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Giampietro, Philip
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1

The potential impact of implementation of expanded carrier ..:

Roche, Kelly ; Khan, Shama P. ; Botti, Christina...
Journal of Genetic Counseling.  , 2023
Link: https://doi.org/10.1002/..
 
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2

Epidemiology, aetiology, interventions and genomics in chil..:

Dahan-Oliel, Noémi ; van Bosse, Harold ; Darsaklis, Vasiliki Betty...
BMJ Open.  12 (2022)  10 - p. e060591 , 2022
Link: https://doi.org/10.1136/..
 
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3

Dilated cardiomyopathy as a novel finding in a child with A..:

Botti, Christina ; Giampietro, Philip ; Feygina, Valeriya..
Molecular Genetics and Metabolism.  132 (2021)  - p. S171 , 2021
Link: https://doi.org/10.1016/..
 
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4

Three new patients with Steel syndrome and a Puerto Rican s..:

Amlie‐Wolf, Louise ; Moyer‐Harasink, Sue ; Carr, Ann‐Marie...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 798-803 , 2020
Link: https://doi.org/10.1002/..
 
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5

The diagnostic workup in a patient with AMC: Overview of th..:

Dieterich, Klaus ; Le Tanno, Pauline ; Kimber, Eva...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  181 (2019)  3 - p. 337-344 , 2019
Link: https://doi.org/10.1002/..
 
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6

A missense variant in SLC39A8 is associated with severe idi..:

Haller, Gabe ; McCall, Kevin ; Jenkitkasemwong, Supak...
Nature Communications.  9 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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7

PhenX measures for phenotyping rare genetic conditions:

Phillips, Michael ; Grant, Tracey ; Giampietro, Philip...
Genetics in Medicine.  19 (2017)  7 - p. 834-837 , 2017
Link: https://doi.org/10.1038/..
 
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8

NovelNTRK1Frameshift Mutation in Congenital Insensitivity t..:

Liu, Sen ; Wu, Nan ; Liu, Jiaqi...
Journal of Child Neurology.  30 (2014)  10 - p. 1357-1361 , 2014
Link: https://doi.org/10.1177/..
 
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9

Rapid loss of δ-aminolevulinic acid dehydratase activity in..:

Guzelian, Philip S. ; O'Connor, Laurel ; Fernandez, Suzanne...
Life Sciences.  31 (1982)  11 - p. 1111-1116 , 1982
Link: https://doi.org/10.1016/..
 
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10

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics.  110 (2023)  10 - p. 1787-1803 , 2023
Link: https://doi.org/10.1016/..
 
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11

COL11A2 as a candidate gene for vertebral malformations and..:

Rebello, Denise ; Wohler, Elizabeth ; Erfani, Vida...
Human Molecular Genetics.  , 2023
Link: https://doi.org/10.1093/..
 
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12

TBX6 as a cause of a combined skeletal‐kidney dysplasia syn..:

Li, Guozhuang ; Strong, Alanna ; Wang, Haojun...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3469-3481 , 2022
Link: https://doi.org/10.1002/..
 
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13

Overview of Gene Special Issue "Genetic Conditions Affectin..:

Giampietro, Philip F. ; Hadley-Miller, Nancy ; Raggio, Cathy L.
Genes.  13 (2022)  7 - p. 1194 , 2022
Link: https://doi.org/10.3390/..
 
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14

50 Years Ago in T J P:

Orland, Mark D. ; Giampietro, Philip F.
The Journal of Pediatrics.  245 (2022)  - p. 38 , 2022
Link: https://doi.org/10.1016/..
 
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15

Myhre syndrome is caused by dominant-negative dysregulation..:

Alankarage, Dimuthu ; Enriquez, Annabelle ; Steiner, Robert D....
Differentiation.  128 (2022)  - p. 1-12 , 2022
Link: https://doi.org/10.1016/..
 
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