Publications by authors named "Paul Kruszka"

68Publications

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Birth Defects Res 2020 Oct 28. Epub 2020 Oct 28.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/bdr2.1834DOI Listing
October 2020

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

Authors:
Paul Kruszka

Brain 2020 Aug;143(8):e65

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1093/brain/awaa177DOI Listing
August 2020

Noonan syndrome on the African Continent.

Birth Defects Res 2020 Jun;112(10):718-724

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1002/bdr2.1675DOI Listing
June 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Environ Health 2020 06 8;19(1):65. Epub 2020 Jun 8.

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

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http://dx.doi.org/10.1186/s12940-020-00611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278164PMC
June 2020

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.

Stem Cell Res 2020 07 19;46:101823. Epub 2020 May 19.

Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.101823DOI Listing
July 2020

The state of congenital heart disease.

Am J Med Genet C Semin Med Genet 2020 03 21;184(1):5-6. Epub 2020 Feb 21.

Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.c.31776DOI Listing
March 2020

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.

Am J Med Genet C Semin Med Genet 2020 03 6;184(1):124-128. Epub 2020 Feb 6.

Science and Mathematics Department, U.S. Naval Academy, Annapolis, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31772DOI Listing
March 2020

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.

Am J Med Genet C Semin Med Genet 2020 03 5;184(1):154-158. Epub 2020 Feb 5.

Medical Genetics Branch, National Human Genome Research Institutes, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31770DOI Listing
March 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

The genetic workup for structural congenital heart disease.

Am J Med Genet C Semin Med Genet 2020 03 13;184(1):178-186. Epub 2019 Dec 13.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31759DOI Listing
March 2020

Diversity and dysmorphology.

Curr Opin Pediatr 2019 12;31(6):702-707

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

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http://dx.doi.org/10.1097/MOP.0000000000000816DOI Listing
December 2019

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

Birth Defects Res 2019 11 18;111(19):1584-1588. Epub 2019 Oct 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdr2.1609DOI Listing
November 2019

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Clin Genet 2019 09 15;96(3):266-270. Epub 2019 Jul 15.

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

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http://dx.doi.org/10.1111/cge.13598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690755PMC
September 2019

Tuberous sclerosis in a patient from Nigeria.

Am J Med Genet A 2019 08 29;179(8):1423-1425. Epub 2019 May 29.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61194DOI Listing
August 2019

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Am J Hum Genet 2019 05 18;104(5):990-993. Epub 2019 Apr 18.

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

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http://dx.doi.org/10.1016/j.ajhg.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506867PMC
May 2019

The state of Turner syndrome science: Are we on the threshold of discovery?

Am J Med Genet C Semin Med Genet 2019 03 20;181(1):4-6. Epub 2019 Feb 20.

Division of Pediatric Cardiology, Department of Pediatrics, Oregon Health & Science University, Portland, Oregon.

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http://dx.doi.org/10.1002/ajmg.c.31688DOI Listing
March 2019

Inborn Errors of Metabolism: From Preconception to Adulthood.

Am Fam Physician 2019 01;99(1):25-32

Children's National Rare Disease Institute, Children's National Health System, Washington, DC, USA.

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January 2019

Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.

Birth Defects Res 2018 10 19;110(16):1233-1240. Epub 2018 Sep 19.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdr2.1361DOI Listing
October 2018

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Genet Med 2019 04 10;21(4):1015-1020. Epub 2018 Sep 10.

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

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http://www.nature.com/articles/s41436-018-0261-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0261-8DOI Listing
April 2019

Holoprosencephaly from conception to adulthood.

Am J Med Genet C Semin Med Genet 2018 06;178(2):122-127

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31624DOI Listing
June 2018

Holoprosencephaly flashcards: An updated summary for the clinician.

Am J Med Genet C Semin Med Genet 2018 06;178(2):117-121

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31621DOI Listing
June 2018

Introduction.

Am J Med Genet C Semin Med Genet 2018 06;178(2):113-116

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31626DOI Listing
June 2018

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):175-186

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127867PMC
June 2018

Challenging issues arising in counseling families experiencing holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):238-245

Human Development Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31627DOI Listing
June 2018

Molecular testing in holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):187-193. Epub 2018 May 17.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125165PMC
June 2018

Syndromes associated with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):229-237. Epub 2018 May 17.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125175PMC
June 2018

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

OMICS 2018 05;22(5):301-321

1 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, Institute for Infectious Disease and Molecular Medicine, University of Cape Town , Cape Town, South Africa .

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http://dx.doi.org/10.1089/omi.2018.0033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016577PMC
May 2018

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 15;178(2):246-257. Epub 2018 May 15.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125181PMC
June 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

Anat Rec (Hoboken) 2018 06 16;301(6):973-986. Epub 2018 Apr 16.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ar.23791DOI Listing
June 2018

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Congenit Anom (Kyoto) 2018 Jan 1;58(1):29-32. Epub 2017 Aug 1.

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

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http://dx.doi.org/10.1111/cga.12234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750110PMC
January 2018

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

J Clin Endocrinol Metab 2017 05;102(5):1529-1537

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

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http://dx.doi.org/10.1210/jc.2016-3414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443329PMC
May 2017

KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts.

Mil Med 2017 03;182(3):e1795-e1800

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Room 1B207, Bethesda, MD 20894.

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http://dx.doi.org/10.7205/MILMED-D-16-00184DOI Listing
March 2017

An electronic atlas of human malformation syndromes in diverse populations.

Genet Med 2016 11 3;18(11):1085-1087. Epub 2016 Mar 3.

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

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http://dx.doi.org/10.1038/gim.2016.3DOI Listing
November 2016

Muenke syndrome: An international multicenter natural history study.

Am J Med Genet A 2016 Apr 6;170A(4):918-29. Epub 2016 Jan 6.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37528DOI Listing
April 2016

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Am J Med Genet A 2015 Nov 6;167A(11):2657-63. Epub 2015 Aug 6.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37259DOI Listing
November 2015

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

J Craniofac Surg 2015 Jan;26(1):3-5

From the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/SCS.0000000000001377DOI Listing
January 2015

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.

Mol Genet Metab Rep 2014 22;1:237-240. Epub 2014 May 22.

Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121296PMC
May 2014

Rheumatic heart disease in Uganda: the association between MHC class II HLA DR alleles and disease: a case control study.

BMC Cardiovasc Disord 2014 Feb 28;14:28. Epub 2014 Feb 28.

Department of Medicine, Makerere University/Uganda Heart Institute, Ward 1C, Mulago Hospital Complex,, PO Box 7051, Kampala, Uganda.

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http://dx.doi.org/10.1186/1471-2261-14-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943278PMC
February 2014

Renal growth in isolated methylmalonic acidemia.

Genet Med 2013 Dec 2;15(12):990-6. Epub 2013 May 2.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2013.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149057PMC
December 2013

Evaluation of acute pelvic pain in women.

Am Fam Physician 2010 Jul;82(2):141-7

U.S. Coast Guard Yard Clinic, Baltimore, MD, USA.

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July 2010

Diagnosis and management of Sjögren syndrome.

Am Fam Physician 2009 Mar;79(6):465-70

U.S. Coast Guard Yard, Baltimore, Maryland, USA.

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March 2009

Clinical inquiries. What is the differential diagnosis of chronic diarrhea in immunocompetent patients?

J Fam Pract 2002 Mar;51(3):212

Westside Health, Inc, Wilmington, Delaware, USA.

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March 2002