Avni Santani

Avni Santani

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Avni Santani

Avni Santani

Publications by authors named "Avni Santani"

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Muenke syndrome: Medical and surgical comorbidities and long-term management.

Am J Med Genet A 2019 Aug 20;179(8):1442-1450. Epub 2019 May 20.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61199
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http://dx.doi.org/10.1002/ajmg.a.61199DOI Listing
August 2019

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

J Mol Diagn 2019 May 31;21(3):369-374. Epub 2018 Dec 31.

Veritas Genetics, Danvers, Massachusetts; Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.11.004DOI Listing
May 2019

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Genet Med 2018 12 29;20(12):1600-1608. Epub 2018 Mar 29.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2018.48DOI Listing
December 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

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Genet Med 2017 06 20;19(6):715-718. Epub 2016 Oct 20.

Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095193PMC
June 2017

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Arch Pathol Lab Med 2017 Jun 21;141(6):787-797. Epub 2017 Mar 21.

From the Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Drs Santani, Murrell, and Yu); the Department of Pathology, MGH/Harvard Medical School, Boston, Massachusetts (Dr Funke); the Laboratory for Molecular Medicine at Partners HealthCare, Personalized Medicine, Cambridge, Massachusetts (Dr Funke); the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology (Dr Mao) and the Department of Pathology (Dr Voelkerding), University of Utah School of Medicine, Salt Lake City; the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); Genomics and Bioinformatics, ARUP Laboratories, Salt Lake City, Utah (Dr Voelkerding); and the Department of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0517-RADOI Listing
June 2017

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Arch Pathol Lab Med 2017 Jun 31;141(6):798-805. Epub 2017 Mar 31.

From the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Santani); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology, and University of Utah School of Medicine, Salt Lake City (Drs Mao and Voelkerding); the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); and the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0622-RADOI Listing
June 2017

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in .

Neurol Genet 2017 Feb 1;3(1):e130. Epub 2017 Feb 1.

Section of Biochemical Genetics (R.C.A.-N., N.S.), Division of Human Genetics (R.C.A.-N., M.A.D., A.B.W.), Department of Pathology and Laboratory Medicine (L.K.C., A.B.S., A.N.), Division of Child Neurology (E.D.M.), Children's Hospital of Philadelphia, PA; Department of Pediatrics (R.C.A.-N., N.S., M.A.D., E.D.M.) and Department of Neurology (E.D.M.), Perelman School of Medicine, and Department of Clinical Pathology (L.K.C., A.B.S.), University of Pennsylvania, Philadelphia; GeneDx (J.J.), Gaithersburg, MD; Neuroregeneration and Stem Cell Programs (G.K.E.U., T.M.D., V.L.D.), Institute for Cell Engineering; Departments of Neurology (G.K.E.U., T.M.D.), Solomon H. Snyder Department of Neuroscience (T.M.D., V.L.D.), Pharmacology and Molecular Sciences (T.M.D., V.L.D.), Physiology (V.L.D.), and Public Health (E.M.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017PMC
February 2017

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Genet Med 2016 12 26;18(12):1282-1289. Epub 2016 May 26.

Partners HealthCare Personalized Medicine, Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.58DOI Listing
December 2016

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Orphanet J Rare Dis 2016 Sep 29;11(1):130. Epub 2016 Sep 29.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579PMC
http://dx.doi.org/10.1186/s13023-016-0509-9DOI Listing
September 2016

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

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http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.

PLoS One 2014 24;9(7):e103491. Epub 2014 Jul 24.

Division of Genomic Diagnostics and Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103491PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110027PMC
November 2015

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Am J Med Genet A 2015 Nov 25;167A(11):2548-54. Epub 2015 Jun 25.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37221DOI Listing
November 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Am J Med Genet A 2013 Jan 7;161A(1):166-71. Epub 2012 Dec 7.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35625DOI Listing
January 2013

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Mol Genet Metab 2010 Oct-Nov;101(2-3):238-45. Epub 2010 Jul 8.

Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996613PMC
January 2011

Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome.

Am J Med Genet A 2009 Mar;149A(3):549-51

Department of Medicine, Brookwood Medical Center, Birmingham, Alabama 35209, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32698
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http://dx.doi.org/10.1002/ajmg.a.32698DOI Listing
March 2009

A detailed physical map of the horse Y chromosome.

Proc Natl Acad Sci U S A 2004 Jun 14;101(25):9321-6. Epub 2004 Jun 14.

Department of Veterinary Anatomy and Public Health, Texas A&M University, College Station, 77843, USA.

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http://www.pnas.org/content/101/25/9321.full.pdf
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http://www.pnas.org/cgi/doi/10.1073/pnas.0403011101
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http://dx.doi.org/10.1073/pnas.0403011101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC438975PMC
June 2004

Interstitial telomeric sites and NORs in Hartmann's zebra (Equus zebra hartmannae) chromosomes.

Chromosome Res 2002 ;10(7):527-34

Department of Veterinary Anatomy and Public Health, College of Veterinary Medicine, Texas A&M University, College Station TX 77843, USA.

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June 2003