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1 . Academic Journal
Genomics Integration Into Nephrology Practice
저자
by
Pinto e Vairo, Filippo
;
Prochnow, Carri
;
Kemppainen, Jennifer L.
;
Lisi, Emily C.
;
Steyermark, Joan M.
, et al.
소스
In
Kidney Medicine
September-October 2021 3(5):785-798
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7 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Pena, Loren
;
Shashi, Vandana
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Acosta, Maria T.
, et al.
소스
In
Biological Psychiatry
15 January 2020 87(2):100-112
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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.
Scopus
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7 . Academic Journal
Impact of integrated translational research on clinical exome sequencing
저자
by
Klee, Eric W.
;
Cousin, Margot A.
;
Pinto e Vairo, Filippo
;
Morales-Rosado, Joel A.
;
Macke, Erica L.
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience.
저자
by
Neth, Bryan J.
;
Webb, Mason J.
;
White, Jessica
;
Uhm, Joon H.
;
Pichurin, Pavel N.
, et al.
소스
Journal of Neuro-Oncology; Aug2023, Vol. 164 Issue 1, p239-247, 9p
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7 . Periodical
Gain-of-function mutations in KCNK3cause a developmental disorder with sleep apnea
저자
by
Sörmann, Janina
;
Schewe, Marcus
;
Proks, Peter
;
Jouen-Tachoire, Thibault
;
Rao, Shanlin
, et al.
소스
Nature Genetics; October 2022, Vol. 54 Issue: 10 p1534-1543, 10p
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7 . Academic Journal
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
저자
by
Sörmann, Janina
;
Schewe, Marcus
;
Proks, Peter
;
Jouen-Tachoire, Thibault
;
Rao, Shanlin
, et al.
소스
Nature Genetics
. 54(10):1534-1543
Scopus
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7 . Periodical
Pathogenic SPTBN1variants cause an autosomal dominant neurodevelopmental syndrome
저자
by
Cousin, Margot A.
;
Creighton, Blake A.
;
Breau, Keith A.
;
Spillmann, Rebecca C.
;
Torti, Erin
, et al.
소스
Nature Genetics; July 2021, Vol. 53 Issue: 7 p1006-1021, 16p
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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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7 .
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome
저자
by
Kaszuba, Megan C.
;
Pulido, Jose S.
;
Folpe, Andrew L.
;
Pichurin, Pavel N.
;
Goodenberger, McKinsey L.
, et al.
소스
In
World Neurosurgery
January 2018 109:362-364
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