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1 . Academic Journal
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
저자
by
Angius, Andrea
;
Baker, Janice A.
;
Bedoukian, Emma
;
Bhambhani, Vikas
;
Bodamer, Olaf
, et al.
소스
In
Human Genetics and Genomics Advances
18 July 2024 5(3)
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7 . Academic Journal
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvey, Justin
;
Amendola, Laura
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):774-789
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7 . Academic Journal
P123: Donor-cell derived hematological neoplasm: Case presentations of a complex and rare event
저자
by
Ruggeri, Jeanine
;
Carstens, Billie
;
McDaniel, Veronica
;
Henderson, Christine
;
Nijmeh, Hala
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
저자
by
Ferrer, Alejandro
;
Duffy, Patrick
;
Olson, Rory J.
;
Meiners, Michael A.
;
Schultz-Rogers, Laura
, et al.
소스
Human Genetics
. May2024, Vol. 143 Issue 5, p649-666. 18p.
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7 . Academic Journal
O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases*
저자
by
Olson, Rory
;
Ferrer, Alejandro
;
Duffy, Patrick
;
Pinto E Vairo, Filippo
;
Schultz-Rogers, Laura
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
저자
by
Tepe, Burak
;
Macke, Erica L.
;
Niceta, Marcello
;
Weisz Hubshman, Monika
;
Kanca, Oguz
, et al.
소스
American Journal of Human Genetics
. May2023, Vol. 110 Issue 5, p774-789. 16p.
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7 . Academic Journal
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
저자
by
O'Grady, Lauren
;
Schrier Vergano, Samantha A.
;
Hoffman, Trevor L.
;
Sarco, Dean
;
Cherny, Sara
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2750-2759, 10p
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7 . Academic Journal
Spectrum of Hematological Malignancies in 130 Patients with Germline Predisposition Syndromes - Mayo Clinic Germline Predisposition Study
저자
by
Difilippo, Emma Catherine
;
Ferrer, Alejandro
;
Schultz-Rogers, Laura
;
Gangat, Naseema
;
Khan, Shakila P
, et al.
소스
In
Blood
5 November 2020 136 Supplement 1:34-35
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7 . Academic Journal
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
저자
by
Ciolfi, Andrea
;
Foroutan, Aidin
;
Capuano, Alessandro
;
Pedace, Lucia
;
Travaglini, Lorena
, et al.
소스
Clinical Epigenetics
. 8/11/2021, Vol. 13 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder.
저자
by
Schultz‐Rogers, Laura
;
Masuho, Ikuo
;
Pinto e Vairo, Filippo
;
Schmitz, Christopher T.
;
Schwab, Tanya L.
, et al.
소스
Molecular Genetics & Genomic Medicine
. Nov2020, Vol. 8 Issue 11, p1-9. 9p.
Open Access (Wiley)
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