Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project (Q63614921)

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object named as

Ingrid A Holm

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author name string

Ozge Ceyhan-Birsoy

1

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Jaclyn B Murry

2

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Kalotina Machini

3

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Matthew S Lebo

4

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Shawn Fayer

6

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Casie A Genetti

7

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Talia S Schwartz

8

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Pankaj B Agrawal

9

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Richard B Parad

10

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Amy L McGuire

12

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Robert C Green

13

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Heidi L Rehm

14

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Alan H Beggs

American Journal of Human Genetics

15

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language of work or name

English

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publication date

3 January 2019

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published in

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volume

104

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issue

1

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page(s)

76-93

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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency

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Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

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