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Laurie Sadler

Women & Children's Hospital of Buffalo

14

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607

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

2018 Brain
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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

2017 American Journal of Human Genetics
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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

2017
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

2009 American Journal of Human Genetics
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Psychiatric Diagnoses in Patients with Williams Syndrome and Their Families

2006 Jefferson Journal of Psychiatry
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Delay in Diagnosis of Williams Syndrome

2002 Clinical Pediatrics
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Differences by sex in cardiovascular disease in Williams syndrome

2001 The Journal of Pediatrics
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Citations (41)
Early puberty in Williams syndrome.

1999 Clinical Dysmorphology
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Carotid ultrasound examination in Williams syndrome.

1998 The Journal of Pediatrics
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Subnormal binocular vision in the Williams syndrome.

1997 Journal of Pediatric Ophthalmology & Strabismus
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Citations (11)