L. Potocki

P268: Obesity among patients with chromosome 22q11 duplication syndrome
20260 citationsauthor #7
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report
20250 citationsauthor #3
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
20243 citationsauthor #30
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
20234 citationsauthor #185
Participation in a national diagnostic research study: assessing the patient experience
20234 citationsauthor #185
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
202318 citationsauthor #269
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
20236 citationsauthor #201
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
202311 citationsauthor #193
P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy
20231 citationsauthor #6
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
20235 citationsauthor #214
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
202327 citationsauthor #226
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
202317 citationsauthor #185
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome
20226 citationsauthor #13
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome
20223 citationsauthor #5
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
20225 citationsauthor #3
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
202136 citationsauthor #79
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
202163 citationsauthor #207
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
20219 citationsauthor #5
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes.
202110 citationsauthor #2
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
202123 citationsauthor #223
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
202118 citationsauthor #46
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
202128 citationsauthor #25
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
20211 citationsauthor #56
One is the loneliest number: genotypic matchmaking using the electronic health record
20217 citationsauthor #39
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
20211 citationsauthor #39
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay
20216 citationsauthor #10
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
202028 citationsauthor #237
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
202038 citationsauthor #56
Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science
202031 citationsauthor #52
Management of Sleep Disturbances Associated with Smith-Magenis Syndrome
202012 citationsauthor #3
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS
20207 citationsauthor #6
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
202019 citationsauthor #19
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
202023 citationsauthor #219
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.
20204 citationsauthor #5
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
202086 citationsauthor #11
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
201957 citationsauthor #269
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
2019267 citationsauthor #173
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
201942 citationsauthor #192
Objective measures of sleep disturbances in children with Potocki–Lupski syndrome
20195 citationsauthor #5
Hypertension in Potocki-Shaffer syndrome: A case report.
20192 citationsauthor #3
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
201922 citationsauthor #20
Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome
20192 citationsauthor #4
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
20198 citationsauthor #177
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability
201916 citationsauthor #5
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
201888 citationsauthor #148
Characteristics of undiagnosed diseases network applicants: implications for referring providers
201826 citationsauthor #149
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
201820 citationsauthor #4
Figure 1. [Individuals with Potocki-Lupski syndrome. The...].
20170 citationsauthor #1
Lessons learned from additional research analyses of unsolved clinical exome cases
20171 citationsauthor #20
Novel EED mutation in patient with Weaver syndrome
201752 citationsauthor #5
Lessons learned from additional research analyses of unsolved clinical exome cases
2017201 citationsauthor #28
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
2017401 citationsauthor #24
Lessons learned from additional research analyses of unsolved clinical exome cases
2017201 citationsauthor #29
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
201783 citationsauthor #30
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
201774 citationsauthor #133
Potocki–Shaffer syndrome in a child without intellectual disability—The role of PHF21A in cognitive function
201713 citationsauthor #4
Severe Pancytopenia in a Premature Infant
20170 citationsauthor #6
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
20166 citationsauthor #5
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
20167 citationsauthor #9
The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
2016104 citationsauthor #11
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
20160 citationsauthor #9
Utility of whole exome sequencing in evaluation of juvenile motor neuron disease
201615 citationsauthor #2
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
2016172 citationsauthor #45
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes
201551 citationsauthor #2
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
201538 citationsauthor #15
Utility of Whole Exome Sequencing in Evaluation of Juvenile Onset Motor Neuron Disease (P2.233)
20150 citationsauthor #3
Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions
20144 citationsauthor #3
Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome
201436 citationsauthor #7
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
201351 citationsauthor #26
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
201356 citationsauthor #16
Magel-cause-Prader-Willi-supplemental
20130 citationsauthor #4
Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism
2013286 citationsauthor #5
(del(17)(p11.2p11.2)) Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome
20131 citationsauthor #2
Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome
201311 citationsauthor #8
Figure 3. [Adolescent females with Smith-Magenis syndrome...].
20120 citationsauthor #9
Figure 1. [Infants with SMS. Female age...].
20120 citationsauthor #9
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
201259 citationsauthor #15
Figure 2. [Early school-age SMS showing male...].
20120 citationsauthor #9
Table 1. [Summary of Molecular Genetic Testing Used in Smith-Magenis Syndrome].
20120 citationsauthor #9
Table 2. [Clinical Features of Smith-Magenis Syndrome].
20120 citationsauthor #9
Comprar Human Genetics: From Molecules To Medicine | Lorraine Potocki | 9781608316717 | Lippincott Williams & Wilkins
20122 citationsauthor #1
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men
201242 citationsauthor #3
Table 3. [Selected RAI1 Pathogenic Variants].
20120 citationsauthor #9
The phenotype of recurrent 10q22q23 deletions and duplications
201171 citationsauthor #12
The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome
201138 citationsauthor #3
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
201149 citationsauthor #11
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
201149 citationsauthor #12
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
20112 citationsauthor #9
Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations
201143 citationsauthor #6
Enhancing exposure to genetics and genomics through an innovative medical school curriculum
201148 citationsauthor #4
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
201127 citationsauthor #8
Human Genetics: From Molecules to Medicine
201112 citationsauthor #3
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation
201156 citationsauthor #7
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
201170 citationsauthor #6
Cardiovascular findings in duplication 17p11.2 syndrome
201138 citationsauthor #8
HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome
201039 citationsauthor #3
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
2010122 citationsauthor #10
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
201094 citationsauthor #2
Detection of clinically relevant exonic copy‐number changes by array CGH
2010248 citationsauthor #20
Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management
201034 citationsauthor #9

PROFILE

PAPERS

TIMELINE

COAUTHOR MAP

CONCEPT FOOTPRINT