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Breman, Amy M.
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1

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances.  5 (2024)  2 - p. 100273 , 2024
Link: https://doi.org/10.1016/..
 
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2

Noninvasive single‐cell‐based prenatal genetic testing: A p..:

Bellair, Michelle ; Amaral, Elisabete ; Ouren, Mason...
Prenatal Diagnosis.  44 (2024)  3 - p. 304-316 , 2024
Link: https://doi.org/10.1002/..
 
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3

Computational pharmacogenotype extraction from clinical nex..:

Shugg, Tyler ; Ly, Reynold C. ; Osei, Wilberforce...
Frontiers in Oncology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an..:

Iwata‐Otsubo, Aiko ; Klee, Victoria H. ; Ahmad, Aaliya A...
Clinical Case Reports.  10 (2022)  11 - p. , 2022
Link: https://doi.org/10.1002/..
 
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5

Management of amended variant classification laboratory rep..:

Richardson, Brooke ; Fitzgerald‐Butt, Sara M. ; Spoonamore, Katherine G....
Journal of Genetic Counseling.  31 (2021)  2 - p. 479-488 , 2021
Link: https://doi.org/10.1002/..
 
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6

An adult female with 5q34-q35.2 deletion: A rare syndromic ..:

Arya, Priyanka ; Wilson, Theodore E. ; Parent, John J....
European Journal of Medical Genetics.  63 (2020)  4 - p. 103797 , 2020
Link: https://doi.org/10.1016/..
 
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7

Cytogenetically visible inversions are formed by multiple m..:

Pettersson, Maria ; Grochowski, Christopher M. ; Wincent, Josephine...
Human Mutation.  41 (2020)  11 - p. 1979-1998 , 2020
Link: https://doi.org/10.1002/..
 
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8

CNVs cause autosomal recessive genetic diseases with or wit..:

Yuan, Bo ; Wang, Lei ; Liu, Pengfei...
Genetics in Medicine.  22 (2020)  10 - p. 1633-1641 , 2020
Link: https://doi.org/10.1038/..
 
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9

Human and mouse studies establish TBX6 in Mendelian CAKUT a..:

Yang, Nan ; Wu, Nan ; Dong, Shuangshuang...
Kidney International.  98 (2020)  4 - p. 1020-1030 , 2020
Link: https://doi.org/10.1016/..
 
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10

An unusual cause for Coffin–Lowry syndrome: Three brothers ..:

Castelluccio, Valerie J. ; Vetrini, Francesco ; Lynnes, Ty...
American Journal of Medical Genetics Part A.  179 (2019)  12 - p. 2357-2364 , 2019
Link: https://doi.org/10.1002/..
 
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11

Pretransplant HLA typing revealed loss of heterozygosity in..:

Lobashevsky, Andrew L. ; Krueger-Sersen, Mary ; Britton, Rebecca M....
Human Immunology.  80 (2019)  4 - p. 257-262 , 2019
Link: https://doi.org/10.1016/..
 
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12

Copy number variant and runs of homozygosity detection by m..:

Dharmadhikari, Avinash V. ; Ghosh, Rajarshi ; Yuan, Bo...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

Novel deletion of 6p21.31p21.1 associated with laryngeal cl..:

Pillai, Nishitha R. ; Marafi, Dana ; Monteiro, Sonia A....
European Journal of Medical Genetics.  62 (2019)  6 - p. 103531 , 2019
Link: https://doi.org/10.1016/..
 
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14

Validation Studies for Single Circulating Trophoblast Genet..:

Vossaert, Liesbeth ; Wang, Qun ; Salman, Roseen...
The American Journal of Human Genetics.  105 (2019)  6 - p. 1262-1273 , 2019
Link: https://doi.org/10.1016/..
 
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15

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia,..:

Gennarino, Vincenzo A. ; Palmer, Elizabeth E. ; McDonell, Laura M....
Cell.  172 (2018)  5 - p. 924-936.e11 , 2018
Link: https://doi.org/10.1016/..
 
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