W. Bi

P. Stankiewicz, Ankita Patel, Yiping Shen, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

I1: Molecular mechanisms for rearrangements and their conveyed phenotypes in genomic disorders

P. Stankiewicz, J. Lupski, W. Bi, 2005 .

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.

S. Lalani, W. Bi, A. Adesina, 2019, European journal of medical genetics.

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Vicky L Brandt, Kimara L. Targoff, J. Rosenfeld, 2023, Science advances.

R. Ghosh, P. Tanpaiboon, A. Antonellis, 2020, American journal of medical genetics. Part A.

Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

J. Lupski, W. Bi, M. O’Driscoll, 2011, PLoS genetics.

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

P. Ward, M. Braun, W. Bi, 2023, Clinical case reports.

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

J. Rosenfeld, L. Shaffer, D. Chitayat, 2010, American journal of medical genetics. Part A.

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Yaping Yang, M. Leduc, C. Eng, 2018, Human Genetics.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

P. Stankiewicz, C. Shaw, Yaping Yang, 2019, Genome Medicine.

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

M. Talkowski, Philip M Boone, W. Bi, 2019, American journal of medical genetics. Part A.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Andrew J. Oler, E. Karlins, J. Lyons, 2023, Frontiers in Immunology.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

R. Gibbs, D. Muzny, I. Glass, 2016, American journal of medical genetics. Part A.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Mahshid S. Azamian, K. Worley, S. Lalani, 2022, American journal of medical genetics. Part A.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

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

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion

W. Bi, C. Bacino, Alfonso Hoyos-Martínez, 2023, Journal of pediatric endocrinology & metabolism : JPEM.

Novel EED mutation in patient with Weaver syndrome

W. Bi, L. Potocki, A. Schlesinger, 2017, American journal of medical genetics. Part A.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.