Elliott Sherr, MD, PhD

Director, Comprehensive Center for Brain Development

Professor

Department of Neurology

The lab uses a variety of tools (genetics, imaging, animal models) to study two important clinical domains: autism and epilepsy. We not only seek to discover the causes of these conditions but to develop new treatments. Below is a sampling of ongoing projects.

Ongoing Research:

The genetics of epilepsy: We have focused on a specific group of epilepsies, the epileptic encephalopathies (EE), that can be associated with autism and intellectual disability. We recently published a manuscript (Nature. 2013; 501(7466): 217-21. PMID: 23934111) that used exome sequencing in family trios to identify novel EE genes and to show that de novo genetic mutations are key for pathogenesis. We are using similar tools as well as animal models (including using CRISPR tools for mutagenesis) to discover new causes and to study the specific mutations found in patients.

Genetics First Approach to Autism: The 16p11.2 copy number variations (CNV; both deletion and duplication) are two of the most common genetic events associated with autistic spectrum disorder (ASD). We lead a network of scientists (SVIP; http://www.simonsvipconnect.org/) investigating the brain imaging changes (MRI, fMRI, MEG) and cognitive, and behavioral features of individuals with 16p11.2 deletions or duplications. By studying a group of individuals who all share the same genetic change, we hope to discover novel insights that explain how disrupted brain function can lead to the specific behavioral and cognitive changes associated with ASD. A recent publication (PMID: 24790192) highlights the potential of this approach.

Development of Blood-based biomarkers for autism: Advances in autism genetics and in the study of animal models provide evidence to suggest that some biochemical pathways are commonly affected in autistic patients. Our lab has shown that the activity level of specific selected intracellular signaling pathways are altered in ASD patients and that these measurements may be predictive of ASD status in presymptomatic children. Work is ongoing to elucidate the biology underlying these observations.

Gene discovery in human brain malformations: Our lab has shown that de novo and inherited genetic events play an important role in causing disorders of cerebral development, specifically focusing on patients with agenesis of the corpus callosum (ACC). ACC has a strong association with autism, as exemplified by Kim Peek, who has ACC and whose life was fictionalized in the movie, Rain Man. When novel ACC genes are identified, we develop animal models to investigate the implications on cerebral development. (See: PMID: 24098143 and PMID: 23453666).

Research Summary:

The genetics of autism and epilepsy: studies in cerebral development and connectivity

Websites

Sherr Lab

Publications:

Diverse childhood neurologic disorders and outcomes following fetal neurologic consultation.

Seminars in fetal & neonatal medicine

Gano D, Pardo AC, Glenn OA, Sherr E

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

American journal of human genetics

Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A

Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder.

Molecular psychiatry

Clarke L, Gesundheit N, Sherr EH, Hardan AY, Parker KJ

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Journal of medical genetics

Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, Le C, Mackenzie L, Richards L, Attié-Bitach T, Depienne C, Sherr E, Héron D

TMTC4 is a hair-cell-specific human deafness gene.

JCI insight

Li J, Choi BY, Eltawil Y, Ismail Mohamad N, Park Y, Matthews IR, Han JH, Kim BJ, Sherr EH, Chan DK

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

NPJ genomic medicine

Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME

Modulating the Unfolded Protein Response with ISRIB Mitigates Cisplatin Ototoxicity.

bioRxiv : the preprint server for biology

Li J, Rouse SL, Matthews IR, Sherr EH, Chan DK

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

medRxiv : the preprint server for health sciences

Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Brain communications

Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymus F, Scantlebury MH, Yesil G, Rosenfeld JA, Türkyilmaz A, Sager SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

American journal of human genetics

Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D, TMEM63B collaborators, Genomics England Research Consortium, Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R

The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.

Trends in molecular medicine

Gadek M, Sherr EH, Floor SN

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

NPJ genomic medicine

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sulta T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C

ARF1-related disorder: phenotypic and molecular spectrum.

Journal of medical genetics

de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A

ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.

