hospital for Children, USA.

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http://dx.doi.org/10.1097/scs.0b013e3181927fb6DOI Listing
March 2009

Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.

Am J Med Genet A 2009 Jun;149A(6):1241-8

Massachusetts Department of Public Health, Massachusetts Center for Birth Defects Research and Prevention, Boston, MA 02108, USA.

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http://dx.doi.org/10.1002/ajmg.a.32685DOI Listing
June 2009

Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):69-75

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/bdra.20548DOI Listing
January 2009

Turner syndrome is an independent risk factor for aortic dilation in the young.

Pediatrics 2008 Jun 26;121(6):e1622-7. Epub 2008 May 26.

Children's Hospital at Montefiore, Division of Pediatric Cardiology, 3415 Bainbridge Ave, Rosenthal 3, Bronx, NY 10467, USA.

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http://pediatrics.aappublications.org/content/pediatrics/121
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2007-2807DOI Listing
June 2008

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Am J Med Genet A 2008 May;146A(9):1218-20

Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32273DOI Listing
May 2008

Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.

Am J Med Genet A 2007 Dec;143A(24):3127-36

Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32100
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December 2007

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.

Birth Defects Res A Clin Mol Teratol 2007 Oct;79(10):714-27

Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/bdra.20403DOI Listing
October 2007

First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects.

N Engl J Med 2007 Jun;356(26):2675-83

Slone Epidemiology Center at Boston University, Boston, MA 02215, USA.

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http://dx.doi.org/10.1056/NEJMoa067407DOI Listing
June 2007

Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.

Am J Med Genet C Semin Med Genet 2007 May;145C(2):201-16

Genetics Unit, MassGeneral Hospital for Children, Boston, MA 02114, USA.

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http://dx.doi.org/10.1002/ajmg.c.30131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891735PMC
May 2007

Maternal caffeine consumption and risk of cardiovascular malformations.

Birth Defects Res A Clin Mol Teratol 2007 Jul;79(7):533-43

Bureau of Environmental & Occupational Epidemiology, New York State Department of Health, Troy, New York, USA.

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http://dx.doi.org/10.1002/bdra.20365DOI Listing
July 2007

Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network.

Birth Defects Res A Clin Mol Teratol 2006 Nov;76(11):781-6

Genetics and Teratology Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/bdra.20282DOI Listing
November 2006

Writing for scientific publication: tips for getting started.

Authors:
Angela E Lin

Clin Pediatr (Phila) 2006 May;45(4):295-300

Genetics and Teratology Unit, MassGeneral Hospital for Children, Department of Pediatrics, Harvard Medical School, Boston, MA 02114, USA.

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http://journals.sagepub.com/doi/10.1177/000992280604500401
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May 2006