Publications by authors named "Naomi Yachelevich"

11Publications

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.

Mol Genet Genomic Med 2020 Jul 21:e1405. Epub 2020 Jul 21.

Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1002/mgg3.1405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549584PMC
July 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

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

Generalized overgrowth syndromes with prenatal onset.

Curr Probl Pediatr Adolesc Health Care 2015 Apr 7;45(4):97-111. Epub 2015 Apr 7.

Clinical Genetics Services, New York University Hospitals Center, New York, NY. Electronic address:

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http://dx.doi.org/10.1016/j.cppeds.2015.02.005DOI Listing
April 2015

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series.

Am J Med Genet A 2011 Apr 15;155A(4):870-4. Epub 2011 Mar 15.

The Center for Congenital Disorders, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.33936DOI Listing
April 2011

Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature.

Am J Med Genet A 2010 Jan;152A(1):203-8

The Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.33159DOI Listing
January 2010