Qian Liu

发表

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

J. Bressler, L. Shaffer, A. Beaudet, 2004, American journal of medical genetics. Part A.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, C. Shaw, 2020, Genetics in Medicine.

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of medical genetics. Part A.

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2020, The Journal of Molecular Diagnostics.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia

Justyna A. Karolak, P. Stankiewicz, Y. Singh, 2020, BMC Pediatrics.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, J. Lupski, 2020, Genetics in Medicine.

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2018, Human mutation.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

J. Bressler, L. Shaffer, A. Beaudet, 2008, BMC Genomics.

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Justyna A. Karolak, J. Rosenfeld, P. Stankiewicz, 2020, Genomics.

Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions

P. Stankiewicz, J. Lupski, W. Bi, 2020, Current protocols in human genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Highly sensitive blocker displacement amplification and droplet digital PCR reveal very low-level parental FOXF1 somatic mosaicism in families with ACDMPV.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2020, Journal of Molecular Diagnostics.

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Justyna A. Karolak, N. de Leeuw, P. Stankiewicz, 2019, Human Genetics.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome

P. Stankiewicz, S. Scherer, N. Tommerup, 2018, Clinical genetics.