L. Potocki

发表

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster.

M Gribskov, M. Gribskov, L. Potocki, 2001, Genome research.

Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome

M. Gambello, L. Ewing-Cobbs, L. Potocki, 2013, Journal of Genetic Counseling.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Elizabeth A. Nelson, Shweta U. Dhar, Lorraine Potocki, 2011, Genetics in Medicine.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome

L. Shaffer, B. Ballif, L. Potocki, 2002, European Journal of Human Genetics.

Cognitive and Adaptive Behavior Profiles in Smith-Magenis Syndrome

J. Lupski, R. Voigt, L. Potocki, 2006, Journal of developmental and behavioral pediatrics : JDBP.

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

B. Trask, G. van den Engh, H. Mefford, 1996, Human Genetics.

The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances

J. Lupski, L. Potocki, Ken-Shiung Chen, 1996 .

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

L. Potocki, A. Brusco, S. Keswani, 2021, American journal of medical genetics. Part A.

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

R. Lewis, M. Bekheirnia, L. Potocki, 2011, American journal of medical genetics. Part A.

Holoprosencephaly in an 8.5-week triploidy gestation.

M. Muenke, B. Solomon, L. Potocki, 2009, Clinical dysmorphology.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

J. Lupski, L. Potocki, Claudia Soler-Alfonso, 2020, American journal of medical genetics. Part A.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management

L. Shaffer, R. Lewis, L. Potocki, 2010, American journal of medical genetics. Part A.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

J. Lupski, J. Posey, Z. Coban-Akdemir, 2022, American journal of medical genetics. Part A.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

L. Aaltonen, A. Palotie, M. Kurki, 2019, Genetics in Medicine.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome

P. Stankiewicz, Z. Xia, S. Cheung, 2010, American journal of medical genetics. Part A.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Z. Ou, P. Stankiewicz, B. Dawson, 2012, European Journal of Human Genetics.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

J. Lupski, L. Potocki, C. Brown, 2003, Journal of medical genetics.

Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

M. Shinawi, L. Potocki, F. Porter, 2005, American journal of medical genetics. Part A.

Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

L. Potocki, K. Walz, D. Barbouth, 2019, American journal of medical genetics. Part A.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

J. Lupski, C. Boerkoel, L. Potocki, 2003, Brain : a journal of neurology.

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

N. Brunetti‐Pierri, R. Wevers, L. Potocki, 2011, Clinical dysmorphology.

Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

P. Stankiewicz, L. Potocki, J. Lupski, 2001, Clinical genetics.

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

J. Lupski, L. Potocki, J. K. Fraley, 2011, The Journal of pediatrics.

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

C. Kashork, B. Bejjani, L. Potocki, 2002, American journal of medical genetics.

Cardiovascular findings in duplication 17p11.2 syndrome

J. Lupski, W. Gu, P. Liu, 2011, Genetics in Medicine.

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome

L. Potocki, S. Elsea, K. Kaplan, 2020, CNS Drugs.

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

L. Shaffer, L. Potocki, L. Shaffer, 1996, American journal of medical genetics.

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies

S. Lalani, L. Potocki, S. Ben-Shachar, 2009, American journal of medical genetics. Part A.

Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

P. Stankiewicz, J. Lupski, R. Lewis, 2005, American journal of medical genetics. Part A.

Trisomy 17 p 10p 12 Due to Mosaic Supernumerary Marker Chromosome : Delineation of Molecular Breakpoints and Clinical Phenotype , and Comparison to Other Proximal 17 p Segmental Duplications

P. Stankiewicz, J. Lupski, R. Lewis, 2005 .

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.

G. Evans, A. Ligon, L. Potocki, 1998, American journal of medical genetics.

Potocki–Shaffer syndrome in a child without intellectual disability—The role of PHF21A in cognitive function

L. Potocki, L. Noroski, C. McCool, 2017, American Journal of Medical Genetics. Part A.

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome

L. Potocki, A. Stevens, A. Marcogliese, 2022, Pediatric hematology and oncology.

Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

J. Lupski, R. Reiter, Philip M Boone, 2011, American journal of medical genetics. Part A.

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

J. Lupski, P. Liu, L. Potocki, 2014, American journal of medical genetics. Part A.

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

P. Stankiewicz, J. Lupski, L. Potocki, 2003, Genetics in Medicine.

Tetrasomy 21 in megakaryoblastic leukemia.

B. Woda, L. Potocki, M. Schwenn, 1994, Cancer genetics and cytogenetics.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

J. Lupski, P. Liu, T. Harel, 2016, Human Genetics.

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease

L. Potocki, A. Adesina, T. Lotze, 2016, Muscle & nerve.

Cockayne Syndrome

L. Potocki, D. Metry, S. Mallory, 2003, Pediatric dermatology.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Lorraine Potocki, Lisa G Shaffer, L. Shaffer, 2000, Journal of medical genetics.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

A. C. Chinault, J. Lupski, A. Chinault, 1997, Nature Genetics.

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

J. Berg, C. Bacino, L. Potocki, 2010, American journal of medical genetics. Part A.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

L. Shaffer, P. Stankiewicz, J. Lupski, 2002, Genome research.

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

B. Peters, R. Drmanac, A. Beaudet, 2013, Nature Genetics.

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

J. Lupski, S. Girirajan, P. Saha, 2012, PLoS genetics.

Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)

L. Potocki, D. Treadwell-Deering, M. Powell, 2010, Journal of developmental and behavioral pediatrics : JDBP.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

J. Lupski, H. Firth, S. Girirajan, 2006, American journal of medical genetics. Part A.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

J. Lupski, S. Riazuddin, Z. Ahmed, 2001, Human Genetics.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

L. Shaffer, B. Morrow, S. Minoshima, 2003, Human molecular genetics.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

L. Shaffer, J. Lupski, W. Meschino, 2000, Nature Genetics.

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Yaping Yang, A. Willis, C. Eng, 2011, International journal of pediatric endocrinology.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

L. Shaffer, J. Lupski, J. Korenberg, 1998, American journal of medical genetics.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, P. Liu, L. Potocki, 2010, American journal of human genetics.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L. Shaffer, J. Lupski, C. Kashork, 1999, American journal of human genetics.

