List of works - Robert J. Morell

A Grhl2-dependent gene network controls trophoblast branching morphogenesis

scientific journal article

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

scientific article published on 13 February 2008

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

scientific article published on 4 May 2015

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

scientific article

A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.

scientific article

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

scientific journal article

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3 ⬇️

scientific article published on May 29, 1998

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

scientific article

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

scientific article

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography

scientific article

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

scientific article published on May 1998

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

scientific article published on January 2010

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

scientific article

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

scientific article

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

scientific article

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

scientific article

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

scientific article published on 24 September 2020

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

scientific article

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

scientific article

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

scientific article

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

scientific article published on 24 July 2002

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

scientific article

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

scientific article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

scientific article published on 10 June 2011

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

scientific article

Mutations of MYO6 are associated with recessive deafness, DFNB37

scientific article

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

scientific article

Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear.

scientific article

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

scientific journal article

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

scientific article

Tectorin-beta (Tectb) maps to mouse chromosome 19

scientific article published on 01 November 1998

The Transcription Factors Grainyhead-like 2 and NK2-Homeobox 1 Form a Regulatory Loop That Coordinates Lung Epithelial Cell Morphogenesis and Differentiation ⬇️

scientific article published on September 6, 2012

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

scientific article published on 01 May 2019

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

List of works by Robert J. Morell

A Grhl2-dependent gene network controls trophoblast branching morphogenesis

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3 ⬇️

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Mutations of MYO6 are associated with recessive deafness, DFNB37

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear.

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

Tectorin-beta (Tectb) maps to mouse chromosome 19

The Transcription Factors Grainyhead-like 2 and NK2-Homeobox 1 Form a Regulatory Loop That Coordinates Lung Epithelial Cell Morphogenesis and Differentiation ⬇️

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy