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Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy

Journal of cell science, 2010-09, Vol.123 (18), p.3112-3124

2010

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CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

HGG advances, 2022-04, Vol.3 (2), p.100092-100092, Article 100092

2022

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Central 22q11.2 deletions

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2707-2723

2014

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Constitutive Activity of the Human TRPML2 Channel Induces Cell Degeneration

The Journal of biological chemistry, 2010-01, Vol.285 (4), p.2771-2782

2010

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Identification of the gene causing mucolipidosis type IV

Nature genetics, 2000-09, Vol.26 (1), p.118-123

2000

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Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1395-1399

2012

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Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2623-2630

2023

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F-Spondin is required for accurate pathfinding of commissural axons at the floor plate

Neuron (Cambridge, Mass.), 1999-06, Vol.23 (2), p.233-246

1999

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A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion

Journal of pediatric & adolescent gynecology, 2024-02, Vol.37 (1), p.95-97

2024

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Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

Journal of assisted reproduction and genetics, 2015-06, Vol.32 (6), p.887-891

2015

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The impact of financing of screening tests on utilization and outcomes: The case of amniocentesis

Journal of health economics, 2016-07, Vol.48, p.61-73

2016

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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

Journal of medical genetics, 2023-01, Vol.60 (1), p.99

2023

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The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing

Prenatal diagnosis, 2022-06, Vol.42 (7), p.881-889

2022

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Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis

Obstetrics and gynecology (New York. 1953), 2020-01, Vol.135 (1), p.149

2020

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Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Obstetrics and gynecology (New York. 1953), 2018-12, Vol.132 (6), p.1368-1375

2018

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Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

Prenatal diagnosis, 2018-01, Vol.38 (2), p.135-139

2018

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God-sent ordeals and their discontents: Ultra-orthodox Jewish women negotiate prenatal testing

Social science & medicine (1982), 2011-05, Vol.72 (9), p.1527-1533

2011

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TRPML and lysosomal function

Biochimica et biophysica acta, 2007-08, Vol.1772 (8), p.851-858

2007

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Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance

Prenatal diagnosis, 2024-03, Vol.44 (3), p.270-279

2024

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Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1143-1151

2020

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Is fetal isolated double renal collecting system an indication for chromosomal microarray?

The journal of maternal-fetal & neonatal medicine, 2021-03, Vol.34 (5), p.696-700

2021

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Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

International journal of gynecology and obstetrics, 2020-03, Vol.148 (3), p.399-400

2020

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Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy

Prenatal diagnosis, 2022-07, Vol.42 (8), p.1038-1048

2022

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A human laterality disorder associated with a homozygous WDR16 deletion

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1262-1265

2015

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Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

European journal of obstetrics & gynecology and reproductive biology, 2018-03, Vol.222, p.80-83

2018

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Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

Central 22q11.2 deletions

Constitutive Activity of the Human TRPML2 Channel Induces Cell Degeneration

Identification of the gene causing mucolipidosis type IV

Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay

F-Spondin is required for accurate pathfinding of commissural axons at the floor plate

A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

The impact of financing of screening tests on utilization and outcomes: The case of amniocentesis

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing

Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

God-sent ordeals and their discontents: Ultra-orthodox Jewish women negotiate prenatal testing

TRPML and lysosomal function

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance

Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy

A human laterality disorder associated with a homozygous WDR16 deletion

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

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