Publications by authors named "Joshi Stephen"

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Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.
Julia Grafstein, Yuka Aoyama, Rena Godfrey, Colleen Howe, Joshi Stephen

Rare· October 2025

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A -variant reveals a Pol III transcriptome response dependent on La protein/SSB.
Sandy Mattijssen, Kyra Kerkhofs, Joshi Stephen, Acong Yang, Chen G Han

bioRxiv· February 2024

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell

Front Genet· March 2023

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Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Puneeth H Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere

Clin Genet· April 2021

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Diagnosis of Chediak Higashi disease in a 67-year old woman.
David S Yarnell, Joseph C Roney, Cláudia Teixeira, Maria I Freitas, Ana Cipriano, Joshi Stephen

Am J Med Genet A· December 2020

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Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.
Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Joshi Stephen

Dis Model Mech· May 2020

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Bradley Power, Carlos R Ferreira, Dong Chen, Wadih M Zein, Kevin J O'Brien, Joshi Stephen

Orphanet J Rare Dis· February 2019

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Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
Joshi Stephen, Sheela Nampoothiri, Srikar Kuppa, Dhanya Yesodharan, Natasha Radhakrishnan

Am J Med Genet A· December 2018

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D Burke, Matthew Herzog

Am J Hum Genet· December 2018

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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh

BMC Med Genet· May 2018

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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Joshi Stephen, Sheela Nampoothiri, Aditi Banerjee, Nathanial J Tolman, Josef Martin Penninger

Hum Genet· April 2018

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli

PLoS One· September 2017

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Identification of an element-mediated deletion in the promoter region of in siblings with GNE myopathy.
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone

Mol Genet Genomic Med· July 2017

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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair

Hum Genet· April 2017

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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen

Am J Med Genet A· March 2017

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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Ortal Barel, May Christine V Malicdan, Bruria Ben-Zeev, Judith Kandel, Hadass Pri-Chen, Joshi Stephen

Brain· March 2017

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Biallelic mutations in neuromuscular disease and epileptic encephalopathy.
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen

Ann Clin Transl Neurol· January 2017

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TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Dino Maglic, Joshi Stephen, May Christine V Malicdan, Jennifer Guo, Roxanne Fischer

Hum Mutat· November 2016

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Unusual skin manifestations in a patient with menkes disease.
Divya Gupta, Raghavendra Rao, Katta M Girisha, Joshi Stephen, Shubha R Phadke

Am J Med Genet A· November 2016

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Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
Dhanya Lakshmi Narayanan, Anju Shukla, Anju Rani Siddesh, Joshi Stephen, Priyanka Srivastava

Indian J Pediatr· September 2016

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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri-Chen, Ben Pode-Shakked

Eur J Hum Genet· August 2016

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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen

J Med Genet· May 2016

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Consanguinity as an Adjunct Diagnostic Tool.
Priyanka Srivastava, Deepti Saxena, Stephen Joshi, Shubha R Phadke

Indian J Pediatr· March 2016

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Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta.
Prajnya Ranganath, Joshi Stephen, Raju Iyengar, Shubha R Phadke

Indian Pediatr· March 2016

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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian

J Med Genet· December 2015

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