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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

American journal of human genetics, 2016-12, Vol.99 (6), p.1388-1394

2016

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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

American journal of human genetics, 2013-06, Vol.92 (6), p.1001-1007

2013

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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human mutation, 2012-03, Vol.33 (3), p.457-466

2012

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1833-1852

2013

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1637-1654

2008

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Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA

Medical image analysis, 2014-07, Vol.18 (5), p.699-710

2014

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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.66-70

2014

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Handheld optical coherence tomography during sedation in young children with optic pathway gliomas

JAMA ophthalmology, 2014-03, Vol.132 (3), p.265

2014

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An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Molecular genetics and metabolism reports, 2015-06, Vol.3 (C), p.47-54

2015

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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.237-240

2014

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Autosomal dominant inheritance of infantile myofibromatosis

American journal of medical genetics, 2004-04, Vol.126A (3), p.261-266

2004

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Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1944-1948

2015

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Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism

Pediatrics (Evanston), 2008-12, Vol.122 (6), p.1191

2008

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Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.967-977

2016

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Hierarchical Constrained Local Model Using ICA and Its Application to Down Syndrome Detection

Medical Image Computing and Computer-Assisted Intervention – MICCAI 2013, 2013, Vol.16 (Pt 2), p.222-229

2013

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Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3038-3053

2008

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Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.498-502

2008

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In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency

American journal of neuroradiology : AJNR, 2003-08, Vol.24 (7), p.1471-1474

2003

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Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

JIMD Reports, Volume 20, 2015, Vol.20, p.1-4

2015

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Single-Gene Autosomal Recessive Disorders and Prader-Willi Syndrome: An Update for Food and Nutrition Professionals

Journal of the American Dietetic Association, 2007-03, Vol.107 (3), p.466-478

2007

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665

2021

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Automated down syndrome detection using facial photographs

2013 35th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), 2013, Vol.2013, p.3670-3673

2013

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COMMAD: a novel syndrome caused by biallelic mutation of the MITF gene

Journal of AAPOS, 2018-08, Vol.22 (4), p.e28-e28

2018

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Crane-Heise syndrome: A second familial case report with elaboration of phenotype

American journal of medical genetics, 2003-04, Vol.118A (3), p.223-228

2003

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Handheld optical coherence tomography during sedation in young children with optic pathway gliomas

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Autosomal dominant inheritance of infantile myofibromatosis

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Hierarchical Constrained Local Model Using ICA and Its Application to Down Syndrome Detection

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency

Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

Single-Gene Autosomal Recessive Disorders and Prader-Willi Syndrome: An Update for Food and Nutrition Professionals

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Automated down syndrome detection using facial photographs

COMMAD: a novel syndrome caused by biallelic mutation of the MITF gene

Crane-Heise syndrome: A second familial case report with elaboration of phenotype

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