Co-Authors
This is a "connection" page, showing publications co-authored by SEEMA LALANI and HALEY STREFF.
Connection Strength
0.941
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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet. 2019 Nov; 62(11):103567.
Score: 0.163
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.150
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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11.
Score: 0.138
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. Eur J Hum Genet. 2024 Nov; 32(11):1378-1386.
Score: 0.060
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.059
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.051
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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233.
Score: 0.049
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245.
Score: 0.048
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OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021; 9:631428.
Score: 0.048
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
Score: 0.045
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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder. Eur J Hum Genet. 2020 05; 28(5):674-678.
Score: 0.044
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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508.
Score: 0.043
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.043