Brain : a journal of neurology

Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano ?, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van Hirtum-Das M, Breckpot J, Hammer TB, M?ller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argili E, Sherr EH, Dobyns WB, Consortium GER, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.

Journal of human genetics

Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Nature communications

Leit?o E, Schr?der C, Parenti I, Dalle C, Rastetter A, K?hnel T, Kuechler A, Kaya S, G?rard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, H?ron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

Developmental cell

Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Genetics in medicine : official journal of the American College of Medical Genetics

Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Neurology. Genetics

Moufawad El Achkar C, Rosen A, Kessler SK, Steinman KJ, Spence SJ, Ramocki M, Marco EJ, Green Snyder L, Spiro JE, Chung WK, Annapurna P, Sherr EH

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

Annals of clinical and translational neurology

Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM

Newborn screening for neurodevelopmental diseases: Are we there yet?

American journal of medical genetics. Part C, Seminars in medical genetics

Chung WK, Berg JS, Botkin JR, Brenner SE, Brosco JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Lloyd-Puryear M, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.

Pediatric neurology

Siafa L, Argilli E, Sherr EH, Myers KA

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

Journal of human genetics

Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Journal of medical genetics

Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F

Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys.

Molecular autism

Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

American journal of human genetics

Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, CAUSES Study , van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

American journal of human genetics

Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M, Care4Rare Canada Consortium , Genomics England Research Consortium , Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L

DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.

eLife

Morcom L, Edwards TJ, Rider E, Jones-Davis D, Lim JW, Chen KS, Dean RJ, Bunt J, Ye Y, Gobius I, Suárez R, Mandelstam S, Sherr EH, Richards LJ

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

American journal of human genetics

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.

eLife

Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.

Pediatric research

16p11.2 deletion syndrome.

Current opinion in genetics & development

Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Science advances

Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ

Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy.

Scientific reports

Rouse SL, Matthews IR, Li J, Sherr EH, Chan DK

Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment.

Human mutation

Simmons RL, Li H, Alten B, Santos MS, Jiang R, Paul B, Lalani SJ, Cortesi A, Parks K, Khandelwal N, Smith-Packard B, Phoong MA, Chez M, Fisher H, Scheuerle AE, Shinawi M, Hussain SA, Kavalali ET, Sherr EH, Voglmaier SM

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Annals of neurology

Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ

Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum.

NeuroImage

Edwards TJ, Fenlon LR, Dean RJ, Bunt J, Sherr EH, Richards LJ

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Neuron

Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Journal of medical genetics

Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH

Chapter 10 Lissencephalies and axon guidance disorders.

E.H. Sherr, B.L. Johnson-Kerner, L. Fernandez

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.

Biological psychiatry. Cognitive neuroscience and neuroimaging

Matsuzaki J, Berman JI, Blaskey L, Kuschner ES, Gaetz L, Mukherjee P, Buckner RL, Nagarajan SS, Chung WK, Sherr EH, Roberts TPL

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

American journal of human genetics

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M

Cerebrospinal fluid vasopressin and symptom severity in children with autism.

Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ

Sensorimotor cortical oscillations during movement preparation in 16p11.2 deletion carriers.

The Journal of neuroscience : the official journal of the Society for Neuroscience

Hinkley LBN, Dale C, Luks TL, Findlay AM, Bukshpun P, Pojman N, Thieu T, Chung WK, Berman J, Roberts TPL, Mukherjee P, Sherr EH, Nagarajan SS

Poster Withdrawn: QUANTIFYING THE EFFECTS OF 16P11.2 CNVs ON BRAIN STRUCTURE, A MULTI-SITE ‘GENETIC-FIRST’MRI STUDY.

European Neuropsychopharmacology

Sandra Martin-Brevet, Borja Rodriguez-Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne M. Maillard, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Jacques S. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

American journal of human genetics

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ

Deletion of Tmtc4 activates the unfolded protein response causing postnatalhearing loss.

The Journal of clinical investigation

Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH

Cerebrospinal fluid vasopressin and symptom severity in children with autism.

