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A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
By:
- Al‐Ali, Samir;
- Jeffries, Lauren;
- Faustino, E. Vincent S.;
- Ji, Weizhen;
- Mis, Emily;
- Konstantino, Monica;
- Zerillo, Cynthia;
- Jiang, Yong‐hui;
- Spencer‐Manzon, Michele;
- Bale, Allen;
- Zhang, Hui;
- McGlynn, Julie;
- McGrath, James M.;
- Tremblay, Thierry;
- Brodsky, Nina N.;
- Lucas, Carrie L.;
- Pierce, Richard;
- Deniz, Engin;
- Khokha, Mustafa K.;
- Lakhani, Saquib A.
Publication type:
Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1728, doi. 10.1002/ajmg.a.62693
By:
- Wen, Jiadi;
- Chai, Hongyan;
- Grommisch, Brittany;
- DiAdamo, Autumn;
- Dykas, Daniel;
- Ma, Deqiong;
- Popa, Andreea;
- Zhao, Chen;
- Spencer‐Manzon, Michele;
- Jiang, Yong‐Hui;
- McGrath, James;
- Li, Peining;
- Bale, Allen;
- Zhang, Hui
Publication type:
Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783
By:
- Mis, Emily K.;
- Al‐Ali, Samir;
- Ji, Weizhen;
- Spencer‐Manzon, Michele;
- Konstantino, Monica;
- Khokha, Mustafa K.;
- Jeffries, Lauren;
- Lakhani, Saquib A.
Publication type:
Article
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2049, doi. 10.1002/ajmg.a.61729
By:
- Amabile, Sonia;
- Jeffries, Lauren;
- McGrath, James M.;
- Ji, Weizhen;
- Spencer‐Manzon, Michele;
- Zhang, Hui;
- Lakhani, Saquib A.
Publication type:
Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Published in:
Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
By:
- Chai, Hongyan;
- DiAdamo, Autumn;
- Grommisch, Brittany;
- Xu, Fang;
- Zhou, Qinghua;
- Wen, Jiadi;
- Mahoney, Maurice;
- Bale, Allen;
- McGrath, James;
- Spencer-Manzon, Michele;
- Li, Peining;
- Zhang, Hui
Publication type:
Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Published in:
Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
By:
- Chai, Hongyan;
- DiAdamo, Autumn;
- Grommisch, Brittany;
- Xu, Fang;
- Zhou, Qinghua;
- Wen, Jiadi;
- Mahoney, Maurice;
- Bale, Allen;
- McGrath, James;
- Spencer-Manzon, Michele;
- Li, Peining;
- Zhang, Hui
Publication type:
Article
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).
Published in:
Genes, 2023, v. 14, n. 2, p. 359, doi. 10.3390/genes14020359
By:
- Thompson, Miles D.;
- Li, Xueying;
- Spencer-Manzon, Michele;
- Andrade, Danielle M.;
- Murakami, Yoshiko;
- Kinoshita, Taroh;
- Carpenter, Thomas O.
Publication type:
Article

Found: 7

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.

DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).