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Izumi, Kosuke
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1

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyo..:

Keisling, Julia ; Bedoukian, Emma ; Burstein, Danielle S....
The Journal of Pediatrics.  265 (2024)  - p. 113808 , 2024
Link: https://doi.org/10.1016/..
 
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2

Kagami Ogata syndrome: a small deletion refines critical re..:

Kilich, Gonench ; Hassey, Kelly ; Behrens, Edward M....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

The Brain Gene Registry: a data snapshot:

Baldridge, Dustin ; Kaster, Levi ; Sancimino, Catherine...
Journal of Neurodevelopmental Disorders.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

P186: The earliest sign of hypogonadotropic hypogonadism: T..:

Leonard, Jacqueline ; Kilberg, Marissa ; Vogiatzi, Maria...
Genetics in Medicine Open.  2 (2024)  - p. 101083 , 2024
Link: https://doi.org/10.1016/..
 
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5

Structural brain abnormalities in Pallister-Killian syndrom..:

Fetta, Anna ; Toni, Francesco ; Pettenuzzo, Ilaria...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics.  143 (2024)  3 - p. 437-453 , 2024
Link: https://doi.org/10.1007/..
 
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7

Retrospective identification of patients with SRRM2‐related..:

Regan‐Fendt, Kelly E. ; Rippert, Alyssa L. ; Medne, Livija...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2149-2155 , 2023
Link: https://doi.org/10.1002/..
 
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8

Expanding the reproductive organ phenotype of CHD7‐spectrum..:

Nomakuchi, Tomoki T. ; Danowitz, Melinda ; Stewart, Blythe...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1418-1424 , 2023
Link: https://doi.org/10.1002/..
 
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9

Unmasking the challenges of Kabuki syndrome in adulthood: A..:

Priestley, Jessica R. C. ; Rippert, Alyssa L. ; Condit, Courtney...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 128-138 , 2023
Link: https://doi.org/10.1002/..
 
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10

Expansion of clinical and variant spectrum of EEF2‐related ..:

Guo, Rose ; Rippert, Alyssa L. ; Cook, Edward B....
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2602-2609 , 2023
Link: https://doi.org/10.1002/..
 
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11

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics.  110 (2023)  1 - p. 120-145 , 2023
Link: https://doi.org/10.1016/..
 
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12

Nuclear speckleopathies: developmental disorders caused by ..:

Regan-Fendt, Kelly E. ; Izumi, Kosuke
Human Genetics.  143 (2023)  4 - p. 529-544 , 2023
Link: https://doi.org/10.1007/..
 
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13

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry.  299 (2023)  8 - p. 105012 , 2023
Link: https://doi.org/10.1016/..
 
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14

Molecular Mechanisms Contributing to the Etiology of Congen..:

Katz, Olivia L. ; Wild, K. Taylor ; McEldrew, Deborah...
The Journal of Pediatrics.  246 (2022)  - p. 251-265.e2 , 2022
Link: https://doi.org/10.1016/..
 
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15

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine.  24 (2022)  11 - p. 2351-2366 , 2022
Link: https://doi.org/10.1016/..
 
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