Publications

Publications

Master
Content

Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P. Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental DisordersAm J Respir Crit Care Med. 2019;200:1093-101. PMID: 31189067

Karolak JA, Vincent M, Deutsch G, Gambin T, (…) Le Caignec C, Stankiewicz P. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayAm J Hum Genet. 2019;104:213-28. PMID: 30639323

Cao Y, Tokita MJ, (…) Liu P, Stankiewicz P. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingGenome Med. 2019;11:48. PMID: 31349857

Szafranski P, Liu Q, Karolak JA, (…) Popek E, Stankiewicz P. Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotypeHum Genet. 2019;138:1301-11. PMID: 31686214

Schulze KV, Szafranski P, (…) Hanchard NA, Stankiewicz P. Novel parent-of-origin-specific differentially methylated loci on chromosome 16Clin Epigenetics. 2019;11:60. PMID: 30961659

Szafranski P, Kośmider E, (…), Gambin A, Stankiewicz P. LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVHum Mutat. 2018;39:1916-1925. PMID: 30084155

Stankiewicz P, Khan TN, Szafranski P, (…), Davis EE, Yang Y. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesAm J Hum Genet. 2017;101:503-15. PMID: 28942966

Gambin T, Yuan B, (…), Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017;9:83. PMID: 28934986

Küry S, (…), Stankiewicz P*, Isidor B*. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderAm J Hum Genet. 2017;100:352-63. PMID: 28388435

Zhang J, Gambin T, (…), Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresHum Genet. 2017;136:377-86. PMID: 28251352

Szafranski P, Gambin T, Dharmadhikari AV, (…), Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016;135:569-86. PMID 27071622

Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P*, Gambin A*. "Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination." Nucleic Acids Res. 2015;43:2188-98. PMID: 25613453

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, ..., Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. Am J Hum Genet.. 2014;95:173-82. PMID: 25087610

Dittwald P, Gambin T, Szafranski P, (…), Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res.. 2013;23:1395-409. PMID: 23657883

Szafranski P, Dharmadhikari AV, (…) Stankiewicz P. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.." Genome Res.. 2013;23:23-33. PMID: 23034409

Dharmadhikari AV, Kang SH, Szafranski P, (…), Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum. Mol. Genet. 2012;21:3345-55. PMID: 22543972

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, (…) Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum. Mutat. 2012;33:165-79. PMID: 21948486

Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, (…) Stankiewicz P. Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems. Am. J. Hum. Genet. 2010;87:857-65. PMID: 21109226

Shinawi M, Schaaf CP, Bhatt SS, Xia Z, (…) Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat. Genet.. 2009;41:1269-71. PMID: 19898479

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, (…) Langston C, Shaw-Smith C. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet.. 2009;84:780-91. PMID: 19500772