Publications by authors named "Catherine Nowak"

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Catherine Bearce Nowak

Eur J Hum Genet· August 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Catherine Bearce Nowak

Eur J Hum Genet· August 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Catherine Nowak

J Clin Invest· January 2024

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Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Linda M Reis, David J Amor, Raad A Haddad, Catherine B Nowak, Kim M Keppler-Noreuil

Genes (Basel)· October 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Catherine Nowak

Am J Med Genet A· July 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Catherine B Nowak

Am J Hum Genet· February 2023

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Erratum: Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Catherine Nowak

HGG Adv· January 2023

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Catherine B Nowak

Genet Med· September 2022

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Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Catherine Nowak

HGG Adv· July 2022

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Highlighting the Dystonic Phenotype Related to GNAO1.
Thomas Wirth, Giacomo Garone, Manju A Kurian, Amélie Piton, Francisca Millan, Catherine Nowak

Mov Disord· July 2022

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, , Catherine Nowak

Am J Hum Genet· April 2022

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Catherine B Nowak

Genet Med· December 2021

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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Brian J Shayota, Taraka R Donti, Jing Xiao, Charul Gijavanekar, Adam D Kennedy, Catherine Nowak

Mol Genet Metab· June 2021

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Catherine Nowak

Am J Med Genet A· June 2021

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Catherine B Nowak

Genet Med· April 2021

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Catherine Nowak

Am J Hum Genet· December 2020

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Why skin is so important for Baha Attract success: A preliminary analysis of the first 20 implantations.
Jerome Nevoux, Marc Boulet, Catherine Nowak, Christine Le Pajolec, Cyrille Coudert

Clin Otolaryngol· May 2019

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Catherine B Nowak

Nat Commun· May 2019

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Catherine B Nowak

Nat Commun· February 2019

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Ina Schanze, Jens Bunt, Jonathan W C Lim, Denny Schanze, Ryan J Dean, Catherine Nowak

Am J Hum Genet· November 2018

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Catherine B Nowak

Nat Commun· November 2018

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Catherine Bearce Nowak

Hum Mutat· August 2018

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Alireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, Christopher A Cassa, Natasha Y Frank, Catherine B Nowak

NPJ Genom Med· August 2018

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[The infections of the ear].
Catherine Nowak, Lei Tanaka, Serge Bobin, Jérôme Nevoux

Presse Med· November 2017

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Catherine B Nowak

Am J Hum Genet· November 2017

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