Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Author:

Pérez Millán María I.1,Vishnopolska Sebastian A.2,Daly Alexandre Z.3,Bustamante Juan P.2,Seilicovich Adriana1,Bergadá Ignacio4,Braslavsky Débora4,Keselman Ana C.4,Lemons Rosemary M.3,Mortensen Amanda H.3,Marti Marcelo A.2,Camper Sally A.3ORCID,Kitzman Jacob O.3

Affiliation:

1. Institute of Biomedical Investigations (INBIOMED-UBA-CONICET); University of Buenos Aires; Buenos Aires Argentina

2. Department of Biological Chemistry (IQUIBICEN-UBA-CONICET); Faculty of Exact and Natural Sciences; University of Buenos Aires; Buenos Aires Argentina

3. Department of Human Genetics; University of Michigan; Ann Arbor MI USA

4. División de Endocrinología; Hospital de Niños Ricardo Gutiérrez; Centro de Investigaciones Endocrinológicas ‘Dr César Bergadá’ (CEDIE) CONICET - FEI; Buenos Aires Argentina

Funder

University of Michigan Genomics Initiative to JOK

National Institutes of Health Genetics Predoctoral Training Program

National Institutes of Health Genome Sciences Predoctoral Training Program

Argentinean National Agency of Scientific and Technical Promotion

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference101 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Current Protocols in Human Genetics,2013

2. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion;Agarwal;Journal of Clinical Endocrinology and Metabolism,2000

3. Genetic causes and treatment of isolated growth hormone deficiency-an update;Alatzoglou;Nature Reviews Endocrinology,2010

4. Expanding the spectrum of mutations in GH1 and GHRHR: Genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency;Alatzoglou;The Journal of Clinical Endocrinology and Metabolism,2009

5. Role of GLI2 in hypopituitarism phenotype;Arnhold;Journal of Molecular Endocrinology,2015

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