Publications by authors named "Jane Juusola"

80Publications

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.

Cold Spring Harb Mol Case Stud 2020 Sep 24. Epub 2020 Sep 24.

University of Pennsylvania;

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http://dx.doi.org/10.1101/mcs.a005769DOI Listing
September 2020

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

Am J Med Genet A 2020 04 5;182(4):780-784. Epub 2020 Feb 5.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61498DOI Listing
April 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

Am J Med Genet A 2020 03 12;182(3):548-552. Epub 2019 Dec 12.

Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine, University of Miami, Coral Gables, Florida.

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http://dx.doi.org/10.1002/ajmg.a.61446DOI Listing
March 2020

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Am J Med Genet A 2019 09 11;179(9):1783-1790. Epub 2019 Jul 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61281DOI Listing
September 2019

An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Pediatr Nephrol 2019 11 8;34(11):2327-2329. Epub 2019 May 8.

Atrium Health's Levine Children's Hospital, 1000 Blythe Blvd, Charlotte, NC, 28203, USA.

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http://dx.doi.org/10.1007/s00467-019-04261-3DOI Listing
November 2019

An unusual case of nephrotic syndrome in a microcephalic infant: Questions.

Pediatr Nephrol 2019 11 8;34(11):2325-2326. Epub 2019 May 8.

Atrium Health's Levine Children's Hospital, 1000 Blythe Blvd, Charlotte, NC, 28203, USA.

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http://dx.doi.org/10.1007/s00467-019-04260-4DOI Listing
November 2019

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02011-xDOI Listing
June 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Holoprosencephaly: A clinical genomics perspective.

Am J Med Genet C Semin Med Genet 2018 06 11;178(2):194-197. Epub 2018 May 11.

GeneDx, Gaithersburg, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31613DOI Listing
June 2018

Congenital methemoglobinemia type II in a 5-year-old boy.

Clin Case Rep 2018 01 7;6(1):170-178. Epub 2017 Dec 7.

Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia.

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http://dx.doi.org/10.1002/ccr3.1310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927PMC
January 2018

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

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Am J Med Genet A 2017 Oct 17;173(10):2776-2781. Epub 2017 Aug 17.

Drexel University College of Medicine, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.38379
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http://dx.doi.org/10.1002/ajmg.a.38379DOI Listing
October 2017

The importance of managing the patient and not the gene: expanded phenotype of -associated arthrogryposis.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a002063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701308PMC
November 2017

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

Pediatr Neurol 2017 05 2;70:70-74. Epub 2017 Feb 2.

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.018DOI Listing
May 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

De novo -predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001172

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a001172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111011PMC
November 2016

De novo mutations in PURA are associated with hypotonia and developmental delay.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850890PMC
October 2015

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.

J Biol Chem 2016 Jun 15;291(24):12432-43. Epub 2016 Apr 15.

From the Department of Anatomy and Cell Biology, The University of Western Ontario, London, Ontario N6A 5C1, Canada,

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http://dx.doi.org/10.1074/jbc.M116.717934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4933456PMC
June 2016

Lessons from a pair of siblings with BPAN.

Eur J Hum Genet 2016 07 18;24(7):1080-3. Epub 2015 Nov 18.

Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/ejhg.2015.242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070893PMC
July 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation.

J Mol Diagn 2012 Sep 2;14(5):476-86. Epub 2012 Jul 2.

Division of Molecular Diagnostics, Department of Pathology, Molecular Diagnostics Laboratory, Virginia Commonwealth University, Richmond, Virginia 23298-0248, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152515781200126
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http://dx.doi.org/10.1016/j.jmoldx.2012.03.005DOI Listing
September 2012

Recovery and stability of RNA in vaginal swabs and blood, semen, and saliva stains.

J Forensic Sci 2008 Mar 19;53(2):296-305. Epub 2008 Feb 19.

Graduate Program in Industrial Chemistry Forensic Track, University of Central Florida, Orlando, FL 32816-2366, USA.

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http://dx.doi.org/10.1111/j.1556-4029.2007.00652.xDOI Listing
March 2008

mRNA profiling for body fluid identification by multiplex quantitative RT-PCR.

J Forensic Sci 2007 Nov 15;52(6):1252-62. Epub 2007 Sep 15.

Graduate Program in Biomolecular Sciences, University of Central Florida, Orlando, FL, 32816-2366, USA.

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http://dx.doi.org/10.1111/j.1556-4029.2007.00550.xDOI Listing
November 2007

Multiplex mRNA profiling for the identification of body fluids.

Forensic Sci Int 2005 Aug;152(1):1-12

Graduate Program in Biomolecular Sciences, University of Central Florida, P.O. Box 162366, Orlando, FL 32816-2366, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03790738050013
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http://dx.doi.org/10.1016/j.forsciint.2005.02.020DOI Listing
August 2005

An mRNA and DNA co-isolation method for forensic casework samples.

Anal Biochem 2004 Dec;335(2):289-98

Graduate Program in Biomolecular Science, University of Central Florida, P.O. Box 162366, Orlando, FL 32816, USA.

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http://dx.doi.org/10.1016/j.ab.2004.09.002DOI Listing
December 2004

Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification.

Forensic Sci Int 2003 Aug;135(2):85-96

Graduate Program in Biomolecular Science, University of Central Florida, PO Box 162366, Orlando, FL 32816-2366, USA.

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http://search.proquest.com/openview/586ff1d4956e919562e29bf2
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http://dx.doi.org/10.1016/s0379-0738(03)00197-xDOI Listing
August 2003