Novel EED mutation in patient with Weaver syndrome

W. Bi, L. Potocki, A. Schlesinger, 2017, American journal of medical genetics. Part A.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Birgit Sikkema-Raddatz, Christian R Marshall, Stephen W Scherer, 2010, European Journal of Human Genetics.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

L. Shaffer, J. Badano, Yuan-qing Wu, 2000, American journal of human genetics.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

Hypertension in Potocki-Shaffer syndrome: A case report.

L. Potocki, E. Elenberg, C. McCool, 2019, European journal of medical genetics.

Trisomy 14 Mosaicism: A Case Report and Review of the Literature

L. Shaffer, L. Potocki, C. Fernandes, 2004, Journal of Perinatology.

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

C McCluggage, F Greenberg, J. Lupski, 1996, American journal of medical genetics.

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

A. Breman, Ankita Patel, J. Posey, 2016, American journal of medical genetics. Part A.

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

L. Potocki, Juanita Neira-Fresneda, 2015, Journal of Pediatric Genetics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Objective measures of sleep disturbances in children with Potocki–Lupski syndrome

J. Lupski, L. Potocki, D. Glaze, 2019, American journal of medical genetics. Part A.

The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome

L. Potocki, M. Pierpont, A. Sanchez-Valle, 2011, American journal of medical genetics. Part A.

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

J. Lupski, A. Goldman, J. Noebels, 2006, Journal of child neurology.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Congenital diaphragmatic hernia in WAGR syndrome

P. Stankiewicz, M. L. Cooper, S. Cheung, 2005, American journal of medical genetics. Part A.

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

J. Lupski, J. Bailey-Wilson, A. Gropman, 2002, Genetics in Medicine.

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay

L. Potocki, F. Scaglia, H. Amin, 2021, American journal of medical genetics. Part A.

(del(17)(p11.2p11.2)) Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome

J. Lupski, A. Goldman, L. Potocki, 2013 .

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

David R. Murdock, J. Rosenfeld, R. Lewis, 2022, American Journal of Medical Genetics. Part A.

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.

J. Lupski, L. Potocki, K. S. Chen, 1999, Genomics.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

R. Gibbs, D. Muzny, M. Bainbridge, 2018, Blood.

Severe Pancytopenia in a Premature Infant

C. Bacino, L. Potocki, S. Welty, 2017, Clinical pediatrics.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

The hand in Smith–Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis

J. Lupski, A. Poznanski, L. Potocki, 2003, Pediatric Radiology.

Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.

J. Lupski, C. Cunningham-Rundles, W. Gu, 2011, The Journal of allergy and clinical immunology.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Yaping Yang, L. Potocki, D. Scott, 2019, Journal of Pediatric Genetics.

Central nervous system malformations in oral‐facial‐digital syndrome, type 1

L. Potocki, O. Bodamer, M. Holub, 2005, American journal of medical genetics. Part A.

Cardiac malformation in two infants with hypochondrogenesis.

L. Potocki, D. Abuelo, C. E. Oyer, 1995, American journal of medical genetics.

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

G. Enns, L. Potocki, M. Zaghlula, 2018, American journal of medical genetics. Part A.

Potocki-Lupski Syndrome

L. Potocki, Bo Yuan, Juanita Neira-Fresneda, 1993 .

R. Ghosh, P. Tanpaiboon, A. Antonellis, 2020, American journal of medical genetics. Part A.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

L. Shaffer, C. Kashork, V. Sutton, 2002, Prenatal diagnosis.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Human Genetics: From Molecules to Medicine

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2011 .

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Comprar Human Genetics: From Molecules To Medicine | Lorraine Potocki | 9781608316717 | Lippincott Williams & Wilkins

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2012 .

Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions

S. Fernbach, L. Potocki, C. Murali, 2014, American journal of medical genetics. Part A.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.

J. Posey, L. Potocki, H. Northrup, 2020, Pediatric neurology.

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease

L. Potocki, A. Adesina, T. Lotze, 2016, Muscle & nerve.

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

R. Lewis, M. Bekheirnia, L. Potocki, 2011, American journal of medical genetics. Part A.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, L. Potocki, M. Withers, 2010, American journal of human genetics.

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

N. Brunetti‐Pierri, R. Wevers, L. Potocki, 2011, Clinical dysmorphology.

Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM1 Gangliosidosis

N. Brunetti‐Pierri, J. Hunter, L. Potocki, 2008, Journal of child neurology.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human Molecular Genetics.

Novel EED mutation in patient with Weaver syndrome

W. Bi, L. Potocki, A. Schlesinger, 2017, American journal of medical genetics. Part A.

Drosophila melanogaster Sequences In A Systematic Analysis of Human Disease-Associated Gene

M. Gribskov, L. Potocki, E. Bier, 2001 .

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.