Annals of neurology

Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ

Genomic and phenotypic delineation of congenital microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics

Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Sahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

BMC medical genomics

Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatric neurology

Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH

Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.

Science translational medicine

Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biological psychiatry

Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P, Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Human mutation

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Scientific reports

Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Nature neuroscience

Gstrein T, Edwards A, Pristoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA

Cover Image, Volume 39, Issue 1.

Human mutation

Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Heron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Human mutation

Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.

Acta neuropathologica

Olney NT, Alquezar C, Ramos EM, Nana AL, Fong JC, Karydas AM, Taylor JB, Stephens ML, Argouarch AR, Van Berlo VA, Dokuru DR, Sherr EH, Jicha GA, Dillon WP, Desikan RS, De May M, Seeley WW, Coppola G, Miller BL, Kao AW

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

Radiology

Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Neurology. Genetics

Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Nature genetics

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nature genetics

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ

26 Disorders of Forebrain Development.

Swaiman\u0027s Pediatric Neurology

Elliott H. Sherr, Jin S. Hahn

51 Global Developmental Delay and Intellectual Disability.

Swaiman\u0027s Pediatric Neurology

Elliott H. Sherr, Michael I. Shevell

57 Autistic Spectrum Disorders.

Swaiman\u0027s Pediatric Neurology

Deborah G. Hirtz, Ann Wagner, Pauline A. Filipek, Elliott H. Sherr

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain : a journal of neurology

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ

Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta).

PloS one

Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr EH, Garner JP, Capitanio JP, Parker KJ

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Cell reports

Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ

Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study.

Translational psychiatry

Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco EJ

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nature genetics

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

Journal of autism and developmental disorders

Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

American journal of medical genetics. Part A

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.

Human brain mapping

Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

American journal of medical genetics. Part A

Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S

The Contribution of the Corpus Callosum to Language Lateralization.

The Journal of neuroscience : the official journal of the Society for Neuroscience

Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

American journal of human genetics

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.

AJNR. American journal of neuroradiology

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Journal of neurogenetics

Bassuk AG, Sherr EH

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

JAMA psychiatry

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK

Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.

Neurology

Uzgil B, Sherr EH

Abnormal auditory and language pathways in children with 16p11.2 deletion.

NeuroImage. Clinical

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurology. Genetics

Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.

PloS one

Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Genetics in medicine : official journal of the American College of Medical Genetics

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Annals of clinical and translational neurology

Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH

Mapk/Erk activation in an animal model of social deficits; a possible link to autism (P2.226).

Neurology

Alirexa Faridar, Dorothy Jones-Davis, Eric Rider, Jiang Li, Ilan Gobius, Laura Marcom, Linda Richards, Elliott Sherr

Corpus callosum in cognitive and sensory processing: insights into autism.

Future Neurology

Carly Demopoulos, Nina Yu, Lynn K Paul, Elliott H Sherr, Elysa J Marco

Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.

Cerebral cortex (New York, N.Y. : 1991)

Jenkins J, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP

Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile.

Neuropsychology

Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.

Molecular autism

Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH

Epileptic encephalopathies: new genes and new pathways.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Nieh SE, Sherr EH

Opposing brain differences in 16p11.2 deletion and duplication carriers.

The Journal of neuroscience : the official journal of the Society for Neuroscience

Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Biological psychiatry

Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

American journal of medical genetics. Part A

Tunovic S, Barkovich J, Sherr EH, Slavotinek AM

Aberrant white matter microstructure in children with 16p11.2 deletions.

The Journal of neuroscience : the official journal of the Society for Neuroscience

Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

American journal of human genetics

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Brain : a journal of neurology

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ

Autism Spectrum Disorder.

Encyclopedia of the Neurological Sciences

E.J. Marco, E.H. Sherr

Mental Retardation/Intellectual Disability.

Encyclopedia of the Neurological Sciences

S. Esmaeeli-Nieh, E.H. Sherr

Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum.

Brain connectivity

Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

PLoS genetics

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH

De novo mutations in epileptic encephalopathies.

Nature

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Annals of neurology

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S

The epilepsy phenome/genome project.

