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rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

Human mutation, 2010-10, Vol.31 (10), p.E1767-E1771

2010

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First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1236-1241

2021

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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2015-11, Vol.10 (11), p.e0142154-e0142154

2015

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Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63481-n/a

2024

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A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Human genetics, 2019-10, Vol.138 (10), p.1071-1075

2019

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Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Scientific reports, 2023-10, Vol.13 (1), p.17010-17010, Article 17010

2023

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Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1044-1049

2023

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Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63563-n/a

2024

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Journal of molecular medicine (Berlin, Germany), 2018-11, Vol.96 (11), p.1227-1238

2018

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Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

Astım allerji immünoloji, 2016-09

2016

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Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PloS one, 2018-11, Vol.13 (11), p.e0208324-e0208324

2018

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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Clinical genetics, 2019-12, Vol.96 (6), p.575-578

2019

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FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Proceedings of the National Academy of Sciences - PNAS, 2014-07, Vol.111 (27), p.9864-9868

2014

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A founder noncoding GALT variant interfering with splicing causes galactosemia

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1199-1204

2020

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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Human genetics, 2018-07, Vol.137 (6-7), p.479-486

2018

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ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Proceedings of the National Academy of Sciences - PNAS, 2016-05, Vol.113 (21), p.5993-5998

2016

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Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma

Turkish journal of haematology, 2012-06, Vol.29 (2), p.135-142

2012

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C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Annals of human genetics, 2013-09, Vol.77 (5), p.351-363

2013

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Dispersed DNA variants underlie hearing loss in South Florida's minority population

Human genomics, 2023-11, Vol.17 (1), p.103-103, Article 103

2023

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P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

Genetics in Medicine Open, 2024, Vol.2, p.101352, Article 101352

2024

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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

Genetics in Medicine Open, 2024, Vol.2, p.101018, Article 101018

2024

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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.128-128, Article 128

2015

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Radixin modulates the function of outer hair cell stereocilia

Communications biology, 2020-12, Vol.3 (1), p.792-792, Article 792

2020

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Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

PloS one, 2011-02, Vol.6 (2), p.e16917-e16917

2011

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rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

A founder noncoding GALT variant interfering with splicing causes galactosemia

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma

C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Dispersed DNA variants underlie hearing loss in South Florida's minority population

P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Radixin modulates the function of outer hair cell stereocilia

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

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