Publications

Abberant recursive spicing in a human disease locus

PM Boone*, R Harripaul*, R Yadav, M Grzybowski, MK Hanafy, AC Lee, …

bioRxiv, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome

ASE van Oirsouw, MA Hadders, M Koetsier, EDJ Peters, N Assia Batzir, ...

Human Molecular Genetics, 2025

X-linked competition—implications for human development and disease

PM Boone, T Buenaventura, JWD King, M Merkenschlager

Nature Reviews Genetics, 2025

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

Y Mostovoy*, PM Boone*, Y Huang, KV Garimella, KT Tan, BE Russell, ...

The American Journal of Human Genetics, 2024

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

CE French, NC Andrews, AH Beggs, PM Boone, CA Brownstein, ...

NPJ Genomic Medicine, 2024

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ...

Genetics in Medicine, 2024

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

M Ansari, KNW Faour, A Shimamura, G Grimes, EM Kao, ER Denhoff, ...

Human Genetics and Genomics Advances, 2024

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...

The American Journal of Human Genetics, 2023

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies

P Boone, K Faour, K Mohajeri, J Lemanski, B Jana, J Fu, J Kerkhof, ...

Genetics in Medicine Open, 2023

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

K Mohajeri, R Yadav, E D'haene, PM Boone, S Erdin, D Gao, ...

The American Journal of Human Genetics, 2022

A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ...

Cell, 2022

Centers for Mendelian Genomics: A decade of facilitating gene discovery

SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...

Genetics in Medicine, 2022

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ...

Genetics in Medicine, 2020

Free, online videos for distance learning in medical genetics

S Maggipinto, A Chen, D Huynh, O Heutlinger, K Eberenz, S Mallick, ...

European Journal of Medical Genetics, 2020

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

PM Boone, S Paterson, K Mohajeri, W Zhu, CA Genetti, DJC Tai, N Nori, ...

American Journal of Medical Genetics Part A, 2020

The genetics of pneumothorax

PM Boone, RM Scott, SJ Marciniak, EP Henske, BA Raby

American Journal of Respiratory and Critical Care Medicine, 2019

Genetic architecture of laterality defects revealed by whole exome sequencing

AH Li, NA Hanchard, M Azamian, LCA D’Alessandro, Z Coban-Akdemir, ...

European Journal of Human Genetics, 2019

Familial pneumothorax: towards precision medicine

RM Scott, EP Henske, B Raby, PM Boone, RA Rusk, SJ Marciniak

Thorax, 2018

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ...

Nucleic Acids Research, 2017

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...

Journal of Allergy and Clinical Immunology, 2017

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

RA James, IM Campbell, ES Chen, PM Boone, MA Rao, MN Bainbridge, ...

Genome Medicine, 2016

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

PM Boone, YM Chan, JV Hunter, LE Pottkotter, NA Davino, Y Yang, ...

American Journal of Medical Genetics Part A, 2016

Adolescents, family history, and inherited disease risk: An opportunity

PM Boone

Pediatrics, 2016

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

PM Boone, B Yuan, S Gu, Z Ma, T Gambin, C Gonzaga‐Jauregui, M Jain, ...

Molecular Genetics & Genomic Medicine, 2016

Analysis of the ABCA4 genomic locus in Stargardt disease

J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ...

Human Molecular Genetics, 2014

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

J de Ligt, PM Boone, R Pfundt, LELM Vissers, N de Leeuw, C Shaw, ...

Genomics Data, 2014

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

PM Boone, B Yuan, IM Campbell, JC Scull, MA Withers, BC Baggett, ...

The American Journal of Human Genetics, 2014

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Y Okamoto, MT Goksungur, D Pehlivan, CR Beck, C Gonzaga-Jauregui, ...

Genetics in Medicine, 2014

Detection of clinically relevant copy number variants with whole‐exome sequencing

J de Ligt*, PM Boone*, R Pfundt, LELM Vissers, T Richmond, J Geoghegan, ...

Human Mutation, 2013

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

PM Boone, IM Campbell, BC Baggett, ZT Soens, MM Rao, PM Hixson, ...

Genome Research, 2013

Incidental copy-number variants identified by routine genome testing in a clinical population

PM Boone, ZT Soens, IM Campbell, P Stankiewicz, SW Cheung, A Patel, ...

Genetics in Medicine, 2013

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

CP Schaaf, PM Boone, S Sampath, C Williams, PI Bader, JM Mueller, ...

European Journal of Human Genetics, 2012

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

PM Boone, RJ Reiter, DG Glaze, DX Tan, JR Lupski, L Potocki

American Journal of Medical Genetics Part A, 2011

Genomic medicine and neurological disease

PM Boone, W Wiszniewski, JR Lupski

Human Genetics, 2011

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

PM Boone, P Liu, F Zhang, CMB Carvalho, CF Towne, SD Batish, ...

Genetics in Medicine, 2011

Detection of clinically relevant exonic copy‐number changes by array CGH

PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...

Human Mutation, 2010