Clinical trials (London, England)

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

American journal of medical genetics. Part A

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB

Autism traits in individuals with agenesis of the corpus callosum.

Journal of autism and developmental disorders

Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T? tf/J mouse model of autism.

PloS one

Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

American journal of human genetics

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG

Evidence for a shared genetic susceptibility to migraine and epilepsy.

Epilepsia

Winawer MR, Connors R

Chapter 31 Lissencephalies and Axon Guidance Disorders.

Neural Circuit Development and Function in the Brain

E.H. Sherr, L. Fernandez

Test-retest reliability of computational network measurements derived from the structural connectome of the human brain.

Brain connectivity

Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P

The structural connectome of the human brain in agenesis of the corpus callosum.

NeuroImage

Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Journal of medical genetics

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S

Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System.

Neuron

Qinjie Weng, Ying Chen, Haibo Wang, Xiaomei Xu, Bo Yang, Qiaojun He, Weinian Shou, Yan Chen, Yujiro Higashi, Veronique van den Berghe, Eve Seuntjens, Steven G. Kernie, Polina Bukshpun, Elliott H. Sherr, Danny Huylebroeck, Q. Richard Lu

Children with autism show reduced somatosensory response: an MEG study.

Autism research : official journal of the International Society for Autism Research

Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS

The role of corpus callosum development in functional connectivity and cognitive processing.

PloS one

Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH

Detection of identity by descent using next-generation whole genome sequencing data.

BMC bioinformatics

Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E

Epi4K: gene discovery in 4,000 genomes.

Epilepsia

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

Neuron

Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum.

Journal of the International Neuropsychological Society : JINS

Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK

Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system.

Neuron

Weng Q, Chen Y, Wang H, Xu X, Yang B, He Q, Shou W, Chen Y, Higashi Y, van den Berghe V, Seuntjens E, Kernie SG, Bukshpun P, Sherr EH, Huylebroeck D, Lu QR

So what? Does the test lead to improved health outcomes?

Neurology

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E

Chapter 23 Disorders of Forebrain Development.

Swaiman\u0027s Pediatric Neurology

Elliott H. Sherr, Jin S. Hahn

Chapter 43 Global Developmental Delay and Mental Retardation/Intellectual Disability.

Swaiman\u0027s Pediatric Neurology

Elliott H. Sherr, Michael I. Shevell

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

BMC medical genetics

Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Human mutation

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Neurology

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S

GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Neurology

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A

Laterality of brain and ocular lesions in Aicardi syndrome.

Pediatric neurology

Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

American journal of medical genetics. Part A

Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH

Clinical Reasoning: An encephalopathic 3-day-old infant.

Neurology

Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

Neurology

Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG

Agenesis of the corpus callosum.

The Causes of Epilepsy

Dorothy Jones-Davis, Yolanda Lau, Elliott H. Sherr

Identification of genomic loci contributing to agenesis of the corpus callosum.

American journal of medical genetics. Part A

O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB

Diffusion tensor imaging of Aicardi syndrome.

Pediatric neurology

Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH

Microstructural correlations of white matter tracts in the human brain.

NeuroImage

Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P

Expanding CEP290 mutational spectrum in ciliopathies.

American journal of medical genetics. Part A

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D

Introduction.

Seminars in pediatric neurology

Sherr EH

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.

BMJ case reports

Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH

Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study.

AJNR. American journal of neuroradiology

Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, Wakahiro M, Mukherjee P, Sherr EH

Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study.

AJNR. American journal of neuroradiology

Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P

Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.

AJNR. American journal of neuroradiology

Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

American journal of medical genetics. Part A

Glass HC, Shaw GM, Ma C, Sherr EH

The importance of metabolic testing in the evaluation of intellectual disability.

Annals of neurology

Mueller S, Sherr EH

Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A.

Pediatric neurology

Kara S, Sherr EH, Barkovich AJ

Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy.

Nature clinical practice. Neurology

Maccotta L, Sherr EH

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.

Journal of medical genetics

Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.

American journal of medical genetics. Part A

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

American journal of human genetics

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

PLoS genetics

Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

American journal of human genetics

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B