Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism (Q88605919)

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scientific article published on 08 May 2018

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English	Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism	scientific article published on 08 May 2018

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26 March 2020

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

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26 March 2020

Alexandre Z Daly

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26 March 2020

Juan P. Bustamante

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26 March 2020

Sally A. Camper

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26 March 2020

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María I Pérez Millán

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26 March 2020

Sebastian A Vishnopolska

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26 March 2020

Adriana Seilicovich

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26 March 2020

Ignacio Bergadá

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26 March 2020

Débora Braslavsky

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26 March 2020

Ana C Keselman

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26 March 2020

Rosemary M Lemons

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26 March 2020

Amanda H Mortensen

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26 March 2020

Marcelo A Marti

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26 March 2020

Jacob O Kitzman

13

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26 March 2020

publication date

8 May 2018

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26 March 2020

Molecular genetics & genomic medicine

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26 March 2020

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse Otx2 functions in the formation and patterning of rostral head.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of growth hormone gene defects by dideoxy fingerprinting (ddF)

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic defects in the control of growth hormone secretion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG(183)HIS (R183H) GH-I gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Panhypopituitarism: genetic versus acquired etiological factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Massively parallel exon capture and library-free resequencing across 16 genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

17alpha-hydroxyprogesterone and cortisol serum levels in neonates and young children: influence of age, gestational age, gender and methodological procedures

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic causes and treatment of isolated growth hormone deficiency—an update

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Candidate genes for panhypopituitarism identified by gene expression profiling

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting functional effect of human missense mutations using PolyPhen-2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of OTX2 in neural ectoderm delays anterior pituitary development

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of GLI2 in hypopituitarism phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ClinVar: public archive of interpretations of clinically relevant variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic Insights into the Ancestry and Demographic History of South America

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo genic mutations among a Chinese autism spectrum disorder cohort.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ExAC browser: displaying reference data information from over 60 000 exomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA Testing by Single-Molecule Molecular Inversion Probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

1 reference

https://pubmed.ncbi.nlm.nih.gov/29739035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/MGG3.395

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29739035%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29739035%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29739035%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

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